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831 results on '"Labate, Angelo"'

152. Mutational Analysis of EFHC1 Gene in Italian Families with Juvenile Myoclonic Epilepsy

Author

Annesi, Ferdinanda, Gambardella, Antonio, Michelucci, Roberto, Bianchi, Amedeo, Marini, Carla, Canevini, Maria Paola, Capovilla, Giuseppe, Elia, Maurizio, Buti, Daniela, Chifari, Rosanna, Striano, Pasquale, Rocca, Francesca E., Castellotti, Barbara, Cali, Francesco, Labate, Angelo, LePiane, Emilio, Besana, Dante, Sofia, Vito, Tabiadon, Giulietta, Tortorella, Gaetano, Vigliano, Piernanda, Vignoli, Aglaia, Beccaria, Francesca, Annesi, Grazia, Striano, Salvatore, Aguglia, Umberto, Guerrini, Renzo, and Quattrone, Aldo

Published
2007

156. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M. C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., Neale, Benjamin M., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M. C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., and Neale, Benjamin M.

Abstract

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology.

Published
2019

157. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

Author

Difrancesco, J, Castellotti, B, Milanesi, R, Ragona, F, Freri, E, Canafoglia, L, Franceschetti, S, Ferrarese, C, Magri, S, Taroni, F, Costa, C, Labate, A, Gambardella, A, Solazzi, R, Binda, A, Rivolta, I, Di Gennaro, G, Casciato, S, D'Incerti, L, Barbuti, A, Difrancesco, D, Granata, T, Gellera, C, DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D'Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, Gellera, Cinzia, Difrancesco, J, Castellotti, B, Milanesi, R, Ragona, F, Freri, E, Canafoglia, L, Franceschetti, S, Ferrarese, C, Magri, S, Taroni, F, Costa, C, Labate, A, Gambardella, A, Solazzi, R, Binda, A, Rivolta, I, Di Gennaro, G, Casciato, S, D'Incerti, L, Barbuti, A, Difrancesco, D, Granata, T, Gellera, C, DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D'Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, and Gellera, Cinzia

Abstract

The Hyperpolarization-activated Cyclic Nucleotide-gated (HCN) channels are highly expressed in the Central Nervous Systems, where they are responsible for the I h current. Together with specific accessory proteins, these channels finely regulate neuronal excitability and discharge activity. In the last few years, a substantial body of evidence has been gathered showing that modifications of I h can play an important role in the pathogenesis of epilepsy. However, the extent to which HCN dysfunction is spread among the epileptic population is still unknown. The aim of this work is to evaluate the impact of genetic mutations potentially affecting the HCN channels’ activity, using a NGS approach. We screened a large cohort of patients with epilepsy of unknown etiology for mutations in HCN1, HCN2 and HCN4 and in genes coding for accessory proteins (MiRP1, Filamin A, Caveolin-3, TRIP8b, Tamalin, S-SCAM and Mint2). We confirmed the presence of specific mutations of HCN genes affecting channel function and predisposing to the development of the disease. We also found several previously unreported additional genetic variants, whose contribution to the phenotype remains to be clarified. According to these results and data from literature, alteration of HCN1 channel function seems to play a major role in epilepsy, but also dysfunctional HCN2 and HCN4 channels can predispose to the development of the disease. Our findings suggest that inclusion of the genetic screening of HCN channels in diagnostic procedures of epileptic patients should be recommended. This would help pave the way for a better understanding of the role played by I h dysfunction in the pathogenesis of epilepsy.

Published
2019

158. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA Epilepsy study

Author

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

159. Management of status epilepticus in patients with liver or kidney disease: a narrative review.

Author

Mastroianni, Giovanni, Iannone, Luigi Francesco, Roberti, Roberta, Gasparini, Sara, Ascoli, Michele, Cianci, Vittoria, De Sarro, Giovambattista, Gambardella, Antonio, Labate, Angelo, Brigo, Francesco, Russo, Emilio, Aguglia, Umberto, and Ferlazzo, Edoardo

Abstract

Introduction: Status epilepticus (SE) is a neurologic and medical emergency with significant related morbidity and mortality. Hepatic or renal dysfunction can considerably affect the pharmacokinetics of drugs used for SE through a variety of direct or indirect mechanisms. Areas Covered: This review aims to focus on the therapeutic management of SE in patients with hepatic or renal impairment, highlighting drugs' selection and dose changes that may be necessary due to altered drug metabolism and excretion. The references for this review were identified by searches of PubMed and Google Scholar until May 2020. Expert opinion: According to literature evidence and clinical experience, in patients with renal disease, the authors suggest considering lorazepam as the drug of choice in pre-hospital and intra-hospital early-stage SE, phenytoin in definite SE, propofol in refractory or super-refractory SE. In patients with liver disease, the authors suggest the use of lorazepam as drug of choice in pre-hospital and intra-hospital early-stage SE, lacosamide in definite SE, propofol in refractory or super-refractory SE. A list of preferred drugs for all SE stages is provided. [ABSTRACT FROM AUTHOR]

Published
2021
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162. Two Novel SCN1A Missense Mutations in Generalized Epilepsy with Febrile Seizures Plus

