47 results on '"Alvim, Marina K. M."'
Search Results
2. Brain Connectivity Measures in EEG-Based Biometry for Epilepsy Patients: A Pilot Study
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Carlos, Bruna M., Campos, Brunno M., Alvim, Marina K. M., Castellano, Gabriela, Filipe, Joaquim, Editorial Board Member, Ghosh, Ashish, Editorial Board Member, Prates, Raquel Oliveira, Editorial Board Member, Zhou, Lizhu, Editorial Board Member, Ribeiro, Paulo Rogério de Almeida, editor, Cota, Vinícius Rosa, editor, Barone, Dante Augusto Couto, editor, and de Oliveira, Alexandre César Muniz, editor
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- 2022
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3. A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan
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Chen, Judy, primary, Ngo, Alexander, additional, Rodríguez-Cruces, Raúl, additional, Royer, Jessica, additional, Caligiuri, Maria Eugenia, additional, Gambardella, Antonio, additional, Concha, Luis, additional, Keller, Simon S., additional, Cendes, Fernando, additional, Yasuda, Clarissa L., additional, Alvim, Marina K. M., additional, Bonilha, Leonardo, additional, Gleichgerrcht, Ezequiel, additional, Focke, Niels K., additional, Kreilkamp, Barbara, additional, Domin, Martin, additional, von Podewils, Felix, additional, Langner, Soenke, additional, Rummel, Christian, additional, Wiest, Roland, additional, Martin, Pascal, additional, Kotikalapudi, Raviteja, additional, Bender, Benjamin, additional, O’Brien, Terence J., additional, Sinclair, Benjamin, additional, Vivash, Lucy, additional, Kwan, Patrick, additional, Desmond, Patricia M., additional, Lui, Elaine, additional, Duma, Gian Marco, additional, Bonanni, Paolo, additional, Ballerini, Alice, additional, Vaudano, Anna Elisabetta, additional, Meletti, Stefano, additional, Tondelli, Manuela, additional, Alhusaini, Saud, additional, Doherty, Colin P., additional, Cavalleri, Gianpiero L., additional, Delanty, Norman, additional, Kälviäinen, Reetta, additional, Jackson, Graeme D., additional, Kowalczyk, Magdalena, additional, Mascalchi, Mario, additional, Semmelroch, Mira, additional, Thomas, Rhys H., additional, Soltanian-Zadeh, Hamid, additional, Davoodi-Bojd, Esmaeil, additional, Zhang, Junsong, additional, Lenge, Matteo, additional, Guerrini, Renzo, additional, Bartolini, Emanuele, additional, Hamandi, Khalid, additional, Foley, Sonya, additional, Rüber, Theodor, additional, Bauer, Tobias, additional, Weber, Bernd, additional, Caldairou, Benoit, additional, Depondt, Chantal, additional, Absil, Julie, additional, Carr, Sarah J. A., additional, Abela, Eugenio, additional, Richardson, Mark P., additional, Devinsky, Orrin, additional, Pardoe, Heath, additional, Severino, Mariasavina, additional, Striano, Pasquale, additional, Tortora, Domenico, additional, Kaestner, Erik, additional, Hatton, Sean N., additional, Arienzo, Donatello, additional, Vos, Sjoerd B., additional, Ryten, Mina, additional, Taylor, Peter N., additional, Duncan, John S., additional, Whelan, Christopher D., additional, Galovic, Marian, additional, Winston, Gavin P., additional, Thomopoulos, Sophia I., additional, Thompson, Paul M., additional, Sisodiya, Sanjay M., additional, Labate, Angelo, additional, McDonald, Carrie R., additional, Caciagli, Lorenzo, additional, Bernasconi, Neda, additional, Bernasconi, Andrea, additional, Larivière, Sara, additional, Schrader, Dewi, additional, and Bernhardt, Boris C., additional
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- 2024
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4. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA‐Epilepsy study
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Kerestes, Rebecca, primary, Perry, Andrew, additional, Vivash, Lucy, additional, O'Brien, Terence J., additional, Alvim, Marina K. M., additional, Arienzo, Donatello, additional, Aventurato, Ítalo K., additional, Ballerini, Alice, additional, Baltazar, Gabriel F., additional, Bargalló, Núria, additional, Bender, Benjamin, additional, Brioschi, Ricardo, additional, Bürkle, Eva, additional, Caligiuri, Maria Eugenia, additional, Cendes, Fernando, additional, de Tisi, Jane, additional, Duncan, John S., additional, Engel, Jerome P., additional, Foley, Sonya, additional, Fortunato, Francesco, additional, Gambardella, Antonio, additional, Giacomini, Thea, additional, Guerrini, Renzo, additional, Hall, Gerard, additional, Hamandi, Khalid, additional, Ives‐Deliperi, Victoria, additional, João, Rafael B., additional, Keller, Simon S., additional, Kleiser, Benedict, additional, Labate, Angelo, additional, Lenge, Matteo, additional, Marotta, Cassandra, additional, Martin, Pascal, additional, Mascalchi, Mario, additional, Meletti, Stefano, additional, Owens‐Walton, Conor, additional, Parodi, Costanza B., additional, Pascual‐Diaz, Saül, additional, Powell, David, additional, Rao, Jun, additional, Rebsamen, Michael, additional, Reiter, Johannes, additional, Riva, Antonella, additional, Rüber, Theodor, additional, Rummel, Christian, additional, Scheffler, Freda, additional, Severino, Mariasavina, additional, Silva, Lucas S., additional, Staba, Richard J., additional, Stein, Dan J., additional, Striano, Pasquale, additional, Taylor, Peter N., additional, Thomopoulos, Sophia I., additional, Thompson, Paul M., additional, Tortora, Domenico, additional, Vaudano, Anna Elisabetta, additional, Weber, Bernd, additional, Wiest, Roland, additional, Winston, Gavin P., additional, Yasuda, Clarissa L., additional, Zheng, Hong, additional, McDonald, Carrie R., additional, Sisodiya, Sanjay M., additional, and Harding, Ian H., additional
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- 2024
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5. ATP Synthase Subunit Beta Immunostaining is Reduced in the Sclerotic Hippocampus of Epilepsy Patients
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Mota, Marcelo Vilas Boas, Zaidan, Bruna Cunha, do Canto, Amanda Morato, Ghizoni, Enrico, Tedeschi, Helder, de Souza Queiroz, Luciano, Alvim, Marina K. M., Cendes, Fernando, Lopes-Cendes, Iscia, Schenka, André Almeida, Vieira, André Schwambach, and Rogerio, Fabio
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- 2019
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6. Identifying cellular markers of focal cortical dysplasia type II with cell-type deconvolution and single-cell signatures
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Galvao, Isabella C., primary, Kandratavicius, Ludmyla, additional, Messias, Lauana A., additional, Athie, Maria C. P., additional, Assis-Mendonca, Guilherme R., additional, Alvim, Marina K. M., additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, Yasuda, Clarissa L., additional, Cendes, Fernando, additional, Vieira, Andre Schwambach, additional, Rogerio, Fabio, additional, Lopes-Cendes, Iscia, additional, and Veiga, Diogo F. Troggian, additional
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- 2023
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7. Epileptogenic zone classification with functional connectivity and graph measures
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Carlos, Bruna M., primary, Campos, Brunno M., additional, Alvim, Marina K. M., additional, Patiño, Manuel G., additional, Cendes, Fernando, additional, and Castellano, Gabriela, additional
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- 2023
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8. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
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Whelan, Christopher D, Altmann, Andre, Botía, Juan A, Jahanshad, Neda, Hibar, Derrek P, Absil, Julie, Alhusaini, Saud, Alvim, Marina K M, Auvinen, Pia, Bartolini, Emanuele, Bergo, Felipe P G, Bernardes, Tauana, Blackmon, Karen, Braga, Barbara, Caligiuri, Maria Eugenia, Calvo, Anna, Carr, Sarah J, Chen, Jian, Chen, Shuai, Cherubini, Andrea, David, Philippe, Domin, Martin, Foley, Sonya, França, Wendy, Haaker, Gerrit, Isaev, Dmitry, Keller, Simon S, Kotikalapudi, Raviteja, Kowalczyk, Magdalena A, Kuzniecky, Ruben, Langner, Soenke, Lenge, Matteo, Leyden, Kelly M, Liu, Min, Loi, Richard Q, Martin, Pascal, Mascalchi, Mario, Morita, Marcia E, Pariente, Jose C, Rodríguez-Cruces, Raul, Rummel, Christian, Saavalainen, Taavi, Semmelroch, Mira K, Severino, Mariasavina, Thomas, Rhys H, Tondelli, Manuela, Tortora, Domenico, Vaudano, Anna Elisabetta, Vivash, Lucy, von Podewils, Felix, Wagner, Jan, Weber, Bernd, Yao, Yi, Yasuda, Clarissa L, Zhang, Guohao, Bargalló, Nuria, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris C, Blümcke, Ingmar, Carlson, Chad, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin P, Focke, Niels K, Gambardella, Antonio, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Kälviäinen, Reetta, Kochunov, Peter, Kwan, Patrick, Labate, Angelo, McDonald, Carrie R, Meletti, Stefano, OʼBrien, Terence J, Ourselin, Sebastien, Richardson, Mark P, Striano, Pasquale, Thesen, Thomas, Wiest, Roland, Zhang, Junsong, Vezzani, Annamaria, Ryten, Mina, Thompson, Paul M, and Sisodiya, Sanjay M
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- 2018
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9. Is inpatient ictal video‐electroencephalographic monitoring mandatory in mesial temporal lobe epilepsy with unilateral hippocampal sclerosis? A prospective study
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Alvim, Marina K. M., Morita, Marcia E., Yasuda, Clarissa L., Damasceno, Benito P., Lopes, Tátila M., Coan, Ana Carolina, Ghizoni, Enrico, Tedeschi, Helder, and Cendes, Fernando
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- 2018
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10. Morphological, cellular, and molecular basis of brain infection in COVID-19 patients
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Crunfli, Fernanda, primary, Carregari, Victor C., additional, Veras, Flavio P., additional, Silva, Lucas S., additional, Nogueira, Mateus Henrique, additional, Antunes, André Saraiva Leão Marcelo, additional, Vendramini, Pedro Henrique, additional, Valença, Aline Gazzola Fragnani, additional, Brandão-Teles, Caroline, additional, Zuccoli, Giuliana da Silva, additional, Reis-de-Oliveira, Guilherme, additional, Silva-Costa, Lícia C., additional, Saia-Cereda, Verônica Monteiro, additional, Smith, Bradley J., additional, Codo, Ana Campos, additional, de Souza, Gabriela F, additional, Muraro, Stéfanie P., additional, Parise, Pierina Lorencini, additional, Toledo-Teixeira, Daniel A., additional, Santos de Castro, Ícaro Maia, additional, Melo, Bruno Marcel, additional, Almeida, Glaucia M., additional, Firmino, Egidi Mayara Silva, additional, Paiva, Isadora Marques, additional, Silva, Bruna Manuella Souza, additional, Guimarães, Rafaela Mano, additional, Mendes, Niele D., additional, Ludwig, Raíssa L., additional, Ruiz, Gabriel P., additional, Knittel, Thiago L., additional, Davanzo, Gustavo G., additional, Gerhardt, Jaqueline Aline, additional, Rodrigues, Patrícia Brito, additional, Forato, Julia, additional, Amorim, Mariene Ribeiro, additional, Brunetti, Natália S., additional, Martini, Matheus Cavalheiro, additional, Benatti, Maíra Nilson, additional, Batah, Sabrina S., additional, Siyuan, Li, additional, João, Rafael B., additional, Aventurato, Ítalo K., additional, Rabelo de Brito, Mariana, additional, Mendes, Maria J., additional, da Costa, Beatriz A., additional, Alvim, Marina K. M., additional, da Silva Júnior, José Roberto, additional, Damião, Lívia L., additional, de Sousa, Iêda Maria P., additional, da Rocha, Elessandra D., additional, Gonçalves, Solange M., additional, Lopes da Silva, Luiz H., additional, Bettini, Vanessa, additional, Campos, Brunno M., additional, Ludwig, Guilherme, additional, Tavares, Lucas Alves, additional, Pontelli, Marjorie Cornejo, additional, Viana, Rosa Maria Mendes, additional, Martins, Ronaldo B., additional, Vieira, Andre Schwambach, additional, Alves-Filho, José Carlos, additional, Arruda, Eurico, additional, Podolsky-Gondim, Guilherme Gozzoli, additional, Santos, Marcelo Volpon, additional, Neder, Luciano, additional, Damasio, André, additional, Rehen, Stevens, additional, Vinolo, Marco Aurélio Ramirez, additional, Munhoz, Carolina Demarchi, additional, Louzada-Junior, Paulo, additional, Oliveira, Renê Donizeti, additional, Cunha, Fernando Q., additional, Nakaya, Helder I., additional, Mauad, Thais, additional, Duarte-Neto, Amaro Nunes, additional, Ferraz da Silva, Luiz Fernando, additional, Dolhnikoff, Marisa, additional, Saldiva, Paulo Hilario Nascimento, additional, Farias, Alessandro S., additional, Cendes, Fernando, additional, Moraes-Vieira, Pedro Manoel M., additional, Fabro, Alexandre T., additional, Sebollela, Adriano, additional, Proença-Modena, José L., additional, Yasuda, Clarissa L., additional, Mori, Marcelo A., additional, Cunha, Thiago M., additional, and Martins-de-Souza, Daniel, additional
