Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

por Scerri, Thomas, Riseley, Jessica R, Gillies, Greta, Pope, Kate, Burgess, Rosemary, Mandelstam, Simone A, Dibbens, Leanne, Chow, Chung W, Maixner, Wirginia, Harvey, Anthony Simon, Jackson, Graeme D, Amor, David J, Delatycki, Martin B, Crino, Peter B, Berkovic, Samuel F, Scheffer, Ingrid E, Bahlo, Melanie, Lockhart, Paul J, Leventer, Richard J
Publicado 2015

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

por Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.
Publicado 2019

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

por Ha, Thuong T., Burgess, Rosemary, Newman, Morgan, Moey, Ching, Mandelstam, Simone A., Gardner, Alison E., Ivancevic, Atma M., Pham, Duyen, Kumar, Raman, Smith, Nicholas, Patel, Chirag, Malone, Stephen, Ryan, Monique M., Calvert, Sophie, van Eyk, Clare L., Lardelli, Michael, Berkovic, Samuel F., Leventer, Richard J., Richards, Linda J., Scheffer, Ingrid E., Gecz, Jozef, Corbett, Mark A.
Publicado 2023

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

por Mole, Sara E., Schulz, Angela, Badoe, Eben, Berkovic, Samuel F., de Los Reyes, Emily C., Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M., Mason, Heather L., Mink, Jonathan W., Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E., Scarpa, Maurizio, Scheffer, Ingrid E., Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y., Williams, Ruth E.
Publicado 2021

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

por Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O’Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C
Publicado 2013

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

por Hildebrand, Michael S, Tankard, Rick, Gazina, Elena V, Damiano, John A, Lawrence, Kate M, Dahl, Hans-Henrik M, Regan, Brigid M, Shearer, Aiden Eliot, Smith, Richard J H, Marini, Carla, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E, Reid, Christopher A, Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F
Publicado 2015

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

por Ware, Tyson L., Huskins, Shannon R., Grinton, Bronwyn E., Liu, Yu‐Chi, Bennett, Mark F., Harvey, Michael, McMahon, Jacinta, Andreopoulos‐Malikotsinas, Danae, Bahlo, Melanie, Howell, Katherine B., Hildebrand, Michael S., Damiano, John A., Rosenfeld, Alexander, Mackay, Mark T., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Freeman, Jeremy L., Scheffer, Ingrid E., Jones, Dean L., Berkovic, Samuel F.
Publicado 2019

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

por Ye, Zimeng, Chatterton, Zac, Pflueger, Jahnvi, Damiano, John A, McQuillan, Lara, Simon Harvey, A, Malone, Stephen, Do, Hongdo, Maixner, Wirginia, Schneider, Amy, Nolan, Bernadette, Wood, Martin, Lee, Wei Shern, Gillies, Greta, Pope, Kate, Wilson, Michael, Lockhart, Paul J, Dobrovic, Alexander, Scheffer, Ingrid E, Bahlo, Melanie, Leventer, Richard J, Lister, Ryan, Berkovic, Samuel F, Hildebrand, Michael S
Publicado 2021

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

por Canafoglia, Laura, Franceschetti, Silvana, Gambardella, Antonio, Striano, Pasquale, Giallonardo, Anna Teresa, Tinuper, Paolo, Di Bonaventura, Carlo, Michelucci, Roberto, Ferlazzo, Edoardo, Granata, Tiziana, Magaudda, Adriana, Licchetta, Laura, Filla, Alessandro, La Neve, Angela, Riguzzi, Patrizia, Cantisani, Teresa Anna, Fanella, Martina, CASTELLOTTI, BARBARA, Gellera, Cinzia, Bahlo, Melanie, Zara, Federico, Courage, Carolina, Lehesjoki, Anna-Elina, Oliver, Karen L., Berkovic, Samuel F.
Publicado 2021

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

por Suls, Arvid, Dedeken, Peter, Goffin, Karolien, Van Esch, Hilde, Dupont, Patrick, Cassiman, David, Kempfle, Judith, Wuttke, Thomas V., Weber, Yvonne, Lerche, Holger, Afawi, Zaid, Vandenberghe, Wim, Korczyn, Amos D., Berkovic, Samuel F., Ekstein, Dana, Kivity, Sara, Ryvlin, Philippe, Claes, Lieve R. F., Deprez, Liesbet, Maljevic, Snezana, Vargas, Alberto, Van Dyck, Tine, Goossens, Dirk, Del-Favero, Jurgen, Van Laere, Koen, De Jonghe, Peter, Van Paesschen, Wim
Publicado 2008