Author

Annesi, Grazia, Gambardella, Antonio, Carrideo, Sara, Incorpora, Gemma, Labate, Angelo, Pasqua, Angela Aurora, Civitelli, Donatella, Polizzi, Agata, Annesi, Ferdinanda, Spadafora, Patrizia, Tarantino, Patrizia, Candiano, Innocenza C. Cirò, Romeo, Nelide, De Marco, Elvira Valeria, Ventura, Patrizia, LePiane, Emilio, Zappia, Mario, Aguglia, Umberto, Pavone, Lorenzo, and Quattrone, Aldo

Published
2003

165. A Novel Mutation in the Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Genetic and Magnetic Resonance Spectroscopic Findings

Author

Oliveri, Rosario L., Muglia, Maria, De Stefano, Nicole, Mazzei, Rosalucia, Labate, Angelo, Conforti, Francesca L., Patitucci, Allessandra, Gabriele, Anna L., Tagarelli, Giuseppe, Magariello, Angela, Zappia, Mario, Gambardella, Antonio, Federico, Antonio, and Quattrone, Aldo

Published
2001

167. Response to commentary on recommendations for the use of structural MRI in the care of patients with epilepsy: A consensus report from the ILAE Neuroimaging Task Force

Author

Bernasconi, Andrea, primary, Cendes, Fernando, additional, Theodore, William, additional, Gill, Ravnoor S., additional, Koepp, Matthias, additional, Hogan, Robert Edward, additional, Jackson, Graeme, additional, Federico, Paolo, additional, Labate, Angelo, additional, Vaudano, Anna E., additional, Blümcke, Ingmar, additional, Ryvlin, Philippe, additional, and Bernasconi, Neda, additional

Published
2019
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168. Functional activity changes in memory and emotional systems of healthy subjects with déjà vu

Author

Nigro, Salvatore, primary, Cavalli, Salvatore M., additional, Cerasa, Antonio, additional, Riccelli, Roberta, additional, Fortunato, Francesco, additional, Bianco, Maria Giovanna, additional, Martino, Iolanda, additional, Chiriaco, Carmelina, additional, Vaccaro, Maria Grazia, additional, Quattrone, Aldo, additional, Gambardella, Antonio, additional, and Labate, Angelo, additional

Published
2019
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169. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Author

Feng, Yen-Chen Anne, primary, Howrigan, Daniel P., additional, Abbott, Liam E., additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea, additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Heinzen, Erin L., additional, Dhindsa, Ryan S., additional, Stanley, Kate E., additional, Cavalleri, Gianpiero L., additional, Hakonarson, Hakon, additional, Helbig, Ingo, additional, Krause, Roland, additional, May, Patrick, additional, Weckhuysen, Sarah, additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M., additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, De Jonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Kwan, Patrick, additional, Marson, Anthony G., additional, Stewart, Randy, additional, Depondt, Chantal, additional, Dlugos, Dennis J., additional, Scheffer, Ingrid E., additional, Striano, Pasquale, additional, Freyer, Catharine, additional, McKenna, Kevin, additional, Regan, Brigid M., additional, Bellows, Susannah T., additional, Leu, Costin, additional, Bennett, Caitlin A., additional, Johns, Esther M.C., additional, Macdonald, Alexandra, additional, Shilling, Hannah, additional, Burgess, Rosemary, additional, Weckhuysen, Dorien, additional, Bahlo, Melanie, additional, O’Brien, Terence J., additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M., additional, Sadoway, Tara R., additional, Mo, Kelly, additional, Krestel, Heinz, additional, Gallati, Sabina, additional, Papacostas, Savvas S., additional, Kousiappa, Ioanna, additional, Tanteles, George A., additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S., additional, Knake, Susanne, additional, Kunz, Wolfram S., additional, Zsurka, Gábor, additional, Elger, Christian E., additional, Bauer, Jürgen, additional, Rademacher, Michael, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, van Baalen, Andreas, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D., additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R., additional, Krey, Ilona, additional, Weber, Yvonne G., additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Maisch, Ana F., additional, Steinhoff, Bernhard J., additional, Schulze-Bonhage, Andreas, additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Borggräfe, Ingo, additional, Schankin, Christoph J., additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Auvinen, Pia, additional, Saarela, Anni, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, Pickrell, William O., additional, Powell, Robert, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R., additional, Auce, Pauls, additional, Sills, Graeme J., additional, Baum, Larry W., additional, Sham, Pak C., additional, Cherny, Stacey S., additional, Lui, Colin H.T., additional, Barišić, Nina, additional, Delanty, Norman, additional, Doherty, Colin P., additional, Shukralla, Arif, additional, McCormack, Mark, additional, El-Naggar, Hany, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Zara, Federico, additional, Iacomino, Michele, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Mancardi, Maria Margherita, additional, Salpietro, Vincenzo, additional, Bisulli, Francesca, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, Pippucci, Tommaso, additional, Stipa, Carlotta, additional, Minardi, Raffaella, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Marini, Carla, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Tumiene, Birute, additional, Sadleir, Lynette G., additional, King, Chontelle, additional, Mountier, Emily, additional, Caglayan, S. Hande, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Yis, Uluc, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Poduri, Annapurna, additional, Shiedley, Beth R., additional, Shain, Catherine, additional, Buono, Russell J., additional, Ferraro, Thomas N., additional, Sperling, Michael R., additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A., additional, Schachter, Steven, additional, Kuzniecky, Ruben I., additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Khankhanian, Pouya, additional, Helbig, Katherine L., additional, Ellis, Colin A., additional, Spalletta, Gianfranco, additional, Piras, Fabrizio, additional, Piras, Federica, additional, Gili, Tommaso, additional, Ciullo, Valentina, additional, Reif, Andreas, additional, McQuillin, Andrew, additional, Bass, Nick, additional, McIntosh, Andrew, additional, Blackwood, Douglas, additional, Johnstone, Mandy, additional, Palotie, Aarno, additional, Pato, Michele T., additional, Pato, Carlos N., additional, Bromet, Evelyn J., additional, Carvalho, Celia Barreto, additional, Achtyes, Eric D., additional, Azevedo, Maria Helena, additional, Kotov, Roman, additional, Lehrer, Douglas S., additional, Malaspina, Dolores, additional, Marder, Stephen R., additional, Medeiros, Helena, additional, Morley, Christopher P., additional, Perkins, Diana O., additional, Sobell, Janet L., additional, Buckley, Peter F., additional, Macciardi, Fabio, additional, Rapaport, Mark H., additional, Knowles, James A., additional, Fanous, Ayman H., additional, McCarroll, Steven A., additional, Gupta, Namrata, additional, Gabriel, Stacey B., additional, Daly, Mark J., additional, Lander, Eric S., additional, Lowenstein, Daniel H., additional, Goldstein, David B., additional, Lerche, Holger, additional, Berkovic, Samuel F., additional, and Neale, Benjamin M., additional