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- 2022
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11. Benchmarking the proteomic profile of animal models of mesial temporal epilepsy
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Canto, Amanda M., primary, Godoi, Alexandre B., additional, Matos, Alexandre H. B., additional, Geraldis, Jaqueline C., additional, Rogerio, Fabio, additional, Alvim, Marina K. M., additional, Yasuda, Clarissa L., additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, Veiga, Diogo F. T., additional, Henning, Barbara, additional, Souza, Welliton, additional, Rocha, Cristiane S., additional, Vieira, André S., additional, Dias, Elayne V., additional, Carvalho, Benilton S., additional, Gilioli, Rovilson, additional, Arul, Albert B., additional, Robinson, Renã A. S., additional, Cendes, Fernando, additional, and Lopes‐Cendes, Iscia, additional
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- 2022
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12. In response: Brain atrophy in seizure-free temporal lobe epilepsy: Implications for predicting pharmacoresistance
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Alvim, Marina K. M., Coan, Ana C., Yasuda, Clarissa L., Morita, Marcia E., and Cendes, Fernando
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- 2016
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13. Progression of gray matter atrophy in seizure-free patients with temporal lobe epilepsy
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Alvim, Marina K. M., Coan, Ana C., Campos, Brunno M., Yasuda, Clarissa L., Oliveira, Mariana C., Morita, Marcia E., and Cendes, Fernando
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- 2016
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14. Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model
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Avansini, Simoni H, primary, Puppo, Francesca, additional, Adams, Jason W, additional, Vieira, Andre S, additional, Coan, Ana C, additional, Rogerio, Fabio, additional, Torres, Fabio R, additional, Araújo, Patricia A O R, additional, Martin, Mariana, additional, Montenegro, Maria A, additional, Yasuda, Clarissa L, additional, Tedeschi, Helder, additional, Ghizoni, Enrico, additional, França, Andréa F E C, additional, Alvim, Marina K M, additional, Athié, Maria C, additional, Rocha, Cristiane S, additional, Almeida, Vanessa S, additional, Dias, Elayne V, additional, Delay, Lauriane, additional, Molina, Elsa, additional, Yaksh, Tony L, additional, Cendes, Fernando, additional, Lopes Cendes, Iscia, additional, and Muotri, Alysson R, additional
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- 2021
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15. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy
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Park, Bo-yong, primary, Larivière, Sara, additional, Rodríguez-Cruces, Raul, additional, Royer, Jessica, additional, Tavakol, Shahin, additional, Wang, Yezhou, additional, Caciagli, Lorenzo, additional, Caligiuri, Maria Eugenia, additional, Gambardella, Antonio, additional, Concha, Luis, additional, Keller, Simon S, additional, Cendes, Fernando, additional, Alvim, Marina K M, additional, Yasuda, Clarissa, additional, Bonilha, Leonardo, additional, Gleichgerrcht, Ezequiel, additional, Focke, Niels K, additional, Kreilkamp, Barbara A K, additional, Domin, Martin, additional, von Podewils, Felix, additional, Langner, Soenke, additional, Rummel, Christian, additional, Rebsamen, Michael, additional, Wiest, Roland, additional, Martin, Pascal, additional, Kotikalapudi, Raviteja, additional, Bender, Benjamin, additional, O’Brien, Terence J, additional, Law, Meng, additional, Sinclair, Benjamin, additional, Vivash, Lucy, additional, Kwan, Patrick, additional, Desmond, Patricia M, additional, Malpas, Charles B, additional, Lui, Elaine, additional, Alhusaini, Saud, additional, Doherty, Colin P, additional, Cavalleri, Gianpiero L, additional, Delanty, Norman, additional, Kälviäinen, Reetta, additional, Jackson, Graeme D, additional, Kowalczyk, Magdalena, additional, Mascalchi, Mario, additional, Semmelroch, Mira, additional, Thomas, Rhys H, additional, Soltanian-Zadeh, Hamid, additional, Davoodi-Bojd, Esmaeil, additional, Zhang, Junsong, additional, Lenge, Matteo, additional, Guerrini, Renzo, additional, Bartolini, Emanuele, additional, Hamandi, Khalid, additional, Foley, Sonya, additional, Weber, Bernd, additional, Depondt, Chantal, additional, Absil, Julie, additional, Carr, Sarah J A, additional, Abela, Eugenio, additional, Richardson, Mark P, additional, Devinsky, Orrin, additional, Severino, Mariasavina, additional, Striano, Pasquale, additional, Parodi, Costanza, additional, Tortora, Domenico, additional, Hatton, Sean N, additional, Vos, Sjoerd B, additional, Duncan, John S, additional, Galovic, Marian, additional, Whelan, Christopher D, additional, Bargalló, Núria, additional, Pariente, Jose, additional, Conde-Blanco, Estefania, additional, Vaudano, Anna Elisabetta, additional, Tondelli, Manuela, additional, Meletti, Stefano, additional, Kong, Xiang-Zhen, additional, Francks, Clyde, additional, Fisher, Simon E, additional, Caldairou, Benoit, additional, Ryten, Mina, additional, Labate, Angelo, additional, Sisodiya, Sanjay M, additional, Thompson, Paul M, additional, McDonald, Carrie R, additional, Bernasconi, Andrea, additional, Bernasconi, Neda, additional, and Bernhardt, Boris C, additional
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- 2021
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16. Multidimensional Approach Assessing the Role of Interleukin 1 Beta in Mesial Temporal Lobe Epilepsy
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Santos, Renato O., primary, Secolin, Rodrigo, additional, Barbalho, Patrícia G., additional, Silva-Alves, Mariana S., additional, Alvim, Marina K. M., additional, Yasuda, Clarissa L., additional, Rogerio, Fábio, additional, Velasco, Tonicarlo R., additional, Sakamoto, Americo C., additional, Teixeira, Antonio L., additional, Cendes, Fernando, additional, Maurer-Morelli, Claudia V., additional, and Lopes-Cendes, Iscia, additional
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- 2021
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17. Improving the prediction of epilepsy surgery outcomes using basic scalp EEG findings
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Fitzgerald, Zachary, primary, Morita‐Sherman, Marcia, additional, Hogue, Olivia, additional, Joseph, Boney, additional, Alvim, Marina K. M., additional, Yasuda, Clarissa L., additional, Vegh, Deborah, additional, Nair, Dileep, additional, Burgess, Richard, additional, Bingaman, William, additional, Najm, Imad, additional, Kattan, Michael W., additional, Blumcke, Ingmar, additional, Worrell, Gregory, additional, Brinkmann, Benjamin H., additional, Cendes, Fernando, additional, and Jehi, Lara, additional
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- 2021
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18. Inflammatory and neurotrophic factor plasma levels are related to epilepsy independently of etiology
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Alvim, Marina K. M., primary, Morita‐Sherman, Marcia E., additional, Yasuda, Clarissa L., additional, Rocha, Natália P., additional, Vieira, Érica L., additional, Pimentel‐Silva, Luciana R., additional, Henrique Nogueira, Mateus, additional, Barbosa, Renata, additional, Watanabe, Nancy, additional, Coan, Ana Carolina, additional, Lopes‐Cendes, Iscia, additional, Teixeira, Antonio L., additional, and Cendes, Fernando, additional
- Published
- 2021
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19. EEG Signal Connectivity for Characterizing Interictal Activity in Patients With Mesial Temporal Lobe Epilepsy
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Costa, Leonardo R. da, primary, Campos, Brunno M. de, additional, Alvim, Marina K. M., additional, and Castellano, Gabriela, additional
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- 2021
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20. Association Analysis of Candidate Variants in Admixed Brazilian Patients With Genetic Generalized Epilepsies
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Kaibara, Felipe S., primary, de Araujo, Tânia K., additional, Araujo, Patricia A. O. R. A., additional, Alvim, Marina K. M., additional, Yasuda, Clarissa L., additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, and Secolin, Rodrigo, additional
- Published
- 2021
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21. Topographic Divergence of Atypical Cortical Asymmetry and Regional Atrophy Patterns in Temporal Lobe Epilepsy: A Worldwide ENIGMA Study
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Park, Bo-yong, primary, Larivière, Sara, additional, Rodríguez-Cruces, Raul, additional, Royer, Jessica, additional, Tavakol, Shahin, additional, Wang, Yezhou, additional, Caciagli, Lorenzo, additional, Caligiuri, Maria Eugenia, additional, Gambardella, Antonio, additional, Concha, Luis, additional, Keller, Simon S., additional, Cendes, Fernando, additional, Alvim, Marina K. M., additional, Yasuda, Clarissa, additional, Bonilha, Leonardo, additional, Gleichgerrcht, Ezequiel, additional, Focke, Niels K., additional, Kreilkamp, Barbara A. K., additional, Domin, Martin, additional, von Podewils, Felix, additional, Langner, Soenke, additional, Rummel, Christian, additional, Rebsamen, Michael, additional, Wiest, Roland, additional, Martin, Pascal, additional, Kotikalapudi, Raviteja, additional, Bender, Benjamin, additional, O’Brien, Terence J., additional, Law, Meng, additional, Sinclair, Benjamin, additional, Vivash, Lucy, additional, Desmond, Patricia M., additional, Malpas, Charles B., additional, Lui, Elaine, additional, Alhusaini, Saud, additional, Doherty, Colin P., additional, Cavalleri, Gianpiero L., additional, Delanty, Norman, additional, Kälviäinen, Reetta, additional, Jackson, Graeme D., additional, Kowalczyk, Magdalena, additional, Mascalchi, Mario, additional, Semmelroch, Mira, additional, Thomas, Rhys H., additional, Soltanian-Zadeh, Hamid, additional, Davoodi-Bojd, Esmaeil, additional, Zhang, Junsong, additional, Lenge, Matteo, additional, Guerrini, Renzo, additional, Bartolini, Emanuele, additional, Hamandi, Khalid, additional, Foley, Sonya, additional, Weber, Bernd, additional, Depondt, Chantal, additional, Absil, Julie, additional, Carr, Sarah J. A., additional, Abela, Eugenio, additional, Richardson, Mark P., additional, Devinsky, Orrin, additional, Severino, Mariasavina, additional, Striano, Pasquale, additional, Parodi, Costanza, additional, Tortora, Domenico, additional, Hatton, Sean N., additional, Vos, Sjoerd B., additional, Duncan, John S., additional, Galovic, Marian, additional, Whelan, Christopher D., additional, Bargalló, Núria, additional, Pariente, Jose, additional, Conde, Estefania, additional, Vaudano, Anna Elisabetta, additional, Tondelli, Manuela, additional, Meletti, Stefano, additional, Kong, Xiang-Zhen, additional, Francks, Clyde, additional, Fisher, Simon E., additional, Labate, Angelo, additional, Sisodiya, Sanjay M., additional, Thompson, Paul M., additional, McDonald, Carrie R., additional, Bernasconi, Andrea, additional, Bernasconi, Neda, additional, and Bernhardt, Boris C., additional
