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4. Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke

Author

Ibanez, Laura, Heitsch, Laura, Carrera, Caty, Farias, Fabiana HG, Del Aguila, Jorge L, Dhar, Rajat, Budde, John, Bergmann, Kristy, Bradley, Joseph, Harari, Oscar, Phuah, Chia Ling, Lemmens, Robin, Viana Oliveira Souza, Alessandro A, Moniche, Francisco, Cabezas-Juan, Antonio, Arenillas, Juan Francisco, Krupinksi, Jerzy, Cullell, Natalia, Torres-Aguila, Nuria, Muiño, Elena, Cárcel-Márquez, Jara, Marti-Fabregas, Joan, Delgado-Mederos, Raquel, Marin-Bueno, Rebeca, Hornick, Alejandro, Vives-Bauza, Cristofol, Navarro, Rosa Diaz, Tur, Silvia, Jimenez, Carmen, Obach, Victor, Segura, Tomas, Serrano-Heras, Gemma, Chung, Jong Won, Roquer, Jaume, Soriano-Tarraga, Carol, Giralt-Steinhauer, Eva, Mola-Caminal, Marina, Pera, Joanna, Lapicka-Bodzioch, Katarzyna, Derbisz, Justyna, Davalos, Antoni, Lopez-Cancio, Elena, Muñoz, Lucia, Tatlisumak, Turgut, Molina, Carlos, Ribo, Marc, Bustamante, Alejandro, Sobrino, Tomas, Castillo-Sanchez, Jose, Campos, Francisco, Rodriguez-Castro, Emilio, Arias-Rivas, Susana, Rodríguez-Yáñez, Manuel, Herbosa, Christina, Ford, Andria L, Gutierrez-Romero, Alonso, Uribe-Pacheco, Rodrigo, Arauz, Antonio, Lopes-Cendes, Iscia, Lowenkopf, Theodore, Barboza, Miguel A, Amini, Hajar, Stamova, Boryana, Ander, Bradley P, Sharp, Frank R, Kim, Gyeong Moon, Bang, Oh Young, Jimenez-Conde, Jordi, Slowik, Agnieszka, Stribian, Daniel, Tsai, Ellen A, Burkly, Linda C, Montaner, Joan, Fernandez-Cadenas, Israel, Lee, Jin Moo, and Cruchaga, Carlos

Subjects
Epidemiology, Health Sciences, Neurosciences, Human Genome, Genetics, Stroke, Biotechnology, Aging, Brain Disorders, Cerebrovascular, 2.1 Biological and endogenous factors, Neurological, Bayes Theorem, Brain Ischemia, Genome-Wide Association Study, Humans, Ischemic Stroke, United States, ischaemic stroke, neuroprotection, genetics, NIHSS, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences, Psychology
Abstract

During the first hours after stroke onset, neurological deficits can be highly unstable: some patients rapidly improve, while others deteriorate. This early neurological instability has a major impact on long-term outcome. Here, we aimed to determine the genetic architecture of early neurological instability measured by the difference between the National Institutes of Health Stroke Scale (NIHSS) within 6 h of stroke onset and NIHSS at 24 h. A total of 5876 individuals from seven countries (Spain, Finland, Poland, USA, Costa Rica, Mexico and Korea) were studied using a multi-ancestry meta-analyses. We found that 8.7% of NIHSS at 24 h of variance was explained by common genetic variations, and also that early neurological instability has a different genetic architecture from that of stroke risk. Eight loci (1p21.1, 1q42.2, 2p25.1, 2q31.2, 2q33.3, 5q33.2, 7p21.2 and 13q31.1) were genome-wide significant and explained 1.8% of the variability suggesting that additional variants influence early change in neurological deficits. We used functional genomics and bioinformatic annotation to identify the genes driving the association from each locus. Expression quantitative trait loci mapping and summary data-based Mendelian randomization indicate that ADAM23 (log Bayes factor = 5.41) was driving the association for 2q33.3. Gene-based analyses suggested that GRIA1 (log Bayes factor = 5.19), which is predominantly expressed in the brain, is the gene driving the association for the 5q33.2 locus. These analyses also nominated GNPAT (log Bayes factor = 7.64) ABCB5 (log Bayes factor = 5.97) for the 1p21.1 and 7p21.1 loci. Human brain single-nuclei RNA-sequencing indicates that the gene expression of ADAM23 and GRIA1 is enriched in neurons. ADAM23, a presynaptic protein and GRIA1, a protein subunit of the AMPA receptor, are part of a synaptic protein complex that modulates neuronal excitability. These data provide the first genetic evidence in humans that excitotoxicity may contribute to early neurological instability after acute ischaemic stroke.