Published
2019
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170. Recommendations for the use of structural magnetic resonance imaging in the care of patients with epilepsy: A consensus report from the International League Against Epilepsy Neuroimaging Task Force

Author

Bernasconi, Andrea, primary, Cendes, Fernando, additional, Theodore, William H., additional, Gill, Ravnoor S., additional, Koepp, Matthias J., additional, Hogan, Robert Edward, additional, Jackson, Graeme D., additional, Federico, Paolo, additional, Labate, Angelo, additional, Vaudano, Anna Elisabetta, additional, Blümcke, Ingmar, additional, Ryvlin, Philippe, additional, and Bernasconi, Neda, additional

Published
2019
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172. Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features

Author

Berkovic, Samuel F, primary, Oliver, Karen L, additional, Canafoglia, Laura, additional, Krieger, Penina, additional, Damiano, John A, additional, Hildebrand, Michael S, additional, Morbin, Michela, additional, Vears, Danya F, additional, Sofia, Vito, additional, Giuliano, Loretta, additional, Garavaglia, Barbara, additional, Simonati, Alessandro, additional, Santorelli, Filippo M, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Belcastro, Vincenzo, additional, Castellotti, Barbara, additional, Ozkara, Cigdem, additional, Zeman, Adam, additional, Rankin, Julia, additional, Mole, Sara E, additional, Aguglia, Umberto, additional, Farrell, Michael, additional, Rajagopalan, Sulekha, additional, McDougall, Alan, additional, Brammah, Susan, additional, Andermann, Frederick, additional, Andermann, Eva, additional, Dahl, Hans-Henrik M, additional, Franceschetti, Silvana, additional, and Carpenter, Stirling, additional

Published
2018
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174. A loss-of-function HCN4 mutation associated with familial benign myoclonic epilepsy in infancy causes increased neuronal excitability

Author

Campostrini, G, Difrancesco, J, Castellotti, B, Milanesi, R, Gnecchi-Ruscone, T, Bonzanni, M, Bucchi, A, Baruscotti, M, Ferrarese, C, Franceschetti, S, Canafoglia, L, Ragona, F, Freri, E, Labate, A, Gambardella, A, Costa, C, Gellera, C, Granata, T, Barbuti, A, Difrancesco, D, Difrancesco, JC, Freri, Elena, Labate, Angelo, Campostrini, G, Difrancesco, J, Castellotti, B, Milanesi, R, Gnecchi-Ruscone, T, Bonzanni, M, Bucchi, A, Baruscotti, M, Ferrarese, C, Franceschetti, S, Canafoglia, L, Ragona, F, Freri, E, Labate, A, Gambardella, A, Costa, C, Gellera, C, Granata, T, Barbuti, A, Difrancesco, D, Difrancesco, JC, Freri, Elena, and Labate, Angelo