- Published
- 2021
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22. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults
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Hofer, Edith, Roshchupkin, Gennady V, Bernard, Manon, Grasby, Katrina L, Jahanshad, Neda, Painter, Jodie N, Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P, Lind, Penelope A, Pizzagalli, Fabrizio, Ching, Christopher R K, McMahon, Mary Agnes B, Bis, Joshua C, Shatokhina, Natalia, Zsembik, Leo C P, Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A A, Alnæs, Dag, Amlien, Inge K, Andersson, Micael, Ard, Tyler, Armstrong, Nicola J, Gillespie, Nathan A, Ashley-Koch, Allison, Brouwer, Rachel M, Buimer, Elizabeth E L, Bülow, Robin, Bürger, Christian, Cannon, Dara M, Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W, Luciano, Michelle, Couvy-Duchesne, Baptiste, Dale, Anders M, Dalvie, Shareefa, de Araujo, Tânia K, de Zubicaray, Greig I, de Zwarte, Sonja M C, den Braber, Anouk, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Mishra, Aniket, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O, Foley, Sonya F, Ford, Judith M, Fukunaga, Masaki, Garrett, Melanie E, Ge, Tian, Giddaluru, Sudheer, Scholz, Markus, Goldman, Aaron L, Groenewold, Nynke A, Grotegerd, Dominik, Gurholt, Tiril P, Gutman, Boris A, Hansell, Narelle K, Harris, Mathew A, Harrison, Marc B, Haswell, Courtney C, Hauser, Michael, Teumer, Alexander, Herms, Stefan, Heslenfeld, Dirk J, Ho, New Fei, Hoehn, David, Hoffmann, Per, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Xia, Rui, Jansen, Iris E, Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Karama, Sherif, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Jian, Xueqiu, Knapp, Michael, Knodt, Annchen R, Krämer, Bernd, Lam, Max, Lancaster, Thomas M, Lee, Phil H, Lett, Tristram A, Lewis, Lindsay B, Lopes-Cendes, Iscia, Mosley, Thomas H, Macciardi, Fabio, Marquand, Andre F, Mathias, Samuel R, Melzer, Tracy R, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C V, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Najt, Pablo, Adams, Hieab H H, Saba, Yasaman, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M, Orfanos, Dimitri Papadopoulos, Pearson, John F, Pitcher, Toni L, Pütz, Benno, Ragothaman, Anjanibhargavi, Rashid, Faisal M, Redlich, Ronny, Pirpamer, Lukas, Reinbold, Céline S, Repple, Jonathan, Richard, Geneviève, Riedel, Brandalyn C, Risacher, Shannon L, Rocha, Cristiane S, Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J, Seiler, Stephan, Schlag, Fenja, Schmaal, Lianne, Schofield, Peter R, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sønderby, Ida E, Sprooten, Emma, Becker, James T, Strike, Lachlan T, Tansey, Katherine E, Thalamuthu, Anbupalam, Thomopoulos, Sophia I, Tordesillas-Gutiérrez, Diana, Turner, Jessica A, Uhlmann, Anne, Vallerga, Costanza Ludovica, van der Meer, Dennis, Carmichael, Owen, van Donkelaar, Marjolein M J, van Eijk, Liza, van Erp, Theo G M, van Haren, Neeltje E M, van Rooij, Daan, van Tol, Marie-José, Veldink, Jan H, Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Rotter, Jerome I, Wang, Yunpeng, Wardlaw, Joanna M, Wen, Wei, Westlye, Lars T, Whelan, Christopher D, Witt, Stephanie H, Wittfeld, Katharina, Wolf, Christiane, Wolfers, Thomas, Yasuda, Clarissa L, Psaty, Bruce M, Zaremba, Dario, Zhang, Zuo, Zhu, Alyssa H, Zwiers, Marcel P, Artiges, Eric, Assareh, Amelia A, Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L, Brown, Gregory G, Lopez, Oscar L, Cichon, Sven, Curran, Joanne E, Davies, Gareth E, Degenhardt, Franziska, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P, Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Amin, Najaf, Gowland, Penny A, Green, Robert C, Häusler, Alexander N, Heindel, Walter, Ho, Beng-Choon, Hoffmann, Wolfgang U, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack, Clifford R, van der Lee, Sven J, Jang, MiHyun, Jansen, Andreas, Kolskår, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O, Luykx, Jurjen J, Mathalon, Daniel H, Mather, Karen A, Mattay, Venkata S, Knol, Maria J, Yang, Qiong, Matthews, Sarah, Son, Jaqueline Mayoral Van, McEwen, Sarah C, Melle, Ingrid, Morris, Derek W, Mueller, Bryon A, Nauck, Matthias, Nordvik, Jan E, Nöthen, Markus M, O'Leary, Daniel S, Himali, Jayandra J, Opel, Nils, Martinot, Marie -Laure Paillère, Pike, G Bruce, Preda, Adrian, Quinlan, Erin B, Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M, Torres, Fábio R, Veltman, Dick J, Maillard, Pauline, Voyvodic, James T, Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Alvim, Marina K M, Ames, David, Anderson, Tim J, Andreassen, Ole A, Arias-Vasquez, Alejandro, Bastin, Mark E, Beiser, Alexa S, Baune, Bernhard T, Blangero, John, Boomsma, Dorret I, Brodaty, Henry, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bustillo, Juan R, Cahn, Wiepke, Calhoun, Vince, DeCarli, Charles, Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L, Cendes, Fernando, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C, Dannlowski, Udo, de Geus, Eco J C, Deary, Ian J, Delanty, Norman, Depondt, Chantal, Desrivières, Sylvane, Donohoe, Gary, Espeseth, Thomas, Fernández, Guillén, Fisher, Simon E, Flor, Herta, Forstner, Andreas J, Francks, Clyde, Lewis, Lindsay, Franke, Barbara, Glahn, David C, Gollub, Randy L, Grabe, Hans J, Gruber, Oliver, Håberg, Asta K, Hariri, Ahmad R, Hartman, Catharina A, Hashimoto, Ryota, Heinz, Andreas, Harris, Mat, Hillegers, Manon H J, Hoekstra, Pieter J, Holmes, Avram J, Hong, L Elliot, Hopkins, William D, Hulshoff Pol, Hilleke E, Jernigan, Terry L, Jönsson, Erik G, Kahn, René S, Kennedy, Martin A, Kircher, Tilo T J, Kochunov, Peter, Kwok, John B J, Hellard, Stephanie Le, Martin, Nicholas G, Martinot, Jean -Luc, McDonald, Colm, McMahon, Katie L, Meyer-Lindenberg, Andreas, Morey, Rajendra A, Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A, Paus, Tomáš, Pausova, Zdenka, Penninx, Brenda W J H, Polderman, Tinca J C, Posthuma, Danielle, Rietschel, Marcella, Roffman, Joshua L, Lin, Honghuang, Veronica Witte, A., Rowland, Laura M, Sachdev, Perminder S, Sämann, Philipp G, Schumann, Gunter, Sim, Kang, Sisodiya, Sanjay M, Smoller, Jordan W, Sommer, Iris E, Pourcain, Beate St, Stein, Dan J, Beyer, Frauke, Toga, Arthur W, Trollor, Julian N, Van der Wee, Nic J A, van 't Ent, Dennis, Völzke, Henry, Walter, Henrik, Weber, Bernd, Weinberger, Daniel R, Wright, Margaret J, Zhou, Juan, Loeffler, Markus, Stein, Jason L, Thompson, Paul M, Medland, Sarah E, Kwok, John B, Trollor, Julian, Li, Shuo, Jiang, Jiyang, Vernooij, Meike W, Hofman, Albert, Uitterlinden, André G, Niessen, Wiro J, Völker, Uwe, Zare, Habil, Bruce Pike, G., Maingault, Sophie, Crivello, Fabrice, Tzourio, Christophe, Amouyel, Philippe, Mazoyer, Bernard, Neale, Michael C, Franz, Carol E, Lyons, Michael J, Ahmad, Shahzad, Panizzon, Matthew S, Logue, Mark, consortium, ENIGMA, Kremen, William S, Villringer, Arno, Satizabal, Claudia L, van Duijn, Cornelia M, Grabe, Hans, Longstreth, William T, Fornage, Myriam, Paus, Tomas, Debette, Stephanie, Ikram, M Arfan, Schmidt, Helena, Schmidt, Reinhold, Seshadri, Sudha, University of Graz, Medical University Graz, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Boston University School of Medicine (BUSM), Boston University [Boston] (BU), School of Public Health [Boston], University of Texas Health Science Center, The University of Texas Health Science Center at Houston (UTHealth), The University of Texas at San Antonio (UTSA), Murdoch University, The Hospital for sick children [Toronto] (SickKids), University of Washington [Seattle], Virginia Commonwealth University (VCU), QIMR Berghofer Medical Research Institute, University of Edinburgh, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Leipzig [Leipzig], Universität Greifswald - University of Greifswald, University of Mississippi Medical Center (UMMC), University of California [Davis] (UC Davis), University of California, University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), Pennington Biomedical Research Center, Louisiana State University (LSU), Los Angeles Biomedical Research Institute (LA BioMed), McGill University = Université McGill [Montréal, Canada], Max Planck Institute for Human Cognitive and Brain Sciences [Leipzig] (IMPNSC), Max-Planck-Gesellschaft, University of New South Wales [Sydney] (UNSW), Neuroscience Research Australia (NeuRA), The University of Sydney, University of Queensland [Brisbane], The Royal Melbourne Hospital, University of Melbourne, Harvard T.H. Chan School of Public Health, Delft University of Technology (TU Delft), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), University of Toronto, University of Calgary, Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), CHU Bordeaux [Bordeaux], Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Réseau International des Instituts Pasteur (RIIP), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of California [San Diego] (UC San Diego), University of Oslo (UiO), Oslo University Hospital [Oslo], VA Boston Healthcare System, University of Southern California (USC), Radboud University Medical Center [Nijmegen], Radboud university [Nijmegen], Janssen Research & Development, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Prince of Wales Hospital, University Hospital Leipzig, University of Oxford [Oxford], Holland Bloorview Kids Rehabilitation Hospital [Toronto, ON, Canada], Epidemiology, Medical Informatics, Radiology & Nuclear Medicine, Neurology, Complex Trait Genetics, Biological Psychology, Cognitive Psychology, IBBA, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, APH - Mental Health, APH - Methodology, Clinical Neuropsychology, Clinical Developmental Psychology, Amsterdam Neuroscience - Complex Trait Genetics, Movement Disorder (MD), Clinical Cognitive Neuropsychiatry Research Program (CCNP), General Paediatrics, ARD - Amsterdam Reproduction and Development, Karl-Franzens-Universität Graz, Universität Leipzig, University of California (UC), Radboud University [Nijmegen], University of Oxford, Psychiatry, Anatomy and neurosciences, Pediatric surgery, Human genetics, APH - Digital Health, and Karl-Franzens-Universität [Graz, Autriche]
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0301 basic medicine ,Male ,Genetics of the nervous system ,Aging ,General Physics and Astronomy ,Genome-wide association study ,Disease ,VARIANTS ,genetics [Mental Disorders] ,Genome-wide association studies ,0302 clinical medicine ,Cognition ,PARKINSONS-DISEASE ,SCHIZOPHRENIA ,80 and over ,2.1 Biological and endogenous factors ,Aetiology ,lcsh:Science ,Aged, 80 and over ,education.field_of_study ,Multidisciplinary ,ENIGMA consortium ,Mental Disorders ,Brain ,Neurodegenerative Diseases ,Genomics ,Single Nucleotide ,Middle Aged ,Biobank ,ALZHEIMERS-DISEASE ,Phenotype ,VINTAGE ,Neurology ,Chromosome Structures ,Schizophrenia ,genetics [Aging] ,Neurological ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Female ,ddc:500 ,Biotechnology ,Adult ,Science ,geentics of the nervous system ,1.1 Normal biological development and functioning ,Population ,SURFACE-AREA ,ORGANIZATION ,Biology ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Article ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Underpinning research ,THICKNESS ,medicine ,Genetics ,Humans ,Polymorphism ,education ,HEALTHY ,METAANALYSIS ,Aged ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE] ,Genetic heterogeneity ,neurology ,Human Genome ,Neurosciences ,General Chemistry ,Heritability ,medicine.disease ,Brain Disorders ,INDIVIDUALS ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Evolutionary biology ,genetics [Neurodegenerative Diseases] ,VOLUME ,genome-wide association studies ,lcsh:Q ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging., Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.