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

por Bott, Laura C, Forouhan, Mitra, Lieto, Maria, Sala, Ambre J, Ellerington, Ruth, Johnson, Janel O, Speciale, Alfina A, Criscuolo, Chiara, Filla, Alessandro, Chitayat, David, Alkhunaizi, Ebba, Shannon, Patrick, Nemeth, Andrea H, Angelucci, Francesco, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo
Publicado 2021

A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam

por Campbell, Ciarán, McCormack, Mark, Patel, Sonn, Stapleton, Caragh, Bobbili, Dheeraj, Krause, Roland, Depondt, Chantal, Sills, Graeme J., Koeleman, Bobby P., Striano, Pasquale, Zara, Federico, Sander, Josemir W., Lerche, Holger, Kunz, Wolfram S., Stefansson, Kari, Stefansson, Hreinn, Doherty, Colin P., Heinzen, Erin L., Scheffer, Ingrid E., Goldstein, David B., O'Brien, Terence, Cotter, David, Berkovic, Samuel F., Sisodiya, Sanjay M., Delanty, Norman, Cavalleri, Gianpiero L.
Publicado 2022

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

por Gozzelino, Luca, Kochlamazashvili, Gaga, Baldassari, Sara, Mackintosh, Albert Ian, Licchetta, Laura, Iovino, Emanuela, Liu, Yu Chi, Bennett, Caitlin A, Bennett, Mark F, Damiano, John A, Zsurka, Gábor, Marconi, Caterina, Giangregorio, Tania, Magini, Pamela, Kuijpers, Marijn, Maritzen, Tanja, Norata, Giuseppe Danilo, Baulac, Stéphanie, Canafoglia, Laura, Seri, Marco, Tinuper, Paolo, Scheffer, Ingrid E, Bahlo, Melanie, Berkovic, Samuel F, Hildebrand, Michael S, Kunz, Wolfram S, Giordano, Lucio, Bisulli, Francesca, Martini, Miriam, Haucke, Volker, Hirsch, Emilio, Pippucci, Tommaso
Publicado 2022

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

por Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Publicado 2015

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

por Vlaskamp, Danique R.M., Shaw, Benjamin J., Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T., Bennett, Mark F., XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M., Brooks, Alice S., Mancini, Grazia M.S., van de Laar, Ingrid M.B.H., van Hagen, Johanna M., Ware, Tyson L., Webster, Richard I., Malone, Stephen, Berkovic, Samuel F., Kalnins, Renate M., Sicca, Federico, Korenke, G. Christoph, van Ravenswaaij-Arts, Conny M.A., Hildebrand, Michael S., Mefford, Heather C., Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E.
Publicado 2019

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

por Carvill, Gemma L., Heavin, Sinéad B., Yendle, Simone C., McMahon, Jacinta M., O’Roak, Brian J., Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M. E., Bleasel, Andrew, Howell, Katherine B., Kivity, Sara, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S., Gill, Deepak, Andrade, Danielle M., Freeman, Jeremy L., Sadleir, Lynette G., Shendure, Jay, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Publicado 2013

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

por Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F, Banasik, Karina, Grove, Jakob, Albiñana, Clara, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders D, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, Feenstra, Bjarke
Publicado 2022

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

por Khoshkhoo, Sattar, Wang, Yilan, Chahine, Yasmine, Erson-Omay, E. Zeynep, Robert, Stephanie M., Kiziltug, Emre, Damisah, Eyiyemisi C., Nelson-Williams, Carol, Zhu, Guangya, Kong, Wenna, Huang, August Yue, Stronge, Edward, Phillips, H. Westley, Chhouk, Brian H., Bizzotto, Sara, Chen, Ming Hui, Adikari, Thiuni N., Ye, Zimeng, Witkowski, Tom, Lai, Dulcie, Lee, Nadine, Lokan, Julie, Scheffer, Ingrid E., Berkovic, Samuel F., Haider, Shozeb, Hildebrand, Michael S., Yang, Edward, Gunel, Murat, Lifton, Richard P., Richardson, R. Mark, Blümcke, Ingmar, Alexandrescu, Sanda, Huttner, Anita, Heinzen, Erin L., Zhu, Jidong, Poduri, Annapurna, DeLanerolle, Nihal, Spencer, Dennis D., Lee, Eunjung Alice, Walsh, Christopher A., Kahle, Kristopher T.
Publicado 2023

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

por Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.
Publicado 2015

CHD2 variants are a risk factor for photosensitivity in epilepsy

por Galizia, Elizabeth C., Myers, Candace T., Leu, Costin, de Kovel, Carolien G. F., Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G., Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V., Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S., Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L., Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G., Mullen, Saul A., Berkovic, Samuel F., Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D., Esguerra, Camila V., Kasteleijn-Nolst Trenité, Dorothee G. A., Koeleman, Bobby P. C., Mefford, Heather C., Scheffer, Ingrid E., Sisodiya, Sanjay M.
Publicado 2015