Abstract

HCN channels are highly expressed and functionally relevant in neurons and increasing evidence demonstrates their involvement in the etiology of human epilepsies. Among HCN isoforms, HCN4 is important in cardiac tissue, where it underlies pacemaker activity. Despite being expressed also in deep structures of the brain, mutations of this channel functionally shown to be associated with epilepsy have not been reported yet. Using Next Generation Sequencing for the screening of patients with idiopathic epilepsy, we identified the p.Arg550Cys (c.1648C>T) heterozygous mutation on HCN4 in two brothers affected by benign myoclonic epilepsy of infancy. Functional characterization in heterologous expression system and in neurons showed that the mutation determines a loss of function of HCN4 contribution to activity and an increase of neuronal discharge, potentially predisposing to epilepsy. Expressed in cardiomyocytes, mutant channels activate at slightly more negative voltages than wild-type (WT), in accordance with borderline bradycardia. While HCN4 variants have been frequently associated with cardiac arrhythmias, these data represent the first experimental evidence that functional alteration of HCN4 can also be involved in human epilepsy through a loss-of-function effect and associated increased neuronal excitability. Since HCN4 appears to be highly expressed in deep brain structures only early during development, our data provide a potential explanation for a link between dysfunctional HCN4 and infantile epilepsy. These findings suggest that it may be useful to include HCN4 screening to extend the knowledge of the genetic causes of infantile epilepsies, potentially paving the way for the identification of innovative therapeutic strategies.

Published
2018

175. A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

Author

Bonzanni, M, Difrancesco, J, Milanesi, R, Campostrini, G, Castellotti, B, Bucchi, A, Baruscotti, M, Ferrarese, C, Franceschetti, S, Canafoglia, L, Ragona, F, Freri, E, Labate, A, Gambardella, A, Costa, C, Rivolta, I, Gellera, C, Granata, T, Barbuti, A, Difrancesco, D, Bonzanni, Mattia, DiFrancesco, Jacopo C., Milanesi, Raffaella, Campostrini, Giulia, Castellotti, Barbara, Bucchi, Annalisa, Baruscotti, Mirko, Ferrarese, Carlo, Franceschetti, Silvana, Canafoglia, Laura, Ragona, Francesca, Freri, Elena, Labate, Angelo, Gambardella, Antonio, Costa, Cinzia, RIVOLTA, ILARIA, Gellera, Cinzia, Granata, Tiziana, Barbuti, Andrea, DiFrancesco, Dario, Bonzanni, M, Difrancesco, J, Milanesi, R, Campostrini, G, Castellotti, B, Bucchi, A, Baruscotti, M, Ferrarese, C, Franceschetti, S, Canafoglia, L, Ragona, F, Freri, E, Labate, A, Gambardella, A, Costa, C, Rivolta, I, Gellera, C, Granata, T, Barbuti, A, Difrancesco, D, Bonzanni, Mattia, DiFrancesco, Jacopo C., Milanesi, Raffaella, Campostrini, Giulia, Castellotti, Barbara, Bucchi, Annalisa, Baruscotti, Mirko, Ferrarese, Carlo, Franceschetti, Silvana, Canafoglia, Laura, Ragona, Francesca, Freri, Elena, Labate, Angelo, Gambardella, Antonio, Costa, Cinzia, RIVOLTA, ILARIA, Gellera, Cinzia, Granata, Tiziana, Barbuti, Andrea, and DiFrancesco, Dario

Abstract

The causes of genetic epilepsies are unknown in the majority of patients. HCN ion channels have a widespread expression in neurons and increasing evidence demonstrates their functional involvement in human epilepsies. Among the four known isoforms, HCN1 is the most expressed in the neocortex and hippocampus and de novo HCN1 point mutations have been recently associated with early infantile epileptic encephalopathy. So far, HCN1 mutations have not been reported in patients with idiopathic epilepsy. Using a Next Generation Sequencing approach, we identified the de novo heterozygous p.Leu157Val (c.469C > G) novel mutation in HCN1 in an adult male patient affected by genetic generalized epilepsy (GGE), with normal cognitive development. Electrophysiological analysis in heterologous expression model (CHO cells) and in neurons revealed that L157V is a loss-of-function, dominant negative mutation causing reduced HCN1 contribution to net inward current and responsible for an increased neuronal firing rate and excitability, potentially predisposing to epilepsy. These data represent the first evidence that autosomal dominant missense mutations of HCN1 can also be involved in GGE, without the characteristics of epileptic encephalopathy reported previously. It will be important to include HCN1 screening in patients with GGE, in order to extend the knowledge of the genetic causes of idiopathic epilepsies, thus paving the way for the identification of innovative therapeutic strategies.

Published
2018

177. The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures

Author

Vasta, Roberta, primary, Cerasa, Antonio, additional, Sarica, Alessia, additional, Bartolini, Emanuele, additional, Martino, Iolanda, additional, Mari, Francesco, additional, Metitieri, Tiziana, additional, Quattrone, Aldo, additional, Gambardella, Antonio, additional, Guerrini, Renzo, additional, and Labate, Angelo, additional

Published
2018
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178. A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

Author

Bonzanni, Mattia, primary, DiFrancesco, Jacopo C., additional, Milanesi, Raffaella, additional, Campostrini, Giulia, additional, Castellotti, Barbara, additional, Bucchi, Annalisa, additional, Baruscotti, Mirko, additional, Ferrarese, Carlo, additional, Franceschetti, Silvana, additional, Canafoglia, Laura, additional, Ragona, Francesca, additional, Freri, Elena, additional, Labate, Angelo, additional, Gambardella, Antonio, additional, Costa, Cinzia, additional, Rivolta, Ilaria, additional, Gellera, Cinzia, additional, Granata, Tiziana, additional, Barbuti, Andrea, additional, and DiFrancesco, Dario, additional