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- 2020
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23. The genetic architecture of the human cerebral cortex
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Grasby, Katrina L, Jahanshad, Neda, Shatokhina, Natalia, Mirza-Schreiber, Nazanin, Moreira, Jose C V, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M, Orfanos, Dimitri Papadopoulos, Pearson, John F, Zsembik, Leo C P, Pitcher, Toni L, Pütz, Benno, Quidé, Yann, Ragothaman, Anjanibhargavi, Rashid, Faisal M, Reay, William R, Redlich, Ronny, Reinbold, Céline S, Repple, Jonathan, Richard, Geneviève, Thomopoulos, Sophia I, Riedel, Brandalyn C, Risacher, Shannon L, Rocha, Cristiane S, Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J, Schlag, Fenja, Schmaal, Lianne, Schofield, Peter R, Zhu, Alyssa H, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sønderby, Ida E, Sprooten, Emma, Tansey, Katherine E, Teumer, Alexander, Thalamuthu, Anbupalam, Strike, Lachlan T, Tordesillas-Gutiérrez, Diana, Turner, Jessica A, Uhlmann, Anne, Vallerga, Costanza Ludovica, van der Meer, Dennis, van Donkelaar, Marjolein M J, van Eijk, Liza, van Erp, Theo G M, van Haren, Neeltje E M, van Rooij, Daan, Agartz, Ingrid, van Tol, Marie-José, Veldink, Jan H, Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M, Wen, Wei, Westlye, Lars T, Whelan, Christopher D, Alhusaini, Saud, Witt, Stephanie H, Wittfeld, Katharina, Wolf, Christiane, Wolfers, Thomas, Wu, Jing Qin, Yasuda, Clarissa L, Zaremba, Dario, Zhang, Zuo, Zwiers, Marcel P, Artiges, Eric, Almeida, Marcio A A, Assareh, Amelia A, Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L, Brown, Gregory G, Cichon, Sven, Curran, Joanne E, Davies, Gareth E, Degenhardt, Franziska, Dennis, Michelle F, Alnæs, Dag, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P, Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A, Green, Robert C, Häusler, Alexander N, Heindel, Walter, Amlien, Inge K, Ho, Beng-Choon, Hoffmann, Wolfgang U, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack, Clifford R, Jang, MiHyun, Jansen, Andreas, Kimbrel, Nathan A, Kolskår, Knut, Painter, Jodie N, Andersson, Micael, Koops, Sanne, Krug, Axel, Lim, Kelvin O, Luykx, Jurjen J, Mathalon, Daniel H, Mather, Karen A, Mattay, Venkata S, Matthews, Sarah, Mayoral Van Son, Jaqueline, McEwen, Sarah C, Ard, Tyler, Melle, Ingrid, Morris, Derek W, Mueller, Bryon A, Nauck, Matthias, Nordvik, Jan E, Nöthen, Markus M, O'Leary, Daniel S, Opel, Nils, Martinot, Marie-Laure Paillère, Pike, G Bruce, Armstrong, Nicola J, Preda, Adrian, Quinlan, Erin B, Rasser, Paul E, Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M, Tooney, Paul A, Torres, Fábio R, Veltman, Dick J, Voyvodic, James T, Ashley-Koch, Allison, Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Adams, Hieab H H, Bis, Joshua C, Debette, Stephanie, Decarli, Charles, Fornage, Myriam, Gudnason, Vilmundur, Hofer, Edith, Atkins, Joshua R, Ikram, M Arfan, Launer, Lenore, Longstreth, W. 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Kelly, Makino, Kelly M, Marek, Kenneth, Spicer, Kenneth, Shianna, Kevin, Chen, Kewei, Nam, Ki Won, Martin, Kim, Poki-Walker, Kim, Hoehn, David, Seppi, Klaus, Johnson, Kris, Fargher, Kristin, Lipowski, Kristine, Espay, Kristy, Womack, Kyle, Chahine, Lama, Flashman, Laura A, Daedelow, Laura, Hoffmann, Per, Leary, Laura, Beckett, Laurel, Honig, Lawrence S, Thal, Leon, Shaw, Leslie M, Kuller, Lew, Apostolova, Liana, Teodoro, Liberty, Rees, Linda, Pizzagalli, Fabrizio, Holleran, Laurena, Lewis, Lindsay, Hergesheimer, Lindsey, Silbert, Lisa C, Ravdin, Lisa, Taylor-Reinwald, Lisa, Uribe, Liz, Schneider, Lon S, Daiello, Lori A, Richer, Louis, Poustka, Luise, Hoogman, Martine, Pirpamer, Lukas, Mesulam, M Marcel, Ismail, M Saleem, Ranola, Madelaine, Korecka, Magdalena, Raichle, Marc, Seltzer, Marc, van der Brug, Marcel, Hottenga, Jouke-Jan, Mesulam, Marek-Marsel, Carrillo, Maria, Carroll, Maria, Knol, Maria J, Kataki, Maria, Greig-Custo, Maria T, Paillere, Marie-Laure, Albert, Marilyn, Love, Marissa Natelson, Ikeda, Masashi, Mintun, Mark A, Frasier, Mark, Logue, Mark, Minton, Mark, Loeffler, Markus, Scholz, Markus, Baca, Marne, Farlow, Martin R, Sadowski, Martin, Janowitz, Deborah, Creech, Mary L, Hynes, Mary L, Quiceno, Mary, Oakley, MaryAnn, Harris, Mat, Senjem, Matt, Bernstein, Matthew, Panizzon, Matthew S, Stern, Matthew, Becerra, Mauricio, Jansen, Iris E, Witbracht, Megan, Vernooij, Meike W, Brandabur, Melanie, Keltz, Melanie, Lamar, Melissa, Yang, Mia, Ahlijanian, Michael, Borrie, Michael, Neale, Michael C, Donohue, Michael, Jia, Tianye, Lyons, Michael J, Lin, Michael, Rapp, Michael, Smolka, Michael, Weiner, Michael W, Weiner, Michael, Figurski, Michal, Perron, Michel, Assaly, Michele, Luciano, Michelle, Jockwitz, Christiane, Rainka, Michelle, Dang, Mimi, Sheikh, Mohammed O, Ghanbari, Mohsen, Gaikwad, Mrunalini, Chowdhury, Munir, Trncic, Nadira, Amin, Najaf, Johnson, Nancy, Kanai, Ryota, Kowalksi, Nancy, Monahan, Nancy, Gillespie, Nathan A, Pacini, Nathaniel, Buckholtz, Neil, Kowall, Neil, Graff-Radford, Neill R, Fox, Nick, Pavese, Nicola, Karama, Sherif, Cairns, Nigel J, Schuff, Norbert, Foster, Norm, Relkin, Norman, Oyonumo, Ntekim E, Pomara, Nunzio, James, Olga, Ogunlana, Olu, Ching, Christopher R K, Kasperaviciute, Dalia, Carmichael, Owen, Doraiswamy, P Murali, Casalin, Paola, Barone, Paolo, Fatica, Parianne, Conrod, Patricia, Johnson, Patricia Lynn, Samuels, Patricia, Aisen, Paul, Malloy, Paul, Kaufmann, Tobias, Thompson, Paul, Ogrocki, Paula, Bezivin-Frere, Pauline, Maillard, Pauline, Fontoura, Paulo, Taylor, Peggy, Hogarth, Penelope, Gowland, Penny, Davies, Peter, Kelly, Sinead, Hardy, Peter, Snyder, Peter J, Snyder, Peter, Amouyel, Philippe, Muglia, Pierandrea, Tariot, Pierre, Lu, Po H, Varma, Pradeep, Vemuri, Prashanthi, Kikuchi, Masataka, Doody, Rachelle S, Carter, Raina, Shah, Raj C, Griffith, Randall, Yeh, Randy, Duara, Ranjan, Tarawneh, Rawan, James, Raymond, Turner, Raymond Scott, Klein, Marieke, Hernando, Raymundo, Silverstein, Rebecca, Sperling, Reisa A, Wilson, Renee, Carson, Richard E, Frank, Richard, El Khouli, Riham, Koeppe, Robert A, Santulli, Robert B, Knapp, Michael, Hauser, Robert, Umek, Robert, Radtke, Rodney, Killiany, Ronald, Petersen, Ronald, Rodriguez, Rosemarie, Miranda, Ruben, Knodt, Annchen R, Bruehl, Ruediger, Xia, Rui, Swerdlow, Russell H, Ottmann, Ruth, Millenet, Sabina, Borges-Neto, Salvador, Frank, Samuel, Black, Sandra, Weintraub, Sandra, Obradov, Sanja, Krämer, Bernd, Asthana, Sanjay, Vaishnavi, Sanjeev, Dolen, Sara, Mason, Sara S, Hohmann, Sarah, Kremen, Sarah, Miller, Sarah, Walter, Sarah, Herring, Scott, Neu, Scott, Lam, Max, Aydin, Semiha, Ahmad, Shahzad, Harlan, Sherry, Sirrel, Sherye A, Lasch, Shirley, Hu, Shu-Ching, Li, Shuo, Kittur, Smita, Chowdhury, Sohini, Lancaster, Thomas M, Pawluczyk, Sonia, Maingault, Sophie, Schneider, Stacy, Seiler, Stephan, Guthrie, Stephanie, Kielb, Stephanie, Reeder, Stephanie, Correia, Stephen, Pasternak, Stephen, McMahon, Mary Agnes B, Lee, Phil H, Salloway, Stephen, Johnson, Sterling, Williams, Steve, Chao, Steven, Arnold, Steven E, Paul, Steven, Potkin, Steven, Factor, Stewart, Isaacson, Stuart, Lett, Tristram A, Kim, Sungeun, Ainscough, Susan, Schultz, Susan K, Landau, Susan, Mendick, Susan, Rountree, Susan, Ostrowizki, Suzanne, Veillette, Suzanne, van der Lee, Sven J, Desrivieres, Sylvane, Lewis, Lindsay B, Lee, T-Y, Simuni, Tanya, Foroud, Tatiana, Foroud, Tatiana M, Wong, Terence Z, Villena, Teresa, Comery, Thomas, Obisesan, Thomas O, Lopes-Cendes, Iscia, Banaschewski, Tobias, Sherer, Todd, Montine, Tom, Paus, Tomáš, Robbins, Trevor, Bromberg, Uli, Völker, Uwe, Pavlik, Valory, Arnedo, Vanessa, Kiyasova, Vera, Bates, Vernice, Logovinsky, Veronika, Sossi, Vesna, Shibley, Victoria, Frouin, Vincent, Lee, Virginia, Poewe, Werner, Jagust, William, Brooks, William M, Macciardi, Fabio, Pavlosky, William, Potter, William, Kremen, William S, Longstreth, William T, Niessen, Wiro J, Jian, Xueqiu, Stern, Yaakov, Saba, Yasaman, Cabrera, Yuliana, Grimmer, Yvonne, Marquand, Andre F, Khachaturian, Zaven, Mari, Zoltan, Mathias, Samuel R, Melzer, Tracy R, Milaneschi, Yuri, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Movement Disorder (MD), Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN Consortium, IMAGEN Consortium, SYS Consortium, Parkinson’s Progression Markers Initiative, Stochastics, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Mental Health, Science and Society, Cognitive Psychology, IBBA, APH - Personalized Medicine, Complex Trait Genetics, APH - Methodology, Clinical Neuropsychology, Sociology and Social Gerontology, Amsterdam Neuroscience - Complex Trait Genetics, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Neurology, Psychiatry, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Human genetics, APH - Digital Health, Psychology, Precision Medicine Institute of Psychiatry, Child and Adolescent Psychiatry / Psychology, Radiology & Nuclear Medicine, Clinical Genetics, Epidemiology, Medical Informatics, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Neurodegeneratives Diseases Institute (IMN-UMR CNRS 5293), Centre National de la Recherche Scientifique (CNRS), General Paediatrics, ARD - Amsterdam Reproduction and Development, Direction de Recherche Fondamentale (CEA) (DRF (CEA)), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay
- Subjects
0301 basic medicine ,Netherlands Twin Register (NTR) ,[SDV]Life Sciences [q-bio] ,LOCI ,Genome-wide association study ,Brain mapping ,0302 clinical medicine ,Cognition ,Cortex (anatomy) ,ComputingMilieux_MISCELLANEOUS ,Cerebral Cortex ,0303 health sciences ,Brain Mapping ,Multidisciplinary ,COMMON VARIANTS ,Parkinson Disease ,Organ Size ,Central sulcus ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,Cerebral cortex ,Neuroinformatics ,EXPRESSION ,endocrine system ,central sulcus ,SURFACE-AREA ,Biology ,Article ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Genetic variation ,medicine ,Attention deficit hyperactivity disorder ,Humans ,General ,Gene ,METAANALYSIS ,030304 developmental biology ,Progenitor ,CORTICAL SULCI ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Genetic variants ,Genetic Variation ,Attention Deficit Disorder with Hyperactivity ,Genetic Loci ,Genome-Wide Association Study ,functional annotation ,medicine.disease ,Genetic architecture ,030104 developmental biology ,Evolutionary biology ,OBSERVER-INDEPENDENT CHARACTERIZATION ,Multiple comparisons problem ,ddc:320 ,genome-wide association ,Neuroscience ,030217 neurology & neurosurgery - Abstract
Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group., The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.