Published
2022

5. Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model

Author

Avansini, Simoni H, Puppo, Francesca, Adams, Jason W, Vieira, Andre S, Coan, Ana C, Rogerio, Fabio, Torres, Fabio R, Araújo, Patricia AOR, Martin, Mariana, Montenegro, Maria A, Yasuda, Clarissa L, Tedeschi, Helder, Ghizoni, Enrico, França, Andréa FEC, Alvim, Marina KM, Athié, Maria C, Rocha, Cristiane S, Almeida, Vanessa S, Dias, Elayne V, Delay, Lauriane, Molina, Elsa, Yaksh, Tony L, Cendes, Fernando, Lopes Cendes, Iscia, and Muotri, Alysson R

Subjects
Congenital Structural Anomalies, Pediatric, Neurosciences, Aetiology, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Neurological, Brain, Epilepsy, Humans, Infant, Newborn, Malformations of Cortical Development, Malformations of Cortical Development, Group I, Neurons, focal cortical dysplasia, cortical organoids, cell adhesion, cell proliferation, neuronal network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
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.

Published
2022

9. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Author

Stevelink, Remi, Luykx, Jurjen J, Lin, Bochao D, Leu, Costin, Lal, Dennis, Smith, Alexander W, Schijven, Dick, Carpay, Johannes A, Rademaker, Koen, Baldez, Roiza A Rodrigues, Devinsky, Orrin, Braun, Kees PJ, Jansen, Floor E, Smit, Dirk JA, Koeleman, Bobby PC, Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J, Bast, Thomas, Baum, Larry, Becker, Albert J, Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F, Boysen, Katja E, Bradfield, Jonathan P, Brody, Lawrence C, Buono, Russell J, Campbell, Ellen, Cascino, Gregory D, Catarino, Claudia B, Cavalleri, Gianpiero L, Cherny, Stacey S, Chinthapalli, Krishna, Coffey, Alison J, Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J, de Haan, Gerrit‐Jan, De Jonghe, Peter, de Kovel, Carolien GF, Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J, Doherty, Colin P, Elger, Christian E, Eriksson, Johan G, Ferraro, Thomas N, Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A, Freytag, Saskia, Gaus, Verena, Geller, Eric B, Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B, Gui, Hongsheng, Guo, Youling, Haas, Kevin F, Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R, Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Trenite, Dorothee Kasteleijn‐Nolst, Kirsch, Heidi E, Knowlton, Robert C, Krause, Roland, Krenn, Martin, Kunz, Wolfram S, Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D, Lopes‐Cendes, Iscia, Lowenstein, Daniel H, Malovini, Alberto, Marson, Anthony G, Mayer, Thomas, McCormack, Mark, and Mills, James L

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Brain Disorders, Clinical Research, Human Genome, Neurodegenerative, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Algorithms, Beta Rhythm, Cohort Studies, Databases, Factual, Electroencephalography, Epilepsy, Generalized, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Mendelian Randomization Analysis, Risk Assessment, Theta Rhythm, beta power, EEG, generalized epilepsy, GGE, oscillations, PRS, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveParoxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the genetic correlation between epilepsy and background EEG oscillations.MethodsConfounding factors, including the heterogeneous etiology of epilepsies and medication effects, hamper studies on background brain activity in people with epilepsy. To overcome this limitation, we compared genetic data from a genome-wide association study (GWAS) on epilepsy (n = 12 803 people with epilepsy and 24 218 controls) with that from a GWAS on background EEG (n = 8425 subjects without epilepsy), in which background EEG oscillation power was quantified in four different frequency bands: alpha, beta, delta, and theta. We replicated our findings in an independent epilepsy replication dataset (n = 4851 people with epilepsy and 20 428 controls). To assess the genetic overlap between these phenotypes, we performed genetic correlation analyses using linkage disequilibrium score regression, polygenic risk scores, and Mendelian randomization analyses.ResultsOur analyses show strong genetic correlations of genetic generalized epilepsy (GGE) with background EEG oscillations, primarily in the beta frequency band. Furthermore, we show that subjects with higher beta and theta polygenic risk scores have a significantly higher risk of having generalized epilepsy. Mendelian randomization analyses suggest a causal effect of GGE genetic liability on beta oscillations.SignificanceOur results point to shared biological mechanisms underlying background EEG oscillations and the susceptibility for GGE, opening avenues to investigate the clinical utility of background EEG oscillations in the diagnostic workup of epilepsy.