Published
2018
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179. Diagnostic Biomarkers of Epilepsy

Author

Sueri, Chiara, primary, Gasparini, Sara, additional, Balestrini, Simona, additional, Labate, Angelo, additional, Gambardella, Antonio, additional, Russo, Emilio, additional, Leo, Antonio, additional, Casarotto, Silvia, additional, Pittau, Francesca, additional, Trimboli, Michele, additional, Cianci, Vittoria, additional, Ascoli, Michele, additional, Cavalli, Salvatore M., additional, Ferrigno, Giulia, additional, Aguglia, Umberto, additional, and Ferlazzo, Edoardo, additional

Published
2018
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180. A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

Author

Campostrini, Giulia, primary, DiFrancesco, Jacopo C., additional, Castellotti, Barbara, additional, Milanesi, Raffaella, additional, Gnecchi-Ruscone, Tomaso, additional, Bonzanni, Mattia, additional, Bucchi, Annalisa, additional, Baruscotti, Mirko, additional, Ferrarese, Carlo, additional, Franceschetti, Silvana, additional, Canafoglia, Laura, additional, Ragona, Francesca, additional, Freri, Elena, additional, Labate, Angelo, additional, Gambardella, Antonio, additional, Costa, Cinzia, additional, Gellera, Cinzia, additional, Granata, Tiziana, additional, Barbuti, Andrea, additional, and DiFrancesco, Dario, additional

Published
2018
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182. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Author

Tomson, Torbjörn, primary, Battino, Dina, additional, Bonizzoni, Erminio, additional, Craig, John, additional, Lindhout, Dick, additional, Perucca, Emilio, additional, Sabers, Anne, additional, Thomas, Sanjeev V, additional, Vajda, Frank, additional, Faravelli, Francesca, additional, Pantaleoni, Chiara, additional, Robert-Gnansia, Elisabeth, additional, Cabral-Lim, Leonor, additional, Čebular, Boštjan, additional, De Marinis, Alejandro, additional, Kälviäinen, Reetta, additional, Khomeriki, Ketevan, additional, Kiteva-Trencevska, Gordana, additional, Kochen, Silvia, additional, Kurthen, Martin, additional, Luef, Gerhard, additional, Martinez Ferri, Meritxell, additional, Milovanović, Maja, additional, Nakken, Karl Otto, additional, Neufeld, Miri, additional, Ohtani, Hideyuki, additional, Russell, Aline, additional, Safcák, Vladimír, additional, Schmitz, Bettina, additional, Specchio, Luigi Maria, additional, Tettenborn, Barbara, additional, van Puijenbroek, Eugene, additional, Yu, Hsiang-Yu, additional, Zarubova, Jana, additional, Albretsen, Claus, additional, Alvestad, Silje, additional, Andersen, Noemi Becser, additional, Antonini, Luisa, additional, Arentsen, Jens, additional, Aurlien, Dag, additional, Barzinji, Ismael, additional, Becerra Cuñat, Juan Luis, additional, Bohorquez Morera, Natalia, additional, Brodie, Martin J., additional, Brodtkorb, Eylert, additional, Broglio, Laura, additional, Bruun Christensen, Elsebeth, additional, Bušek, Petr, additional, Cagnetti, Claudia, additional, Canevini, Maria Paola, additional, Carius, Astrid, additional, Castro Vilanova, Maria Dolores, additional, Cecconi, Michela, additional, Chang, T-Y, additional, Christensen, Jakob, additional, De Maria, Giovanni, additional, Dennig, Dieter, additional, Diputado, Brenda, additional, Ertresvåg, Janne Marit, additional, Escartin, Toni, additional, Flügel, Dominique, additional, Forsom Sondal, Birgitte, additional, Foschi, Nicoletta, additional, Franza, Albertina, additional, Fukushima, Katsuyuki, additional, Gambardella, Antonio, additional, Garamendi Ruiz, Iñigo, additional, Gauffin, Helena, additional, Gellert, Pia, additional, Gjerstad, Leif, additional, Gordon, Lisa, additional, Haggag, Katrine, additional, Halawa, Imad, additional, Heikinheimo-Connell, Terttu, additional, Hendgen, Tim, additional, Hertz, Zarouhi, additional, Hildenhagen, Odo, additional, Hödl, Stephanie, additional, Hogenesch, Ineke, additional, Huuse Farmen, Anette, additional, Inoue, Yushi, additional, Juhl, Stefan, additional, Kato, Masaaki, additional, Kenou Van Rijckevorssel, Germaine, additional, Kluck, E., additional, Krijtová, Hana, additional, Kumlien, Eva, additional, Labate, Angelo, additional, Lasch, Theresa, additional, Lindsten, Hans, additional, Listonova, Renata, additional, Lossius, Rasmus, additional, Lundgren, Anders, additional, Malmgren, Kristina, additional, Marečková, Iva, additional, Marino, Daniela, additional, Mattsson, Peter, additional, McGonigal, Aileen, additional, Miesczanleh, Katarzyna, additional, Mizobuchi, Masahiro, additional, Mostacci, Barbara, additional, Müffelmann, Birgit, additional, Navn, Uden, additional, Nilsson, Anders, additional, Oehl, Bernhard, additional, Ortenzi, Andrea, additional, Osseforth, Judith, additional, Paggi, Aldo, additional, Pastor, Eliana, additional, Pedersen, Birthe, additional, Petrenaite, Vaiva, additional, Pignatta, Pietro, additional, Pires, Isabel, additional, Pistelli, Alessandra, additional, Riuz Gimenez, Jesús Antonio, additional, Rocchi, Raffaele, additional, Rodam, Lone, additional, Roivainen, Reina, additional, Rytířová, Gisela, additional, Samsonsen, Christian, additional, Sansa Fayos, Gemma, additional, Saukkonen, Anna Maija, additional, Sikiric, Alma, additional, Sopelana Garay, David, additional, Steinhoff, Bernhard, additional, Strandberg, Maria, additional, Svendsen, Torleiv, additional, Tauboll, Erik, additional, Terada, Kiyohito, additional, Trivisano, Marina, additional, Turner, Katherine, additional, Worm, Mogens, additional, Zakharia, Elias, additional, Zambrelli, Elena, additional, and Zarifi-Oskoie, Morteza, additional