- Published
- 2020
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24. The genetic architecture of the human cerebral cortex
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Grasby, Katrina L., Jahanshad, Neda, Painter, Jodie N., Colodro-Conde, Lucia, Bralten, Janita, Hibar, Derrek P., Lind, Penelope A., Pizzagalli, Fabrizio, Ching, Christopher R. K., McMahon, Mary Agnes B., Shatokhina, Natalia, Zsembik, Leo C. P., Thomopoulos, Sophia I., Zhu, Alyssa H., Strike, Lachlan T., Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A. A., Alnaes, Dag, Amlien, Inge K., Andersson, Micael, Ard, Tyler, Armstrong, Nicola J., Ashley-Koch, Allison, Atkins, Joshua R., Bernard, Manon, Brouwer, Rachel M., Buimer, Elizabeth E. L., Bulow, Robin, Burger, Christian, Cannon, Dara M., Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W., Couvy-Duchesne, Baptiste, Dale, Anders M., Dalvie, Shareefa, de Araujo, Tania K., de Zubicaray, Greig I., de Zwarte, Sonja M. C., den Braber, Anouk, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O., Foley, Sonya F., Ford, Judith M., Fukunaga, Masaki, Garrett, Melanie E., Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Gurholt, Tiril P., Gutman, Boris A., Hansell, Narelle K., Harris, Mathew A., Harrison, Marc B., Haswell, Courtney C., Hauser, Michael, Herms, Stefan, Heslenfeld, Dirk J., Ho, New Fei, Hoehn, David, Hoffmann, Per, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E., Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Karama, Sherif, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R., Kramer, Bernd, Lam, Max, Lancaster, Thomas M., Lee, Phil H., Lett, Tristram A., Lewis, Lindsay B., Lopes-Cendes, Iscia, Luciano, Michelle, Macciardi, Fabio, Marquand, Andre F., Mathias, Samuel R., Melzer, Tracy R., Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C. V., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Loohuis, Loes M. Olde, Orfanos, Dimitri Papadopoulos, Pearson, John F., Pitcher, Toni L., Putz, Benno, Quide, Yann, Ragothaman, Anjanibhargavi, Rashid, Faisal M., Reay, William R., Redlich, Ronny, Reinbold, Celine S., Repple, Jonathan, Richard, Genevieve, Riedel, Brandalyn C., Risacher, Shannon L., Rocha, Cristiane S., Mota, Nina R., Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J., Schlag, Fenja, Schmaal, Lianne, Schofield, Peter R., Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sonderby, Ida E., Sprooten, Emma, Tansey, Katherine E., Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutierrez, Diana, Turner, Jessica A., Uhlmann, Anne, Vallerga, Costanza L., van der Meer, Dennis, van Donkelaar, Marjolein M. J., van Eijk, Liza, van Erp, Theo G. M., van Haren, Neeltje E. M., van Rooij, Daan, van Tol, Marie-Jose, Veldink, Jan H., Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M., Wen, Wei, Westlye, Lars T., Whelan, Christopher D., Witt, Stephanie H., Wittfeld, Katharina, Wolf, Christiane, Wolfers, Thomas, Wu, Jing Qin, Yasuda, Clarissa L., Zaremba, Dario, Zhang, Zuo, Zwiers, Marcel P., Artiges, Eric, Assareh, Amelia A., Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L., Brown, Gregory G., Cichon, Sven, Curran, Joanne E., Davies, Gareth E., Degenhardt, Franziska, Dennis, Michelle F., Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P., Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A., Green, Robert C., Hausler, Alexander N., Heindel, Walter, Ho, Beng-Choon, Hoffmann, Wolfgang U., Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack, Clifford R., Jr., Jang, MiHyun, Jansen, Andreas, Kimbrel, Nathan A., Kolskar, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O., Luykx, Jurjen J., Mathalon, Daniel H., Mather, Karen A., Mattay, Venkata S., Matthews, Sarah, Van Son, Jaqueline Mayoral, McEwen, Sarah C., Melle, Ingrid, Morris, Derek W., Mueller, Bryon A., Nauck, Matthias, Nordvik, Jan E., Noethen, Markus M., O'Leary, Daniel S., Opel, Nils, Martinot, Marie-Laure Paillere, Pike, G. Bruce, Preda, Adrian, Quinlan, Erin B., Rasser, Paul E., Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M., Tooney, Paul A., Torres, Fabio R., Veltman, Dick J., Voyvodic, James T., Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Adams, Hieab H. H., Bis, Joshua C., Debette, Stephanie, Decarli, Charles, Fornage, Myriam, Gudnason, Vilmundur, Hofer, Edith, Ikram, M. Arfan, Launer, Lenore, Longstreth, W. T., Lopez, Oscar L., Mazoyer, Bernard, Mosley, Thomas H., Roshchupkin, Gennady V., Satizabal, Claudia L., Schmidt, Reinhold, Seshadri, Sudha, Yang, Qiong, Alvim, Marina K. M., Ames, David, Anderson, Tim J., Andreassen, Ole A., Arias-Vasquez, Alejandro, Bastin, Mark E., Baune, Bernhard T., Beckham, Jean C., Blangero, John, Boomsma, Dorret I., Brodaty, Henry, Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bustillo, Juan R., Cahn, Wiepke, Cairns, Murray J., Calhoun, Vince, Carr, Vaughan J., Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L., Cendes, Fernando, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C., Dannlowski, Udo, de Geus, Eco J. C., Deary, Ian J., Delanty, Norman, Depondt, Chantal, Desrivieres, Sylvane, Donohoe, Gary, Espeseth, Thomas, Fernandez, Guillen, Fisher, Simon E., Flor, Herta, Forstner, Andreas J., Francks, Clyde, Franke, Barbara, Glahn, David C., Gollub, Randy L., Grabe, Hans J., Gruber, Oliver, Haberg, Asta K., Hariri, Ahmad R., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Henskens, Frans A., Hillegers, Manon H. J., Hoekstra, Pieter J., Holmes, Avram J., Hong, L. Elliot, Hopkins, William D., Pol, Hilleke E. Hulshoff, Jernigan, Terry L., Jonsson, Erik G., Kahn, Rene S., Kennedy, Martin A., Kircher, Tilo T. J., Kochunov, Peter, Kwok, John B. J., Le Hellard, Stephanie, Loughland, Carmel M., Martin, Nicholas G., Martinot, Jean-Luc, McDonald, Colm, McMahon, Katie L., Meyer-Lindenberg, Andreas, Michie, Patricia T., Morey, Rajendra A., Mowry, Bryan, Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A., Pantelis, Christos, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Polderman, Tinca J. C., Posthuma, Danielle, Rietschel, Marcella, Roffman, Joshua L., Rowland, Laura M., Sachdev, Perminder S., Samann, Philipp G., Schall, Ulrich, Schumann, Gunter, Scott, Rodney J., Sim, Kang, Sisodiya, Sanjay M., Smoller, Jordan W., Sommer, Iris E., St Pourcain, Beate, Stein, Dan J., Toga, Arthur W., Trollor, Julian N., Van der Wee, Nic J. A., van't Ent, Dennis, Volzke, Henry, Walter, Henrik, Weber, Bernd, Weinberger, Daniel R., Wright, Margaret J., Zhou, Juan, Stein, Jason L., Thompson, Paul M., Medland, Sarah E., Grasby, Katrina L., Jahanshad, Neda, Painter, Jodie N., Colodro-Conde, Lucia, Bralten, Janita, Hibar, Derrek P., Lind, Penelope A., Pizzagalli, Fabrizio, Ching, Christopher R. K., McMahon, Mary Agnes B., Shatokhina, Natalia, Zsembik, Leo C. P., Thomopoulos, Sophia I., Zhu, Alyssa H., Strike, Lachlan T., Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A. A., Alnaes, Dag, Amlien, Inge K., Andersson, Micael, Ard, Tyler, Armstrong, Nicola J., Ashley-Koch, Allison, Atkins, Joshua R., Bernard, Manon, Brouwer, Rachel M., Buimer, Elizabeth E. L., Bulow, Robin, Burger, Christian, Cannon, Dara M., Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W., Couvy-Duchesne, Baptiste, Dale, Anders M., Dalvie, Shareefa, de Araujo, Tania K., de Zubicaray, Greig I., de Zwarte, Sonja M. C., den Braber, Anouk, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O., Foley, Sonya F., Ford, Judith M., Fukunaga, Masaki, Garrett, Melanie E., Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Gurholt, Tiril P., Gutman, Boris A., Hansell, Narelle K., Harris, Mathew A., Harrison, Marc B., Haswell, Courtney C., Hauser, Michael, Herms, Stefan, Heslenfeld, Dirk J., Ho, New Fei, Hoehn, David, Hoffmann, Per, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E., Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Karama, Sherif, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R., Kramer, Bernd, Lam, Max, Lancaster, Thomas M., Lee, Phil H., Lett, Tristram A., Lewis, Lindsay B., Lopes-Cendes, Iscia, Luciano, Michelle, Macciardi, Fabio, Marquand, Andre F., Mathias, Samuel R., Melzer, Tracy R., Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C. V., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Loohuis, Loes M. Olde, Orfanos, Dimitri Papadopoulos, Pearson, John F., Pitcher, Toni L., Putz, Benno, Quide, Yann, Ragothaman, Anjanibhargavi, Rashid, Faisal M., Reay, William R., Redlich, Ronny, Reinbold, Celine S., Repple, Jonathan, Richard, Genevieve, Riedel, Brandalyn C., Risacher, Shannon L., Rocha, Cristiane S., Mota, Nina R., Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J., Schlag, Fenja, Schmaal, Lianne, Schofield, Peter R., Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sonderby, Ida E., Sprooten, Emma, Tansey, Katherine E., Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutierrez, Diana, Turner, Jessica A., Uhlmann, Anne, Vallerga, Costanza L., van der Meer, Dennis, van Donkelaar, Marjolein M. J., van Eijk, Liza, van Erp, Theo G. M., van Haren, Neeltje E. M., van Rooij, Daan, van Tol, Marie-Jose, Veldink, Jan H., Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M., Wen, Wei, Westlye, Lars T., Whelan, Christopher D., Witt, Stephanie H., Wittfeld, Katharina, Wolf, Christiane, Wolfers, Thomas, Wu, Jing Qin, Yasuda, Clarissa L., Zaremba, Dario, Zhang, Zuo, Zwiers, Marcel P., Artiges, Eric, Assareh, Amelia A., Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L., Brown, Gregory G., Cichon, Sven, Curran, Joanne E., Davies, Gareth E., Degenhardt, Franziska, Dennis, Michelle F., Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P., Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A., Green, Robert C., Hausler, Alexander N., Heindel, Walter, Ho, Beng-Choon, Hoffmann, Wolfgang U., Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack, Clifford R., Jr., Jang, MiHyun, Jansen, Andreas, Kimbrel, Nathan A., Kolskar, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O., Luykx, Jurjen J., Mathalon, Daniel H., Mather, Karen A., Mattay, Venkata S., Matthews, Sarah, Van Son, Jaqueline Mayoral, McEwen, Sarah C., Melle, Ingrid, Morris, Derek W., Mueller, Bryon A., Nauck, Matthias, Nordvik, Jan E., Noethen, Markus M., O'Leary, Daniel S., Opel, Nils, Martinot, Marie-Laure Paillere, Pike, G. Bruce, Preda, Adrian, Quinlan, Erin B., Rasser, Paul E., Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M., Tooney, Paul A., Torres, Fabio R., Veltman, Dick J., Voyvodic, James T., Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Adams, Hieab H. H., Bis, Joshua C., Debette, Stephanie, Decarli, Charles, Fornage, Myriam, Gudnason, Vilmundur, Hofer, Edith, Ikram, M. Arfan, Launer, Lenore, Longstreth, W. T., Lopez, Oscar L., Mazoyer, Bernard, Mosley, Thomas H., Roshchupkin, Gennady V., Satizabal, Claudia L., Schmidt, Reinhold, Seshadri, Sudha, Yang, Qiong, Alvim, Marina K. M., Ames, David, Anderson, Tim J., Andreassen, Ole A., Arias-Vasquez, Alejandro, Bastin, Mark E., Baune, Bernhard T., Beckham, Jean C., Blangero, John, Boomsma, Dorret I., Brodaty, Henry, Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bustillo, Juan R., Cahn, Wiepke, Cairns, Murray J., Calhoun, Vince, Carr, Vaughan J., Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L., Cendes, Fernando, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C., Dannlowski, Udo, de Geus, Eco J. C., Deary, Ian J., Delanty, Norman, Depondt, Chantal, Desrivieres, Sylvane, Donohoe, Gary, Espeseth, Thomas, Fernandez, Guillen, Fisher, Simon E., Flor, Herta, Forstner, Andreas J., Francks, Clyde, Franke, Barbara, Glahn, David C., Gollub, Randy L., Grabe, Hans J., Gruber, Oliver, Haberg, Asta K., Hariri, Ahmad R., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Henskens, Frans A., Hillegers, Manon H. J., Hoekstra, Pieter J., Holmes, Avram J., Hong, L. Elliot, Hopkins, William D., Pol, Hilleke E. Hulshoff, Jernigan, Terry L., Jonsson, Erik G., Kahn, Rene S., Kennedy, Martin A., Kircher, Tilo T. J., Kochunov, Peter, Kwok, John B. J., Le Hellard, Stephanie, Loughland, Carmel M., Martin, Nicholas G., Martinot, Jean-Luc, McDonald, Colm, McMahon, Katie L., Meyer-Lindenberg, Andreas, Michie, Patricia T., Morey, Rajendra A., Mowry, Bryan, Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A., Pantelis, Christos, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Polderman, Tinca J. C., Posthuma, Danielle, Rietschel, Marcella, Roffman, Joshua L., Rowland, Laura M., Sachdev, Perminder S., Samann, Philipp G., Schall, Ulrich, Schumann, Gunter, Scott, Rodney J., Sim, Kang, Sisodiya, Sanjay M., Smoller, Jordan W., Sommer, Iris E., St Pourcain, Beate, Stein, Dan J., Toga, Arthur W., Trollor, Julian N., Van der Wee, Nic J. A., van't Ent, Dennis, Volzke, Henry, Walter, Henrik, Weber, Bernd, Weinberger, Daniel R., Wright, Margaret J., Zhou, Juan, Stein, Jason L., Thompson, Paul M., and Medland, Sarah E.
- Abstract
The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.
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- 2020
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25. Incorporation of quantitative MRI in a model to predict temporal lobe epilepsy surgery outcome
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Morita-Sherman, Marcia, primary, Li, Manshi, additional, Joseph, Boney, additional, Yasuda, Clarissa, additional, Vegh, Deborah, additional, De Campos, Brunno Machado, additional, Alvim, Marina K M, additional, Louis, Shreya, additional, Bingaman, William, additional, Najm, Imad, additional, Jones, Stephen, additional, Wang, Xiaofeng, additional, Blümcke, Ingmar, additional, Brinkmann, Benjamin H, additional, Worrell, Gregory, additional, Cendes, Fernando, additional, and Jehi, Lara, additional
- Published
- 2021
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26. Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model.