Published
2021

10. The genetic architecture of the human cerebral cortex

Author

Grasby, Katrina L, Jahanshad, Neda, Painter, Jodie N, Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P, Lind, Penelope A, Pizzagalli, Fabrizio, Ching, Christopher RK, McMahon, Mary Agnes B, Shatokhina, Natalia, Zsembik, Leo CP, Thomopoulos, Sophia I, Zhu, Alyssa H, Strike, Lachlan T, Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio AA, Alnæs, Dag, Amlien, Inge K, Andersson, Micael, Ard, Tyler, Armstrong, Nicola J, Ashley-Koch, Allison, Atkins, Joshua R, Bernard, Manon, Brouwer, Rachel M, Buimer, Elizabeth EL, Bülow, Robin, Bürger, Christian, Cannon, Dara M, Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W, Couvy-Duchesne, Baptiste, Dale, Anders M, Dalvie, Shareefa, de Araujo, Tânia K, de Zubicaray, Greig I, de Zwarte, Sonja MC, Braber, Anouk den, 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, Krämer, 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, and Milaneschi, Yuri

Subjects
Biological Sciences, Genetics, Neurosciences, Mental Health, Brain Disorders, Stem Cell Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Attention Deficit Disorder with Hyperactivity, Brain Mapping, Cerebral Cortex, Cognition, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Organ Size, Parkinson Disease, Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN Consortium, IMAGEN Consortium, SYS Consortium, Parkinson’s Progression Markers Initiative, Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group, General Science & Technology
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.

Published
2020

18. CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort

Author

Gonçalves, João Pedro Nunes, de Andrade, Helen Maia Tavares, Cintra, Vívian Pedigone, Bonadia, Luciana Cardoso, Leoni, Tauana Bernardes, de Albuquerque, Milena, Martins, Melina Pazian, de Borba, Fabrício Castro, Couteiro, Rafael Esteves Duarte, de Oliveira, Daniel Sabino, Claudino, Rinaldo, Gonçalves, Marcos Vinicius Magno, Dourado, Mario Emilio, de Souza, Leonardo Cruz, Teixeira, Antônio Lúcio, de Godoy Rousseff Prado, Laura, Tumas, Vitor, Oliveira, Acary Souza Bulle, Nucci, Anamarli, Lopes-Cendes, Iscia, Marques, Wilson, Jr., and França, Marcondes C., Jr.

Published
2020
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19. Acute hippocampal volume loss and metabolic neuronal dysfunction post pilocarpine induced status epilepticus in a rodent model of temporal lobe epilepsy

Author

Da Silva, Luciana Ramalho Pimentel, primary, Barbosa, Renata, additional, De Matos, Alexandre Hilario Berenguer, additional, De Campos, Brunno, additional, Vieira, Andre Schwambach, additional, Casseb, Raphael Fernandes, additional, Lopes-Cendes, Iscia, additional, and Cendes, Fernando, additional

Published
2023
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22. W8. LOCAL ANCESTRY INFERENCE REVEALS DIFFERENCES IN IMPUTATION PERFORMANCE FOR THE BRAZILIAN POPULATION ACROSS FOUR REFERENCE PANELS

Author

Bruxel, Estela, primary, Magalhães, Pedro, additional, Araújo, Tânia, additional, de Oliveira, Tais, additional, Secolin, Rodrigo, additional, Betting, Luis, additional, Lin, Katia, additional, Walz, Roger, additional, Rodrigues, Maira, additional, Hünemeier, Tabita, additional, Pereira, Lygia, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, and Atkinson, Elizabeth, additional

Published
2023
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29. Identifying cellular markers of focal cortical dysplasia type II with cell-type deconvolution and single-cell signatures

Author

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

Published
2023
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30. Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: Insights into pathophysiology and tissue characterization

Author

Assis-Mendonça, Guilherme Rossi, primary, Athié, Maria Carolina Pedro, additional, Tamanini, João Vitor Gerdulli, additional, Souza, Arethusa de, additional, Zanetti, Gabriel Gerardini, additional, Araújo, Patrícia Aline Oliveira Ribeiro de Aguiar, additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, Alvim, Marina Koutsodontis Machado, additional, Almeida, Vanessa Simão de, additional, de Souza, Welliton, additional, Coras, Roland, additional, Yasuda, Clarissa Lin, additional, Blümcke, Ingmar, additional, Vieira, André Schwambach, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, and Rogerio, Fabio, additional

Published
2023
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32. Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients

Author

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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34. Multimodal mapping of regional brain vulnerability to focal cortical dysplasia

Author

Lee, Hyo M, primary, Hong, Seok-Jun, additional, Gill, Ravnoor, additional, Caldairou, Benoit, additional, Wang, Irene, additional, Zhang, Jian-guo, additional, Deleo, Francesco, additional, Schrader, Dewi, additional, Bartolomei, Fabrice, additional, Guye, Maxime, additional, Cho, Kyoo Ho, additional, Barba, Carmen, additional, Sisodiya, Sanjay, additional, Jackson, Graeme, additional, Hogan, R Edward, additional, Wong-Kisiel, Lily, additional, Cascino, Gregory D, additional, Schulze-Bonhage, Andreas, additional, Lopes-Cendes, Iscia, additional, Cendes, Fernando, additional, Guerrini, Renzo, additional, Bernhardt, Boris, additional, Bernasconi, Neda, additional, and Bernasconi, Andrea, additional