Published
2018
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186. Corrigendum to “Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study” [Epilepsy Behav 74 (2017) Pages 69–72]

Author

Vasta, Roberta, primary, Sarica, Alessia, additional, Bisulli, Francesca, additional, Di Gennaro, Giancarlo, additional, D'Aniello, Alfredo, additional, Difrancesco, Jacopo C., additional, Canafoglia, Laura, additional, Casazza, Marina, additional, Franceschetti, Silvana, additional, Stipa, Carlotta, additional, Tinuper, Paolo, additional, Mumoli, Laura, additional, Gambardella, Antonio, additional, and Labate, Angelo, additional

Published
2017
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187. Relevance of clinical context in the diagnostic-therapeutic approach to status epilepticus

Author

Aguglia, Umberto, Sueri, Chiara, Gasparini, Sara, Beghi, Ettore, Labate, Angelo, Gambardella, Antonio, Specchio, Luigi M., Ferlazzo, Edoardo, Aloisi, Paolo, Belcastro, Vincenzo, Benna, Paolo, Bianchi, Amedeo, Bogliun, Graziella, Brigo, Francesco, Buttinelli, Carla, Campostrini, Roberto, Cantello, Roberto, Anna, Teresa Cantisani, Cianci, Vittoria, Congia, Socrate, Consoli, Domenico, Costanzo, Erminio, De Falco Fabrizio, A., De Maria, Giovanni, Bonaventura, Carlo Di, Di Francesco Jacopo, C., Elia, Maurizio, Carlo, Andrea Galimberti, Giallonardo Anna, Teresa, Gigli Gian, Luigi, Iannacchero, Rosario, Iudice, Alfonso, La Neve, Angela, Latella Maria, Adele, Le Piane, Emilio, Marciani Maria, Grazia, Marino, Daniela, Mecarelli, Oriano, Michelucci, Roberto, Minicucci, Fabio, Monti, Fabrizio, Mumoli, Laura, Paciello, Nicola, Paladin, Francesco, Palumbo, Pasquale, Pisani, Francesco, Pisani Laura, Rosa, Sartucci, Ferdinando, Sasanelli, Francesco, Sofia, Vito, Striano, Pasquale, Striano, Salvatore, Strigaro, Gionata, Tinuper, Paolo, Verri, Annapia, Villani, Flavio, Zaccara, Gaetano, Capovilla, Giuseppe, Ferlisi, Monica, Aguglia, U, Sueri, C, Gasparini, S, Beghi, E, Labate, A, Gambardella, A, Specchio, L.M, Ferlazzo, E, Epilepsy Study Group of the Italian Neurological Society and of the Subcommission on Status Epilepticus of the Italian League Against Epilepsy [, Tinuper, P., and ]

Subjects
0301 basic medicine, medicine.medical_specialty, MEDLINE, Context (language use), Status epilepticus, Neurology, Neurology (clinical), 03 medical and health sciences, Therapeutic approach, 0302 clinical medicine, Text mining, Status Epilepticus, medicine, Humans, Relevance (information retrieval), Electroencephalography, Intensive care medicine, SE, Epilepsy, business.industry, 030104 developmental biology, status epilepticu, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

n.a.