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Avansini, Simoni H, Puppo, Francesca, Adams, Jason W, Vieira, Andre S, Coan, Ana C, Rogerio, Fabio, Torres, Fabio R, Araújo, Patricia A O R, Martin, Mariana, Montenegro, Maria A, Yasuda, Clarissa L, Tedeschi, Helder, Ghizoni, Enrico, França, Andréa F E C, Alvim, Marina K M, Athié, Maria C, Rocha, Cristiane S, Almeida, Vanessa S, Dias, Elayne V, and Delay, Lauriane
- Subjects
BRAIN ,FOCAL cortical dysplasia ,NEURONS ,EPILEPSY ,RESEARCH funding - Abstract
Focal cortical dysplasia is a highly epileptogenic cortical malformation with few treatment options. Here, we generated human cortical organoids from patients with focal cortical dysplasia type II. Using this human model, we mimicked some focal cortical dysplasia hallmarks, such as impaired cell proliferation, the presence of dysmorphic neurons and balloon cells, and neuronal network hyperexcitability. Furthermore, we observed alterations in the adherens junctions zonula occludens-1 and partitioning defective 3, reduced polarization of the actin cytoskeleton, and fewer synaptic puncta. Focal cortical dysplasia cortical organoids showed downregulation of the small GTPase RHOA, a finding that was confirmed in brain tissue resected from these patients. Functionally, both spontaneous and optogenetically-evoked electrical activity revealed hyperexcitability and enhanced network connectivity in focal cortical dysplasia organoids. Taken together, our findings suggest a ventricular zone instability in tissue cohesion of neuroepithelial cells, leading to a maturational arrest of progenitors or newborn neurons, which may predispose to cellular and functional immaturity and compromise the formation of neural networks in focal cortical dysplasia. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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27. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
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Park, Bo-yong, Larivière, Sara, Rodríguez-Cruces, Raul, Royer, Jessica, Tavakol, Shahin, Wang, Yezhou, Caciagli, Lorenzo, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Alvim, Marina K M, Yasuda, Clarissa, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Kreilkamp, Barbara A K, Domin, Martin, and Podewils, Felix von
- Subjects
TEMPORAL lobe epilepsy ,HIPPOCAMPUS (Brain) ,BRAIN mapping ,MAGNETIC resonance imaging ,ATROPHY ,RESEARCH funding - Abstract
Temporal lobe epilepsy, a common drug-resistant epilepsy in adults, is primarily a limbic network disorder associated with predominant unilateral hippocampal pathology. Structural MRI has provided an in vivo window into whole-brain grey matter structural alterations in temporal lobe epilepsy relative to controls, by either mapping (i) atypical inter-hemispheric asymmetry; or (ii) regional atrophy. However, similarities and differences of both atypical asymmetry and regional atrophy measures have not been systematically investigated. Here, we addressed this gap using the multisite ENIGMA-Epilepsy dataset comprising MRI brain morphological measures in 732 temporal lobe epilepsy patients and 1418 healthy controls. We compared spatial distributions of grey matter asymmetry and atrophy in temporal lobe epilepsy, contextualized their topographies relative to spatial gradients in cortical microstructure and functional connectivity calculated using 207 healthy controls obtained from Human Connectome Project and an independent dataset containing 23 temporal lobe epilepsy patients and 53 healthy controls and examined clinical associations using machine learning. We identified a marked divergence in the spatial distribution of atypical inter-hemispheric asymmetry and regional atrophy mapping. The former revealed a temporo-limbic disease signature while the latter showed diffuse and bilateral patterns. Our findings were robust across individual sites and patients. Cortical atrophy was significantly correlated with disease duration and age at seizure onset, while degrees of asymmetry did not show a significant relationship to these clinical variables. Our findings highlight that the mapping of atypical inter-hemispheric asymmetry and regional atrophy tap into two complementary aspects of temporal lobe epilepsy-related pathology, with the former revealing primary substrates in ipsilateral limbic circuits and the latter capturing bilateral disease effects. These findings refine our notion of the neuropathology of temporal lobe epilepsy and may inform future discovery and validation of complementary MRI biomarkers in temporal lobe epilepsy. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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28. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study
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Hatton, Sean N, primary, Huynh, Khoa H, additional, Bonilha, Leonardo, additional, Abela, Eugenio, additional, Alhusaini, Saud, additional, Altmann, Andre, additional, Alvim, Marina K M, additional, Balachandra, Akshara R, additional, Bartolini, Emanuele, additional, Bender, Benjamin, additional, Bernasconi, Neda, additional, Bernasconi, Andrea, additional, Bernhardt, Boris, additional, Bargallo, Núria, additional, Caldairou, Benoit, additional, Caligiuri, Maria E, additional, Carr, Sarah J A, additional, Cavalleri, Gianpiero L, additional, Cendes, Fernando, additional, Concha, Luis, additional, Davoodi-bojd, Esmaeil, additional, Desmond, Patricia M, additional, Devinsky, Orrin, additional, Doherty, Colin P, additional, Domin, Martin, additional, Duncan, John S, additional, Focke, Niels K, additional, Foley, Sonya F, additional, Gambardella, Antonio, additional, Gleichgerrcht, Ezequiel, additional, Guerrini, Renzo, additional, Hamandi, Khalid, additional, Ishikawa, Akari, additional, Keller, Simon S, additional, Kochunov, Peter V, additional, Kotikalapudi, Raviteja, additional, Kreilkamp, Barbara A K, additional, Kwan, Patrick, additional, Labate, Angelo, additional, Langner, Soenke, additional, Lenge, Matteo, additional, Liu, Min, additional, Lui, Elaine, additional, Martin, Pascal, additional, Mascalchi, Mario, additional, Moreira, José C V, additional, Morita-Sherman, Marcia E, additional, O’Brien, Terence J, additional, Pardoe, Heath R, additional, Pariente, José C, additional, Ribeiro, Letícia F, additional, Richardson, Mark P, additional, Rocha, Cristiane S, additional, Rodríguez-Cruces, Raúl, additional, Rosenow, Felix, additional, Severino, Mariasavina, additional, Sinclair, Benjamin, additional, Soltanian-Zadeh, Hamid, additional, Striano, Pasquale, additional, Taylor, Peter N, additional, Thomas, Rhys H, additional, Tortora, Domenico, additional, Velakoulis, Dennis, additional, Vezzani, Annamaria, additional, Vivash, Lucy, additional, von Podewils, Felix, additional, Vos, Sjoerd B, additional, Weber, Bernd, additional, Winston, Gavin P, additional, Yasuda, Clarissa L, additional, Zhu, Alyssa H, additional, Thompson, Paul M, additional, Whelan, Christopher D, additional, Jahanshad, Neda, additional, Sisodiya, Sanjay M, additional, and McDonald, Carrie R, additional
- Published
- 2020
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29. Interactions between in vivo neuronal‐glial markers, side of hippocampal sclerosis, and pharmacoresponse in temporal lobe epilepsy
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Pimentel‐Silva, Luciana R., primary, Casseb, Raphael F., additional, Cordeiro, Mônica M., additional, Campos, Bruno A. G., additional, Alvim, Marina K. M., additional, Rogerio, Fábio, additional, Yasuda, Clarissa L., additional, and Cendes, Fernando, additional
- Published
- 2020
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30. A systems‐level analysis highlights microglial activation as a modifying factor in common epilepsies.
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Altmann, Andre, Ryten, Mina, Di Nunzio, Martina, Ravizza, Teresa, Tolomeo, Daniele, Reynolds, Regina H., Somani, Alyma, Bacigaluppi, Marco, Iori, Valentina, Micotti, Edoardo, Di Sapia, Rossella, Cerovic, Milica, Palma, Eleonora, Ruffolo, Gabriele, Botía, Juan A., Absil, Julie, Alhusaini, Saud, Alvim, Marina K. M., Auvinen, Pia, and Bargallo, Nuria
- Subjects
MICROGLIA ,CEREBRAL cortical thinning ,EPILEPSY ,PREVENTIVE medicine ,TEMPORAL lobe ,MEMORY testing - Abstract
Aims: The causes of distinct patterns of reduced cortical thickness in the common human epilepsies, detectable on neuroimaging and with important clinical consequences, are unknown. We investigated the underlying mechanisms of cortical thinning using a systems‐level analysis. Methods: Imaging‐based cortical structural maps from a large‐scale epilepsy neuroimaging study were overlaid with highly spatially resolved human brain gene expression data from the Allen Human Brain Atlas. Cell‐type deconvolution, differential expression analysis and cell‐type enrichment analyses were used to identify differences in cell‐type distribution. These differences were followed up in post‐mortem brain tissue from humans with epilepsy using Iba1 immunolabelling. Furthermore, to investigate a causal effect in cortical thinning, cell‐type‐specific depletion was used in a murine model of acquired epilepsy. Results: We identified elevated fractions of microglia and endothelial cells in regions of reduced cortical thickness. Differentially expressed genes showed enrichment for microglial markers and, in particular, activated microglial states. Analysis of post‐mortem brain tissue from humans with epilepsy confirmed excess activated microglia. In the murine model, transient depletion of activated microglia during the early phase of the disease development prevented cortical thinning and neuronal cell loss in the temporal cortex. Although the development of chronic seizures was unaffected, the epileptic mice with early depletion of activated microglia did not develop deficits in a non‐spatial memory test seen in epileptic mice not depleted of microglia. Conclusions: These convergent data strongly implicate activated microglia in cortical thinning, representing a new dimension for concern and disease modification in the epilepsies, potentially distinct from seizure control. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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- View/download PDF
31. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA Epilepsy study
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Hatton, Sean N., Huynh, Khoa H., Bonilha, Leonardo, Abela, Eugenio Cecilio, Alhusaini, Saud, Altmann, André, Alvim, Marina K. M., Balachandra, Akshara R., Bartolini, Emanuele, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris, Bargallo, Núria, Caldairou, Benoit, Caligiuri, Maria Eugenia, Carr, Sarah J. A., Cavalleri, Gianpiero L., Cendes, Fernando, Concha, Luis, Davoodi-Bojd, Esmaeil, Desmond, Patricia M., Devinsky, Orrin, Doherty, Colin P., Domin, Martin, Duncan, John S., Focke, Niels K., Foley, Sonya F., Gambardella, Antonio, Gleichgerrcht, Ezequiel, Guerrini, Renzo, Hamandi, Khalid, Ishikawa, Akari, Keller, Simon S., Kochunov, Peter V., Kotikalapudi, Raviteja, Kreilkamp, Barbara A. K., Kwan, Patrick, Labate, Angelo, Langner, Sönke, Lenge, Matteo, Liu, Min, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Moreira, José Carlos Vasques, Morita-Sherman, Marcia Elisabete, O’Brien, Terence J., Pardoe, Heath R., Pariente Zorrilla, José Carlos, Ribeiro, Letı́cia F., Richardson, Mark Philip, Rocha, Cristiane S., Rodrı́guez-Cruces, Raúl, Rosenow, Felix, Severino, Mariasavina, Sinclair, Benjamin, Soltanian-Zadeh, Hamid, Striano, Pasquale, Taylor, Peter N., Thomas, Rhys H., Tortora, Domenico, Velakoulis, Dennis, Vezzani, Annamaria, Vivash, Lucy, Podewils, Felix von, Vos, Sjoerd B., Weber, Bernd, Winston, Gavin P., Yasuda, Clarissa L., Thompson, Paul M., Jahanshad, Neda, Sisodiya, Sanjay M., McDonald, Carrie R., Hatton, Sean N., Huynh, Khoa H., Bonilha, Leonardo, Abela, Eugenio Cecilio, Alhusaini, Saud, Altmann, André, Alvim, Marina K. M., Balachandra, Akshara R., Bartolini, Emanuele, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris, Bargallo, Núria, Caldairou, Benoit, Caligiuri, Maria Eugenia, Carr, Sarah J. A., Cavalleri, Gianpiero L., Cendes, Fernando, Concha, Luis, Davoodi-Bojd, Esmaeil, Desmond, Patricia M., Devinsky, Orrin, Doherty, Colin P., Domin, Martin, Duncan, John S., Focke, Niels K., Foley, Sonya F., Gambardella, Antonio, Gleichgerrcht, Ezequiel, Guerrini, Renzo, Hamandi, Khalid, Ishikawa, Akari, Keller, Simon S., Kochunov, Peter V., Kotikalapudi, Raviteja, Kreilkamp, Barbara A. K., Kwan, Patrick, Labate, Angelo, Langner, Sönke, Lenge, Matteo, Liu, Min, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Moreira, José Carlos Vasques, Morita-Sherman, Marcia Elisabete, O’Brien, Terence J., Pardoe, Heath R., Pariente Zorrilla, José Carlos, Ribeiro, Letı́cia F., Richardson, Mark Philip, Rocha, Cristiane S., Rodrı́guez-Cruces, Raúl, Rosenow, Felix, Severino, Mariasavina, Sinclair, Benjamin, Soltanian-Zadeh, Hamid, Striano, Pasquale, Taylor, Peter N., Thomas, Rhys H., Tortora, Domenico, Velakoulis, Dennis, Vezzani, Annamaria, Vivash, Lucy, Podewils, Felix von, Vos, Sjoerd B., Weber, Bernd, Winston, Gavin P., Yasuda, Clarissa L., Thompson, Paul M., Jahanshad, Neda, Sisodiya, Sanjay M., and McDonald, Carrie R.
