Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures von Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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Rare copy number variants are an important cause of epileptic encephalopathies von Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James T., Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.

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The spectrum of SCN1A-related infantile epileptic encephalopathies von Harkin, Louise A., McMahon, Jacinta M., Iona, Xenia, Dibbens, Leanne, Pelekanos, James T., Zuberi, Sameer M., Sadleir, Lynette G., Andermann, Eva, Gill, Deepak, Farrell, Kevin, Connolly, Mary, Stanley, Thorsten, Harbord, Michael, Andermann, Frederick, Wang, Jing, Batish, Sat Dev, Jones, Jeffrey G., Seltzer, William K., Gardner, Alison, Sutherland, Grant, Berkovic, Samuel F., Mulley, John C., Scheffer, Ingrid E.

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De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study von Berkovic, Samuel F, Harkin, Louise, McMahon, Jacinta M, Pelekanos, James T, Zuberi, Sameer M, Wirrell, Elaine C, Gill, Deepak S, Iona, Xenia, Mulley, John C, Scheffer, Ingrid E

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SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis von Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Mei, Davide, Cox, Kathy, Dibbens, Leanne M., McMahon, Jacinta M., Iona, Xenia, Carpintero, Rochio Sanchez, Elia, Maurizio, Cilio, Maria Roberta, Specchio, Nicola, Giordano, Lucio, Striano, Pasquale, Gennaro, Elena, Cross, J. Helen, Kivity, Sara, Neufeld, Miriam Y., Afawi, Zaid, Andermann, Eva, Keene, Daniel, Dulac, Olivier, Zara, Federico, Berkovic, Samuel F., Guerrini, Renzo, Mulley, John C.

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Loss of synaptic Zn2+ transporter function increases risk of febrile seizures von Hildebrand, Michael S., Phillips, A. Marie, Mullen, Saul A., Adlard, Paul A., Hardies, Katia, Damiano, John A., Wimmer, Verena, Bellows, Susannah T., McMahon, Jacinta M., Burgess, Rosemary, Hendrickx, Rik, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Scheffer, Ingrid E., Petrou, Steven, Berkovic, Samuel F., Reid, Christopher A.

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Mortality in Dravet syndrome von Cooper, Monica S, Mcintosh, Anne, Crompton, Douglas E, McMahon, Jacinta M, Schneider, Amy, Farrell, Kevin, Ganesan, Vijeya, Gill, Deepak, Kivity, Sara, Lerman-Sagie, Tally, McLellan, Ailsa, Pelekanos, James, Ramesh, Venkateswaran, Sadleir, Lynette, Wirrell, Elaine, Scheffer, Ingrid E

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

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures von Howell, Katherine B, McMahon, Jacinta M, Carvill, Gemma L, Tambunan, Dimira, Mackay, Mark T, Rodriguez-Casero, Victoria, Webster, Richard, Clark, Damian, Freeman, Jeremy L, Calvert, Sophie, Olson, Heather E, Mandelstam, Simone, Poduri, Annapurna, Mefford, Heather C, Harvey, A Simon, Scheffer, Ingrid E

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

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GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome von Carvill, Gemma L, Weckhuysen, Sarah, McMahon, Jacinta M, Hartmann, Corinna, Møller, Rikke S, Hjalgrim, Helle, Cook, Joseph, Geraghty, Eileen, O’Roak, Brian J, Petrou, Steve, Clarke, Alison, Gill, Deepak, Sadleir, Lynette G, Muhle, Hiltrud, von Spiczak, Sarah, Nikanorova, Marina, Hodgson, Bree L, Gazina, Elena V, Suls, Arvid, Shendure, Jay, Dibbens, Leanne M, De Jonghe, Peter, Helbig, Ingo, Berkovic, Samuel F, Scheffer, Ingrid E, Mefford, Heather C

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The phenotypic spectrum of SCN8A encephalopathy von Larsen, Jan, Carvill, Gemma L, Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A, Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M, Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G F, Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Møller, Rikke S

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A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy von Howell, Katherine B., Eggers, Stefanie, Dalziel, Kim, Riseley, Jessica, Mandelstam, Simone, Myers, Candace T., McMahon, Jacinta M., Schneider, Amy, Carvill, Gemma L., Mefford, Heather C., Scheffer, Ingrid E., Harvey, A. Simon

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Sleep problems in Dravet syndrome: a modifiable comorbidity von Licheni, Shane H, Mcmahon, Jacinta M, Schneider, Amy L, Davey, Margot J, Scheffer, Ingrid E

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The severe epilepsy syndromes of infancy: A population‐based study von Howell, Katherine B., Freeman, Jeremy L., Mackay, Mark T., Fahey, Michael C., Archer, John, Berkovic, Samuel F., Chan, Eunice, Dabscheck, Gabriel, Eggers, Stefanie, Hayman, Michael, Holberton, James, Hunt, Rodney W., Jacobs, Susan E., Kornberg, Andrew J., Leventer, Richard J., Mandelstam, Simone, McMahon, Jacinta M., Mefford, Heather C., Panetta, Julie, Riseley, Jessica, Rodriguez‐Casero, Victoria, Ryan, Monique M., Schneider, Amy L., Smith, Lindsay J., Stark, Zornitza, Wong, Flora, Yiu, Eppie M., Scheffer, Ingrid E., Harvey, A. Simon

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Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45 von Carvill, Gemma L., Liu, Aijie, Mandelstam, Simone, Schneider, Amy, Lacroix, Amy, Zemel, Matthew, McMahon, Jacinta M., Bello‐Espinosa, Luis, Mackay, Mark, Wallace, Geoffrey, Waak, Michaela, Zhang, Jing, Yang, Xiaoling, Malone, Stephen, Zhang, Yue‐Hua, Mefford, Heather C., Scheffer, Ingrid E.

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ADGRV1 is implicated in myoclonic epilepsy von Myers, Kenneth A., Nasioulas, Steven, Boys, Amber, McMahon, Jacinta M., Slater, Howard, Lockhart, Paul, Sart, Desirée du, Scheffer, Ingrid E.

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Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families von Marini, Carla, Scheffer, Ingrid E., Crossland, Kathryn M., Grinton, Bronwyn E., Phillips, Fiona L., McMahon, Jacinta M., Turner, Samantha J., Dean, Joanne T., Kivity, Sara, Mazarib, Aziz, Neufeld, Miriam Y., Korczyn, Amos D., Harkin, Louise A., Dibbens, Leanne M., Wallace, Robyn H., Mulley, John C., Berkovic, Samuel F.

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Mutations in KCNT1 cause a spectrum of focal epilepsies von Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh‐Olsen, Bente, Dibbens, Leanne M.

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Do mutations in SCN1B cause Dravet syndrome? von Kim, Young Ok, Dibbens, Leanne, Marini, Carla, Suls, Arvid, Chemaly, Nicole, Mei, Davide, McMahon, Jacinta M, Iona, Xenia, Berkovic, Samuel F, De Jonghe, Peter, Guerrini, Renzo, Nabbout, Rima, Scheffer, Ingrid E

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