Published
2016
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192. Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients

Author

Sueri, Chiara, primary, Ferlazzo, Edoardo, additional, Elia, Maurizio, additional, Bonanni, Paolo, additional, Randazzo, Giovanna, additional, Gasparini, Sara, additional, D'Agostino, Tiziana, additional, Sapone, Antonino R., additional, Ascoli, Michele, additional, Bellavia, Marina A., additional, Cianci, Vittoria, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, and Aguglia, Umberto, additional

Published
2017
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194. Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study

Author

Vasta, Roberta, primary, Sarica, Alessia, additional, Bisulli, Francesca, additional, Di Gennaro, Giancarlo, additional, D'Aniello, Alfredo, additional, Difrancesco, Jacopo C., additional, Canafoglia, Laura, additional, Casazza, Marina, additional, Franceschetti, Silvana, additional, Stipa, Carlotta, additional, Tinuper, Paolo, additional, Mumoli, Laura, additional, Gambardella, Antonio, additional, and Labate, Angelo, additional

Published
2017
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195. Validation Study of Italian Version of Inventory for Déjà Vu Experiences Assessment (I-IDEA): A Screening Tool to Detect Déjà Vu Phenomenon in Italian Healthy Individuals

Author

Mumoli, Laura, primary, Tripepi, Giovanni, additional, Aguglia, Umberto, additional, Augimeri, Antonio, additional, Baggetta, Rossella, additional, Bisulli, Francesca, additional, Bruni, Antonella, additional, Cavalli, Salvatore, additional, D’Aniello, Alfredo, additional, Daniele, Ornella, additional, Di Bonaventura, Carlo, additional, Di Gennaro, Giancarlo, additional, Fattouch, Jinane, additional, Ferlazzo, Edoardo, additional, Ferrari, Alessandra, additional, Giallonardo, Annateresa, additional, Gasparini, Sara, additional, Nigro, Salvatore, additional, Romigi, Andrea, additional, Sofia, Vito, additional, Tinuper, Paolo, additional, Vaccaro, Maria, additional, Zummo, Leila, additional, Quattrone, Aldo, additional, Gambardella, Antonio, additional, and Labate, Angelo, additional

Published
2017
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197. Profile of brivaracetam and its potential in the treatment of epilepsy

Author

Ferlazzo, Edoardo, Russo,Emilio, Mumoli,Laura, Sueri,Chiara, Gasparini,Sara, Palleria,Caterina, Labate,Angelo, Gambardella,Antonio, De Sarro,Giovambattista, and Aguglia,Umberto

Subjects
Neuropsychiatric Disease and Treatment
Abstract

Edoardo Ferlazzo,1,2 Emilio Russo,3 Laura Mumoli,1 Chiara Sueri,2 Sara Gasparini,1,2 Caterina Palleria,3 Angelo Labate,1 Antonio Gambardella,1 Giovambattista De Sarro,3 Umberto Aguglia1,2 1Department of Medical and Surgical Sciences, Magna Græcia University, Catanzaro, 2Regional Epilepsy Centre, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, 3Institute of Pharmacology, Magna Græcia University, Catanzaro, Italy Abstract: Brivaracetam (BRV) (UCB 34714) is currently under review by the US Food and Drug Administration and European Medicines Agency for approval as an add-on treatment for adult patients with partial seizures. Similar to levetiracetam (LEV), BRV acts as a high-affinity ligand of the synaptic vesicle protein 2A, however, it has been shown to be 10- to 30-fold more potent than LEV. Moreover, BRV does not share the LEV inhibitory activity on the high voltage Ca2+ channels and AMPA receptors, and it has been reported to act as a partial antagonist on neuronal voltage-gated sodium channels. The pharmacokinetic profile of BRV is favorable and linear, and it undergoes an extensive metabolism into inactive compounds, mainly through the hydrolysis of its acetamide group. Furthermore, it does not significantly interact with other antiepileptic drugs and more than 95% is excreted through the urine, with an unchanged fraction of 8%–11%. BRV has a half-life of approximately 8–9 hours and it is usually given twice daily. To date, a wide range of experimental studies have reported the effectiveness of BRV with regards to partial and generalized seizures. In humans, six randomized, placebo-controlled trials and two meta-analyses highlighted the efficacy, or good tolerability, of BRV as an add-on treatment for patients with uncontrolled partial seizures. A wide dose range of BRV has been evaluated in those trials (5–200 mg), but the most suitable for clinical use appears to be 50–100 mg/day. The most common adverse reactions to BRV are mild to moderate, transient, often improve during the course of the treatment, and mainly consist of central nervous system symptoms, such as fatigue, dizziness, and somnolence. The aim of this paper is to critically review the literature data regarding experimental animal models and clinical trials on BRV, and to define its potential usefulness for the clinicians who manage patients with epilepsy. Keywords: seizures, animal, therapy, drug, antiepileptic

Published
2015

198. Brivaracetam: review of its pharmacology and potential use as adjunctive therapy in patients with partial onset seizures

Author

Russo, Emilio, Mumoli,Laura, Palleria,Caterina, Gasparini,Sara, Citraro,Rita, Labate,Angelo, Ferlazzo,Edoardo, Gambardella,Antonio, and De Sarro,Giovambattista