- Abstract
The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter microstructural differences across and within syndromes in a multicentre sample of adult epilepsy patients. Diffusion-weighted MRI data were analyzed from 1,069 non-epileptic controls and 1,249 patients: temporal lobe epilepsy with hippocampal sclerosis (N=599), temporal lobe epilepsy with normal MRI (N=275), genetic generalized epilepsy (N=182) and nonlesional extratemporal epilepsy (N=193). A harmonized protocol using tract-based spatial statistics was used to derive skeletonized maps of fractional anisotropy and mean diffusivity for each participant, and fiber tracts were segmented using a diffusion MRI atlas. Data were harmonized to correct for scanner-specific variations in diffusion measures using a batch-effect correction tool (ComBat). Analyses of covariance, adjusting for age and sex, examined differences between each epilepsy syndrome and controls for each white matter tract (Bonferroni corrected at p<0.001). Across “all epilepsies” lower fractional anisotropy was observed in most fiber tracts with small to medium effect sizes, especially in the corpus callosum, cingulum and external capsule. Less robust effects were seen with mean diffusivity. Syndrome-specific fractional anisotropy and mean diffusivity differences were most pronounced in patients with hippocampal sclerosis in the ipsilateral parahippocampal cingulum and external capsule, with smaller effects across most other tracts. Those with temporal lobe epilepsy and normal MRI showed a similar pattern of greater ipsilateral than contralateral abnormalities, but less marked than those in patients with hip
- Published
- 2019
32. The impact of different seizure control in brain atrophy in temporal lobe epilepsy
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Montanher, Lucas Lodi, primary, Yasuda, Clarissa Lin, primary, Ribeiro, Letícia F., primary, Moreira, José C. V., primary, Artoni, Guilherme, primary, Alvim, Marina K. M., primary, and Cendes, Fernando, primary
- Published
- 2019
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- View/download PDF
33. Comparison of cortical atrophy among patients with right, left, bilateral and without hippocampal atrophy temporal lobe epilepsy through voxel-based morphometry
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Artoni, Guilherme, primary, Cendes, Fernando, primary, Moreira, José C. V., primary, Alvim, Marina K. M., primary, Silva, Lucas S., primary, and Yasuda, Clarissa L., primary
- Published
- 2019
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34. ATP Synthase Subunit Beta Immunostaining is Reduced in the Sclerotic Hippocampus of Epilepsy Patients
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Mota, Marcelo Vilas Boas, primary, Zaidan, Bruna Cunha, additional, do Canto, Amanda Morato, additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, de Souza Queiroz, Luciano, additional, Alvim, Marina K. M., additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, Schenka, André Almeida, additional, Vieira, André Schwambach, additional, and Rogerio, Fabio, additional
- Published
- 2018
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35. Is inpatient ictal video-electroencephalographic monitoring mandatory in mesial temporal lobe epilepsy with unilateral hippocampal sclerosis? A prospective study
- Author
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Alvim, Marina K. M., primary, Morita, Marcia E., additional, Yasuda, Clarissa L., additional, Damasceno, Benito P., additional, Lopes, Tátila M., additional, Coan, Ana Carolina, additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, and Cendes, Fernando, additional
- Published
- 2017
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36. MicroRNA hsa-miR-134 is a circulating biomarker for mesial temporal lobe epilepsy
- Author
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Avansini, Simoni H., primary, de Sousa Lima, Beatriz Pereira, additional, Secolin, Rodrigo, additional, Santos, Marilza L., additional, Coan, Ana Carolina, additional, Vieira, André S., additional, Torres, Fábio R., additional, Carvalho, Benilton S., additional, Alvim, Marina K. M., additional, Morita, Márcia E., additional, Yasuda, Clarissa L., additional, Pimentel-Silva, Luciana R., additional, Dogini, Danyella B., additional, Rogerio, Fabio, additional, Cendes, Fernando, additional, and Lopes-Cendes, Iscia, additional
- Published
- 2017
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37. A Prediction Algorithm for Drug Response in Patients with Mesial Temporal Lobe Epilepsy Based on Clinical and Genetic Information
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Silva-Alves, Mariana S., primary, Secolin, Rodrigo, additional, Carvalho, Benilton S., additional, Yasuda, Clarissa L., additional, Bilevicius, Elizabeth, additional, Alvim, Marina K. M., additional, Santos, Renato O., additional, Maurer-Morelli, Claudia V., additional, Cendes, Fernando, additional, and Lopes-Cendes, Iscia, additional
- Published
- 2017
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38. Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients.
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Alhusaini, Saud, Kowalczyk, Magdalena A., Yasuda, Clarissa L., Semmelroch, Mira K, Katsurayama, Marilise, Zabin, Matheus, Zanão, Tamires, Nogueira, Mateus H, Alvim, Marina K M, Ferraz, Victória R, Tsai, Meng-Han, Fitzsimons, Mary, Lopes-Cendes, Iscia, Doherty, Colin P, Cavalleri, Gianpiero L, Cendes, Fernando, Jackson, Graeme D, and Delanty, Norman
- Published
- 2019
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39. A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.
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Chen J, Ngo A, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Alvim MKM, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp B, Domin M, von Podewils F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Sinclair B, Vivash L, Kwan P, Desmond PM, Lui E, Duma GM, Bonanni P, Ballerini A, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Rüber T, Bauer T, Weber B, Caldairou B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Pardoe H, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Arienzo D, Vos SB, Ryten M, Taylor PN, Duncan JS, Whelan CD, Galovic M, Winston GP, Thomopoulos SI, Thompson PM, Sisodiya SM, Labate A, McDonald CR, Caciagli L, Bernasconi N, Bernasconi A, Larivière S, Schrader D, and Bernhardt BC
- Abstract
Objectives: Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of grey and white matter structures. Evidence supports a progressive condition although the temporal evolution of TLE is poorly defined. This ENIGMA-Epilepsy study utilized multimodal magnetic resonance imaging (MRI) data to investigate structural alterations in TLE patients across the adult lifespan. We charted both grey and white matter changes and explored the covariance of age-related alterations in both compartments., Methods: We studied 769 TLE patients and 885 healthy controls across an age range of 17-73 years, from multiple international sites. To assess potentially non-linear lifespan changes in TLE, we harmonized data and combined median split assessments with cross-sectional sliding window analyses of grey and white matter age-related changes. Covariance analyses examined the coupling of grey and white matter lifespan curves., Results: In TLE, age was associated with a robust grey matter thickness/volume decline across a broad cortico-subcortical territory, extending beyond the mesiotemporal disease epicentre. White matter changes were also widespread across multiple tracts with peak effects in temporo-limbic fibers. While changes spanned the adult time window, changes accelerated in cortical thickness, subcortical volume, and fractional anisotropy (all decreased), and mean diffusivity (increased) after age 55 years. Covariance analyses revealed strong limbic associations between white matter tracts and subcortical structures with cortical regions., Conclusions: This study highlights the profound impact of TLE on lifespan changes in grey and white matter structures, with an acceleration of aging-related processes in later decades of life. Our findings motivate future longitudinal studies across the lifespan and emphasize the importance of prompt diagnosis as well as intervention in patients.
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- 2024
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40. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
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Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, and Harding IH
- Abstract
Objective: The intricate neuroanatomical structure of the cerebellum is of longstanding interest in epilepsy, but has been poorly characterized within the current cortico-centric models of this disease. We quantified cross-sectional regional cerebellar lobule volumes using structural MRI in 1,602 adults with epilepsy and 1,022 healthy controls across twenty-two sites from the global ENIGMA-Epilepsy working group., Methods: A state-of-the-art deep learning-based approach was employed that parcellates the cerebellum into 28 neuroanatomical subregions. Linear mixed models compared total and regional cerebellar volume in i) all epilepsies; ii) temporal lobe epilepsy with hippocampal sclerosis (TLE-HS); iii) non-lesional temporal lobe epilepsy (TLE-NL); iv) genetic generalised epilepsy; and (v) extra-temporal focal epilepsy (ETLE). Relationships were examined for cerebellar volume versus age at seizure onset, duration of epilepsy, phenytoin treatment, and cerebral cortical thickness., Results: Across all epilepsies, reduced total cerebellar volume was observed ( d =0.42). Maximum volume loss was observed in the corpus medullare ( d
max =0.49) and posterior lobe grey matter regions, including bilateral lobules VIIB ( dmax = 0.47), Crus I/II ( dmax = 0.39), VIIIA ( dmax =0.45) and VIIIB ( dmax =0.40). Earlier age at seizure onset ( ηρ2 max =0.05) and longer epilepsy duration ( ηρ2 max =0.06) correlated with reduced volume in these regions. Findings were most pronounced in TLE-HS and ETLE with distinct neuroanatomical profiles observed in the posterior lobe. Phenytoin treatment was associated with reduced posterior lobe volume. Cerebellum volume correlated with cerebral cortical thinning more strongly in the epilepsy cohort than in controls., Significance: We provide robust evidence of deep cerebellar and posterior lobe subregional grey matter volume loss in patients with chronic epilepsy. Volume loss was maximal for posterior subregions implicated in non-motor functions, relative to motor regions of both the anterior and posterior lobe. Associations between cerebral and cerebellar changes, and variability of neuroanatomical profiles across epilepsy syndromes argue for more precise incorporation of cerebellum subregions into neurobiological models of epilepsy., Competing Interests: L.Vivash. reports research funding from Biogen Australia, Life Molecular Imaging and Eisai. T.J. O’Brien has received consulting fees from Eisai, UCB, Supernus, Biogen, ES Therapeutics, Epidarex, LivaNova, Kinoxis Therapeutics. He participates on the Data Safety Monitoring Board for ES Therapeutics, Kinoxis Therapeutics. He has served as President (past) for Epilepsy Society of Australia, and is the current chair for Australian Epilepsy Clinical Trials Network (AECTN) and the American Epilepsy Society (Translational Research Committee). B. Bender is the cofounder of AIRAmed GmbH, a company that offers brain segmentation. P. Martin. has received honorary as an advisory board member from Biogen unrelated to the submitted work. P. Striano received speaker fees and advisory boards for Biomarin, Zogenyx, GW Pharmaceuticals; research funding by ENECTA BV, GW Pharmaceuticals, Kolfarma srl., Eisai. P.M. Thompson received a research grant from Biogen, Inc., and was a paid consultant for Kairos Venture Capital, Inc., USA, for projects unrelated to this work. C.L. Yasuda has received personal payments from Torrent, Zodiac and UCB. S.M Sisodiya has received research grants from UCB Pharma and Jazz Pharmaceuticals, speakers fees from UCB, Eisai and Zogenix; honoraria or other fees from Eisai, Jazz Pharma, Stoke Therapeutics, UCB and Zogenix. (payments to institution) The remaining authors have no conflicts of interest.- Published
- 2023
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41. Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model.
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Avansini SH, Puppo F, Adams JW, Vieira AS, Coan AC, Rogerio F, Torres FR, Araújo PAOR, Martin M, Montenegro MA, Yasuda CL, Tedeschi H, Ghizoni E, França AFEC, Alvim MKM, Athié MC, Rocha CS, Almeida VS, Dias EV, Delay L, Molina E, Yaksh TL, Cendes F, Lopes Cendes I, and Muotri AR
- Subjects
- Brain, Humans, Infant, Newborn, Neurons, Epilepsy, Malformations of Cortical Development, Malformations of Cortical Development, Group I
- Abstract
Focal cortical dysplasia is a highly epileptogenic cortical malformation with few treatment options. Here, we generated human cortical organoids from patients with focal cortical dysplasia type II. Using this human model, we mimicked some focal cortical dysplasia hallmarks, such as impaired cell proliferation, the presence of dysmorphic neurons and balloon cells, and neuronal network hyperexcitability. Furthermore, we observed alterations in the adherens junctions zonula occludens-1 and partitioning defective 3, reduced polarization of the actin cytoskeleton, and fewer synaptic puncta. Focal cortical dysplasia cortical organoids showed downregulation of the small GTPase RHOA, a finding that was confirmed in brain tissue resected from these patients. Functionally, both spontaneous and optogenetically-evoked electrical activity revealed hyperexcitability and enhanced network connectivity in focal cortical dysplasia organoids. Taken together, our findings suggest a ventricular zone instability in tissue cohesion of neuroepithelial cells, leading to a maturational arrest of progenitors or newborn neurons, which may predispose to cellular and functional immaturity and compromise the formation of neural networks in focal cortical dysplasia., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.)
