De novo SCN1A mutations in migrating partial seizures of infancy von Carranza Rojo, D, Hamiwka, L, McMahon, J M, Dibbens, L M, Arsov, T, Suls, A, Stödberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, J L, Yendle, S C, Berkovic, S F, Bienvenu, T, De Jonghe, P, Thorburn, D R, Mulley, J C, Mefford, H C, Scheffer, I E

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SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure von Dibbens, L.M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M.A., Joensuu, T., Vears, D.F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A.G., Power, D.A., Tassinari, C.A., Andermann, E., Lehesjoki, A.E., Berkovic, S.F.

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations von DIBBENS, L. M, KNEEN, R, RONAN, A, SCHEFFER, I. E, BAYLY, M. A, HERON, S. E, ARSOV, T, DAMIANO, J. A, DESAI, T, GIBBS, J, MCKENZIE, F, MULLEY, J. C

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Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms von WALLACE, R. H, HODGSON, B. L, YAMAMOTO, T, ANDERMANN, E, MULLEY, J. C, BERKOVIC, S. F, SCHEFFER, I. E, GRINTON, B. E, GARDINER, R. M, ROBINSON, R, RODRIGUEZ-CASERO, V, SADLEIR, L, MORGAN, J, HARKIN, L. A, DIBBENS, L. M

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SCN1A variations and response to multiple antiepileptic drugs von Yip, T S C, O'Doherty, C, Tan, N C K, Dibbens, L M, Suppiah, V

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A new molecular mechanism for severe myoclonic epilepsy of infancy : Exonic deletions in SCN1A von MULLEY, J. C, NELSON, P, SCHEFFER, I. E, GUERRERO, S, DIBBENS, L, IONA, X, MCMAHON, J. M, HARKIN, L, SCHOUTEN, J, YU, S, BERKOVIC, S. F

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The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies von Dibbens, L.M., Harkin, L.A., Richards, M., Hodgson, B.L., Clarke, A.L., Petrou, S., Scheffer, I.E., Berkovic, S.F., Mulley, J.C.

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A polygenic heterogeneity model for common epilepsies with complex genetics von Dibbens, L. M., Heron, S. E., Mulley, J. C.

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NEDD4‐2 as a potential candidate susceptibility gene for epileptic photosensitivity von Dibbens, L. M., Ekberg, J., Taylor, I., Hodgson, B. L., Conroy, S.‐J., Lensink, I. L., Kumar, S., Zielinski, M. A., Harkin, L. A., Sutherland, G. R., Adams, D. J., Berkovic, S. F., Scheffer, I. E., Mulley, J. C., Poronnik, P.

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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures von SCHEFFER, Ingrid E, GRINTON, Bronwyn E, MARINI, Carla, SADLEIR, Lynette G, BERKOVIC, Samuel F, DIBBENS, Leanne M, HERON, Sarah E, KIVITY, Sara, AFAWI, Zaid, IONA, Xenia, GOLDBERG-STERN, Hadassa, KINALI, Maria, ANDREWS, Ian, GUERRINI, Renzo

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Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis von Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lüllmann-Rauch, Renate, Blanz, Judith, Zhang, Ke Wei, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, Bahlo, Melanie

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance von Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.

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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies von Dibbens, Leanne M., Feng, Hua-Jun, Richards, Michaella C., Harkin, Louise A., Hodgson, Bree L., Scott, Darren, Jenkins, Misty, Petrou, Steven, Sutherland, Grant R., Scheffer, Ingrid E., Berkovic, Samuel F., Macdonald, Robert L., Mulley, John C.

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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations von Scheffer, Ingrid E., Harkin, Louise A., Grinton, Bronwyn E., Dibbens, Leanne M., Turner, Samantha J., Zielinski, Marta A., Xu, Ruwei, Jackson, Graeme, Adams, Judith, Connellan, Mary, Petrou, Steven, Wellard, R. Mark, Briellmann, Regula S., Wallace, Robyn H., Mulley, John C., Berkovic, Samuel F.

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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 von STEFFEN, Michael Steffen, LEU, Costin, LA NEVE, Angela, CRICHIUTTI, Giovanni, DE KOVEL, Carolien G. F, TRENITE, Dorothée Kasteleijn-Nolst, DE HAAN, Gerrit-Jan, LINDHOUT, Dick, GAUS, Verena, SCHMITZ, Bettina, JANZ, Dieter, WEBER, Yvonne G, RUPPERT, Ann-Kathrin, BECKER, Felicitas, LERCHE, Holger, STEINHOFF, Bernhard J, KLEEFUSS-LIE, Ailing A, KUNZ, Wolfram S, SURGES, Rainer, ELGER, Christian E, MUHLE, Hiltrud, VON SPICZAK, Sarah, OSTERTAG, Philipp, ZARA, Federico, HELBIG, Ingo, STEPHANI, Ulrich, MØLLER, Rikke S, HJALGRIM, Helle, DIBBENS, Leanne M, BELLOWS, Susannah, OLIVER, Karen, MULLEN, Saul, SCHEFFER, Ingrid E, BERKOVIC, Samuel F, STRIANO, Pasquale, EVERETT, Kate V, GARDINER, Mark R, MARINI, Carla, GUERRINI, Renzo, LEHESJOKI, Anna-Elina, SIREN, Auli, ROBBIANO, Angela, CAPOVILLA, Giuseppe, TINUPER, Paolo, GAMBARDELLA, Antonio, BIANCHI, Amedeo

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Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations von Rubboli, Guido, Plazzi, Giuseppe, Picard, Fabienne, Nobili, Lino, Hirsch, Edouard, Chelly, Jamel, Prayson, Richard A., Boutonnat, Jean, Bramerio, Manuela, Kahane, Philippe, Dibbens, Leanne M., Gardella, Elena, Baulac, Stéphanie, Møller, Rikke S.

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome von Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.

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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families von Hynes, Kim, Tarpey, Patrick, Dibbens, Leanne M, Bayly, Marta A, Berkovic, Samuel F, Smith, Raffaella, Raisi, Zahyia Al, Turner, Samantha J, Brown, Natasha J, Desai, Tarishi D, Haan, Eric, Turner, Gillian, Christodoulou, John, Leonard, Helen, Gill, Deepak, Stratton, Michael R, Gecz, Jozef, Scheffer, Ingrid E

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SCN1A mutations and epilepsy von Mulley, John C., Scheffer, Ingrid E., Petrou, Steven, Dibbens, Leanne M., Berkovic, Samuel F., Harkin, Louise A.

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Neuronal Sodium-Channel alpha 1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus von Wallace, R H, Scheffer, I E, Barnett, S, Richards, M, Dibbens, L, Desai, R R, Lerman-Sagie, T, Lev, D, Mazarib, A, Brand, N, Ben-Zeev, B, Goikhman, I, Singh, R, Kremmidiotis, G

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