Subjects
Drug Design, Development and Therapy
Abstract

Laura Mumoli,1 Caterina Palleria,2 Sara Gasparini,1 Rita Citraro,2 Angelo Labate,1 Edoardo Ferlazzo,1 Antonio Gambardella,1 Giovambattista De Sarro,2 Emilio Russo2 1Institute of Neurology, 2Institute of Pharmacology, University Magna Græcia, Catanzaro, Italy Abstract: Brivaracetam (BRV), a high-affinity synaptic vesicle protein 2A ligand, reported to be 10–30-fold more potent than levetiracetam (LEV), is highly effective in a wide range of experimental models of focal and generalized seizures. BRV and LEV similarly bind to synaptic vesicle protein 2A, while differentiating for other pharmacological effects; in fact, BRV does not inhibit high voltage Ca2+ channels and AMPA receptors as LEV. Furthermore, BRV apparently exhibits inhibitory activity on neuronal voltage-gated sodium channels playing a role as a partial antagonist. BRV is currently waiting for approval both in the United States and the European Union as adjunctive therapy for patients with partial seizures. In patients with photosensitive epilepsy, BRV showed a dose-dependent effect in suppressing or attenuating the photoparoxysmal response. In well-controlled trials conducted to date, adjunctive BRV demonstrated efficacy and good tolerability in patients with focal epilepsy. BRV has a linear pharmacokinetic profile. BRV is extensively metabolized and excreted by urine (only 8%–11% unchanged). The metabolites of BRV are inactive, and hydrolysis of the acetamide group is the mainly involved metabolic pathway; hepatic impairment probably requires dose adjustment. BRV does not seem to influence other antiepileptic drug plasma levels. Six clinical trials have so far been completed indicating that BRV is effective in controlling seizures when used at doses between 50 and 200 mg/d. The drug is generally well-tolerated with only mild-to-moderate side effects; this is confirmed by the low discontinuation rate observed in these clinical studies. The most common side effects are related to central nervous system and include fatigue, dizziness, and somnolence; these apparently disappear during treatment. In this review, we analyzed BRV, focusing on the current evidences from experimental animal models to clinical studies with particular interest on potential use in clinical practice. Finally, pharmacological properties of BRV are summarized with a description of its pharmacokinetics, safety, and potential/known drug–drug interactions. Keywords: brivaracetam, epilepsy, partial seizure, adjunctive therapy, antiepileptic drugsCorrigendumfor this paper has been published.&nbsp

Published
2015

199. Deep Learning Representation from Electroencephalography of Early-Stage Creutzfeldt-Jakob Disease and Features for Differentiation from Rapidly Progressive Dementia

Author

Morabito, Francesco Carlo, primary, Campolo, Maurizio, additional, Mammone, Nadia, additional, Versaci, Mario, additional, Franceschetti, Silvana, additional, Tagliavini, Fabrizio, additional, Sofia, Vito, additional, Fatuzzo, Daniela, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Mumoli, Laura, additional, Tripodi, Giovanbattista Gaspare, additional, Gasparini, Sara, additional, Cianci, Vittoria, additional, Sueri, Chiara, additional, Ferlazzo, Edoardo, additional, and Aguglia, Umberto, additional

Published
2016
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200. Hypertension, seizures, and epilepsy: a review on pathophysiology and management.

Author

Gasparini, Sara, Ferlazzo, Edoardo, Sueri, Chiara, Cianci, Vittoria, Ascoli, Michele, Cavalli, Salvatore M., Beghi, Ettore, Belcastro, Vincenzo, Bianchi, Amedeo, Benna, Paolo, Cantello, Roberto, Consoli, Domenico, De Falco, Fabrizio A., Di Gennaro, Giancarlo, Gambardella, Antonio, Gigli, Gian Luigi, Iudice, Alfonso, Labate, Angelo, Michelucci, Roberto, and Paciaroni, Maurizio

Subjects
EPILEPSY, CEREBROVASCULAR disease, HYPERTENSION risk factors, HYPERTENSIVE crisis, RENIN-angiotensin system, POSTERIOR leukoencephalopathy syndrome, HYPERTENSION
Abstract

Background: Epilepsy and hypertension are common chronic conditions, both showing high prevalence in older age groups. This review outlines current experimental and clinical evidence on both direct and indirect role of hypertension in epileptogenesis and discusses the principles of drug treatment in patients with hypertension and epilepsy.Methods: We selected English-written articles on epilepsy, hypertension, stroke, and cerebrovascular disease until December, 2018.Results: Renin-angiotensin system might play a central role in the direct interaction between hypertension and epilepsy, but other mechanisms may be contemplated. Large-artery stroke, small vessel disease and posterior reversible leukoencephalopathy syndrome are hypertension-related brain lesions able to determine epilepsy by indirect mechanisms. The role of hypertension as an independent risk factor for post-stroke epilepsy has not been demonstrated. The role of hypertension-related small vessel disease in adult-onset epilepsy has been demonstrated. Posterior reversible encephalopathy syndrome is an acute condition, often caused by a hypertensive crisis, associated with the occurrence of acute symptomatic seizures. Chronic antiepileptic treatment should consider the risk of drug-drug interactions with antihypertensives.Conclusions: Current evidence from preclinical and clinical studies supports the vision that hypertension may be a cause of seizures and epilepsy through direct or indirect mechanisms. In both post-stroke epilepsy and small vessel disease-associated epilepsy, chronic antiepileptic treatment is recommended. In posterior reversible encephalopathy syndrome blood pressure must be rapidly lowered and prompt antiepileptic treatment should be initiated. [ABSTRACT FROM AUTHOR]

Published
2019
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