Published
2023
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41. Interferon-beta induces major histocompatibility complex of class I (MHC-I) expression and a proinflammatory phenotype in cultivated human astrocytes

Author

Ignarro, Raffaela Silvestre, primary, Bombeiro, André Luis, additional, Chiarotto, Gabriela Bortolança, additional, Cartarozzi, Luciana Politti, additional, Coser, Lilian de Oliveira, additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, Rogerio, Fabio, additional, and Oliveira, Alexandre Leite Rodrigues de, additional

Published
2022
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44. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

Author

McCormack, Mark, Gui, Hongsheng, Ingason, Andrés, Speed, Doug, Wright, Galen E.B., Zhang, Eunice J., Secolin, Rodrigo, Yasuda, Clarissa, Kwok, Maxwell, Wolking, Stefan, Becker, Felicitas, Rau, Sarah, Avbersek, Andreja, Heggeli, Kristin, Leu, Costin, Depondt, Chantal, Sills, Graeme J., Marson, Anthony G., Auce, Pauls, Brodie, Martin J., Francis, Ben, Johnson, Michael R., Koeleman, Bobby P.C., Striano, Pasquale, Coppola, Antonietta, Zara, Federico, Kunz, Wolfram S., Sander, Josemir W., Lerche, Holger, Klein, Karl Martin, Weckhuysen, Sarah, Krenn, Martin, Gudmundsson, Lárus J., Stefánsson, Kári, Krause, Roland, Shear, Neil, Ross, Colin J.D., Delanty, Norman, Pirmohamed, Munir, Carleton, Bruce C., Cendes, Fernando, Lopes-Cendes, Iscia, Liao, Wei-ping, OʼBrien, Terence J., Sisodiya, Sanjay M., Cherny, Stacey, Kwan, Patrick, Baum, Larry, and Cavalleri, Gianpiero L.

Published
2018
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45. ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Author

Cameron, Jillian M., Ellis, Colin A., Berkovic, Samuel F., Perucca, Piero, Cross, J. Helen, Lerche, Holger, Esterhuizen, Alina I., Lopes‐Cendes, Iscia, Tsai, Meng‐Han, Lowenstein, Daniel H., Tan, Nigel C. K., Helbig, Ingo, Mefford, Heather C., Brunklaus, Andreas, Lesca, Gaetan, Palmer, Elizabeth Emma, McTague, Amy, Fakhfakh, Faiza, Delanty, Norman, Lowenstein, Daniel H., Tan, Nigel C. K., and Esterhuizen, Alina I.

Abstract

Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).

Published
2023
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47. Transcriptome analyses of the cortex and white matter of focal cortical dysplasia type II: insights into disease mechanisms and tissue characterization

Author

Assis-Mendonça, Guilherme Rossi, primary, Pedro Athié, Maria Carolina, additional, Gerdulli Tamanini, João Vitor, additional, de Souza, Arethusa, additional, Zanetti, Gabriel Gerardini, additional, de Aguiar Araújo, Patrícia Aline Oliveira Ribeiro, additional, Ghizoni, Enrico, additional, Tedeschi, Helder, additional, Machado Alvim, Marina Koutsodontis, additional, de Almeida, Vanessa Simão, additional, de Souza, Welliton, additional, Coras, Roland, additional, Yasuda, Clarissa Lin, additional, Blümcke, Ingmar, additional, Vieira, André Schwambach, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, and Rogerio, Fabio, additional

Published
2022
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48. The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

Author

Najm, Imad, primary, Lal, Dennis, additional, Alonso Vanegas, Mario, additional, Cendes, Fernando, additional, Lopes‐Cendes, Iscia, additional, Palmini, Andre, additional, Paglioli, Eliseu, additional, Sarnat, Harvey B., additional, Walsh, Christopher A., additional, Wiebe, Samuel, additional, Aronica, Eleonora, additional, Baulac, Stéphanie, additional, Coras, Roland, additional, Kobow, Katja, additional, Cross, J. Helen, additional, Garbelli, Rita, additional, Holthausen, Hans, additional, Rössler, Karl, additional, Thom, Maria, additional, El‐Osta, Assam, additional, Lee, Jeong Ho, additional, Miyata, Hajime, additional, Guerrini, Renzo, additional, Piao, Yue‐Shan, additional, Zhou, Dong, additional, and Blümcke, Ingmar, additional

Published
2022
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