- Published
- 2022
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42. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
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Park BY, Larivière S, Rodríguez-Cruces R, Royer J, Tavakol S, Wang Y, Caciagli L, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Alvim MKM, Yasuda C, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp BAK, Domin M, von Podewils F, Langner S, Rummel C, Rebsamen M, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Law M, Sinclair B, Vivash L, Kwan P, Desmond PM, Malpas CB, Lui E, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Weber B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Severino M, Striano P, Parodi C, Tortora D, Hatton SN, Vos SB, Duncan JS, Galovic M, Whelan CD, Bargalló N, Pariente J, Conde-Blanco E, Vaudano AE, Tondelli M, Meletti S, Kong XZ, Francks C, Fisher SE, Caldairou B, Ryten M, Labate A, Sisodiya SM, Thompson PM, McDonald CR, Bernasconi A, Bernasconi N, and Bernhardt BC
- Subjects
- Adult, Atrophy pathology, Hippocampus pathology, Humans, Magnetic Resonance Imaging, Connectome, Epilepsy, Temporal Lobe pathology
- Abstract
Temporal lobe epilepsy, a common drug-resistant epilepsy in adults, is primarily a limbic network disorder associated with predominant unilateral hippocampal pathology. Structural MRI has provided an in vivo window into whole-brain grey matter structural alterations in temporal lobe epilepsy relative to controls, by either mapping (i) atypical inter-hemispheric asymmetry; or (ii) regional atrophy. However, similarities and differences of both atypical asymmetry and regional atrophy measures have not been systematically investigated. Here, we addressed this gap using the multisite ENIGMA-Epilepsy dataset comprising MRI brain morphological measures in 732 temporal lobe epilepsy patients and 1418 healthy controls. We compared spatial distributions of grey matter asymmetry and atrophy in temporal lobe epilepsy, contextualized their topographies relative to spatial gradients in cortical microstructure and functional connectivity calculated using 207 healthy controls obtained from Human Connectome Project and an independent dataset containing 23 temporal lobe epilepsy patients and 53 healthy controls and examined clinical associations using machine learning. We identified a marked divergence in the spatial distribution of atypical inter-hemispheric asymmetry and regional atrophy mapping. The former revealed a temporo-limbic disease signature while the latter showed diffuse and bilateral patterns. Our findings were robust across individual sites and patients. Cortical atrophy was significantly correlated with disease duration and age at seizure onset, while degrees of asymmetry did not show a significant relationship to these clinical variables. Our findings highlight that the mapping of atypical inter-hemispheric asymmetry and regional atrophy tap into two complementary aspects of temporal lobe epilepsy-related pathology, with the former revealing primary substrates in ipsilateral limbic circuits and the latter capturing bilateral disease effects. These findings refine our notion of the neuropathology of temporal lobe epilepsy and may inform future discovery and validation of complementary MRI biomarkers in temporal lobe epilepsy., (© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.)
- Published
- 2022
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43. Longitudinal analysis of interictal electroencephalograms in patients with temporal lobe epilepsy with hippocampal sclerosis.
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Brito MR, Prado TS, Alvim MKM, Santos LSR, Morita-Sherman M, Yasuda CL, and Cendes F
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- Electroencephalography, Hippocampus diagnostic imaging, Hippocampus pathology, Humans, Magnetic Resonance Imaging, Sclerosis pathology, Epilepsy pathology, Epilepsy, Temporal Lobe diagnostic imaging, Epilepsy, Temporal Lobe pathology
- Abstract
Background: While studies have shown the progression of atrophy in temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS), little is known about the long-term dynamics of interictal epileptiform discharges (IEDs)., Objectives: To investigate long-term IEDs distribution in routine EEGs., Methods: We evaluated 314 patients with TLE and MRI signs of HS (TLE-HS). Six had bilateral, 163 had left, and 145 had right HS. We analyzed 3655 routine EEGs (average 11.6 EEGs/patient). The EEGs were classified into four groups: (i) ipsilateral-IEDs (n = 1485), EEGs with only IEDs ipsilateral to the HS; (ii) bilateral-IEDs (n = 390); (iii) contralateral-IEDs (n = 186); and (iv) normal-EEGs (n = 1594). The duration of epilepsy at the time of the EEG (average 27.9 years) was divided into four groups: (a) <8 years (n = 140), (b) 9-17 years (n = 505), (c) 18-29 years (n = 1165), and (d) >30 years (n = 1845). We performed ANOVA with Tukey's pairwise comparisons and linear regression analysis between the duration of epilepsy and the EEG groups., Results: The ANOVA showed a difference in the distribution of IEDs over time (p < 0.0001). While there were no significant changes in the relative numbers of bilateral and contralateral-IEDs combined, there was a significant increase in ipsilateral-IEDs (p < 0.0001) and a decrease in normal-EEGs (p < 0.0001) over time. The linear regression analysis confirmed that the proportion of ipsilateral-IEDs (p < 0.0001), and to a lesser extent, bilateral-IEDs (p = 0.0002), increased over time, while contralateral-IEDs were unchanged (p = 0.923)., Conclusions: Contrary to our expectations, contralateral-IEDs remained stable over time, whereas normal-EEGs decreased and ipsilateral-IEDs increased. Contralateral-IEDs may reflect early abnormalities and not epilepsy progression., (Copyright © 2021 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2021
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44. EEG Signal Connectivity for Characterizing Interictal Activity in Patients With Mesial Temporal Lobe Epilepsy.
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da Costa LR, de Campos BM, Alvim MKM, and Castellano G
- Abstract
Over the last decade, several methods for analysis of epileptiform signals in electroencephalography (EEG) have been proposed. These methods mainly use EEG signal features in either the time or the frequency domain to separate regular, interictal, and ictal brain activity. The aim of this work was to evaluate the feasibility of using functional connectivity (FC) based feature extraction methods for the analysis of epileptiform discharges in EEG signals. These signals were obtained from EEG-fMRI sessions of 10 patients with mesial temporal lobe epilepsy (MTLE) with unilateral hippocampal atrophy. The connectivity functions investigated were motif synchronization, imaginary coherence, and magnitude squared coherence in the alpha, beta, and gamma bands of the EEG. EEG signals were sectioned into 1-s epochs and classified according to (using neurologist markers): activity far from interictal epileptiform discharges (IED), activity immediately before an IED and, finally, mid- IED activity. Connectivity matrices for each epoch for each FC function were built, and graph theory was used to obtain the following metrics: strength, cluster coefficient, betweenness centrality, eigenvector centrality (both local and global), and global efficiency. The statistical distributions of these metrics were compared among the three classes, using ANOVA, for each FC function. We found significant differences in all global ( p < 0.001) and local ( p < 0.00002) graph metrics of the far class compared with before and mid for motif synchronization on the beta band; local betweenness centrality also pointed to a degree of lateralization on the frontotemporal structures. This analysis demonstrates the potential of FC measures, computed using motif synchronization, for the characterization of epileptiform activity of MTLE patients. This methodology may be helpful in the analysis of EEG-fMRI data applied to epileptic foci localization. Nonetheless, the methods must be tested with a larger sample and with other epileptic phenotypes., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Costa, Campos, Alvim and Castellano.)
- Published
- 2021
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45. Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study.
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Gleichgerrcht E, Munsell BC, Alhusaini S, Alvim MKM, Bargalló N, Bender B, Bernasconi A, Bernasconi N, Bernhardt B, Blackmon K, Caligiuri ME, Cendes F, Concha L, Desmond PM, Devinsky O, Doherty CP, Domin M, Duncan JS, Focke NK, Gambardella A, Gong B, Guerrini R, Hatton SN, Kälviäinen R, Keller SS, Kochunov P, Kotikalapudi R, Kreilkamp BAK, Labate A, Langner S, Larivière S, Lenge M, Lui E, Martin P, Mascalchi M, Meletti S, O'Brien TJ, Pardoe HR, Pariente JC, Xian Rao J, Richardson MP, Rodríguez-Cruces R, Rüber T, Sinclair B, Soltanian-Zadeh H, Stein DJ, Striano P, Taylor PN, Thomas RH, Elisabetta Vaudano A, Vivash L, von Podewills F, Vos SB, Weber B, Yao Y, Lin Yasuda C, Zhang J, Thompson PM, Sisodiya SM, McDonald CR, and Bonilha L
- Subjects
- Artificial Intelligence, Brain diagnostic imaging, Brain pathology, Hippocampus diagnostic imaging, Hippocampus pathology, Humans, Magnetic Resonance Imaging, Sclerosis pathology, Support Vector Machine, Epilepsy, Temporal Lobe diagnostic imaging, Epilepsy, Temporal Lobe pathology
- Abstract
Artificial intelligence has recently gained popularity across different medical fields to aid in the detection of diseases based on pathology samples or medical imaging findings. Brain magnetic resonance imaging (MRI) is a key assessment tool for patients with temporal lobe epilepsy (TLE). The role of machine learning and artificial intelligence to increase detection of brain abnormalities in TLE remains inconclusive. We used support vector machine (SV) and deep learning (DL) models based on region of interest (ROI-based) structural (n = 336) and diffusion (n = 863) brain MRI data from patients with TLE with ("lesional") and without ("non-lesional") radiographic features suggestive of underlying hippocampal sclerosis from the multinational (multi-center) ENIGMA-Epilepsy consortium. Our data showed that models to identify TLE performed better or similar (68-75%) compared to models to lateralize the side of TLE (56-73%, except structural-based) based on diffusion data with the opposite pattern seen for structural data (67-75% to diagnose vs. 83% to lateralize). In other aspects, structural and diffusion-based models showed similar classification accuracies. Our classification models for patients with hippocampal sclerosis were more accurate (68-76%) than models that stratified non-lesional patients (53-62%). Overall, SV and DL models performed similarly with several instances in which SV mildly outperformed DL. We discuss the relative performance of these models with ROI-level data and the implications for future applications of machine learning and artificial intelligence in epilepsy care., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
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46. Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
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Gonsales MC, Ribeiro PAO, Betting LE, Alvim MKM, Guerreiro CM, Yasuda CL, Gitaí DLG, Cendes F, and Lopes-Cendes I
- Subjects
- Calcium-Binding Proteins genetics, Humans, Pedigree, Phenotype, Epilepsy, Generalized genetics, Myoclonic Epilepsy, Juvenile genetics
- Abstract
The most common form of genetic generalized epilepsy (GGE) is juvenile myoclonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it remains debatable whether testing for EFHC1 mutations should be included in the diagnostic epilepsy gene panels. To investigate the clinical utility of EFHC1 testing, we studied 125 individuals: 100 with JME and 25 with other GGEs. We amplified and sequenced all EFHC1 coding exons. Then, we predicted the pathogenicity or benign impact of the variants using the analyses proposed by the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP). Mutation screening revealed 11 missense variants in 44 probands with JME (44%) and one of the seven individuals with generalized tonic-clonic seizures on awakening (14%). Six of the 11 variants (54%) were classified as 'benign,' and the remaining variants were considered variants of uncertain significance (VUS). There is currently a limitation to test for genes that predispose an individual to complex, nonmonogenic phenotypes. Thus, we show suggestive evidence that EFHC1 testing lacks a scientific foundation based on the disputed nature of the gene-disease relationship and should be currently limited to research purposes., Competing Interests: Declaration of competing interest All authors declare no conflicts of interest related to the work reported in this manuscript., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
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47. Sleep onset uncovers thalamic abnormalities in patients with idiopathic generalised epilepsy.
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Bagshaw AP, Hale JR, Campos BM, Rollings DT, Wilson RS, Alvim MKM, Coan AC, and Cendes F
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- Adolescent, Adult, Analysis of Variance, Cerebral Cortex diagnostic imaging, Electroencephalography, Epilepsy, Generalized diagnostic imaging, Female, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged, Nerve Net diagnostic imaging, Neural Pathways diagnostic imaging, Oxygen blood, Thalamus diagnostic imaging, Young Adult, Brain Mapping, Epilepsy, Generalized pathology, Epilepsy, Generalized physiopathology, Sleep physiology, Thalamus pathology
- Abstract
The thalamus is crucial for sleep regulation and the pathophysiology of idiopathic generalised epilepsy (IGE), and may serve as the underlying basis for the links between the two. We investigated this using EEG-fMRI and a specific emphasis on the role and functional connectivity (FC) of the thalamus. We defined three types of thalamic FC: thalamocortical, inter-hemispheric thalamic, and intra-hemispheric thalamic. Patients and controls differed in all three measures, and during wakefulness and sleep, indicating disorder-dependent and state-dependent modification of thalamic FC. Inter-hemispheric thalamic FC differed between patients and controls in somatosensory regions during wakefulness, and occipital regions during sleep. Intra-hemispheric thalamic FC was significantly higher in patients than controls following sleep onset, and disorder-dependent alterations to FC were seen in several thalamic regions always involving somatomotor and occipital regions. As interactions between thalamic sub-regions are indirect and mediated by the inhibitory thalamic reticular nucleus (TRN), the results suggest abnormal TRN function in patients with IGE, with a regional distribution which could suggest a link with the thalamocortical networks involved in the generation of alpha rhythms. Intra-thalamic FC could be a more widely applicable marker beyond patients with IGE.
- Published
- 2017
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