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PreviewIssue DateTitleAuthor(s)
2013Do mutations in SCN1B cause Dravet syndrome?Kim, Y.; Dibbens, L.; Marini, C.; Suls, A.; Chemaly, N.; Mei, D.; McMahon, J.; Iona, X.; Berkovic, S.; De Jonghe, P.; Guerrini, R.; Nabbout, R.; Scheffer, I.
2014Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive declineKim, Y.; Bellows, S.; Mcmahon, J.; Iona, X.; Damiano, J.; Dibbens, L.; Kelley, K.; Gill, D.; Cross, J.; Berkovic, S.; Scheffer, I.
2016Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsyBagnall, R.; Crompton, D.; Petrovski, S.; Lam, L.; Cutmore, C.; Garry, S.; Sadleir, L.; Dibbens, L.; Cairns, A.; Kivity, S.; Afawi, Z.; Regan, B.; Duflou, J.; Berkovic, S.; Scheffer, I.; Semsarian, C.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2011Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsConlin, L.; Kramer, W.; Hutchinson, A.; Li, X.; Riethman, H.; Hakonarson, H.; Mulley, J.; Scheffer, I.; Berkovic, S.; Hosain, S.; Spinner, N.
2010Detection of microchromosomal aberrations in refractory epilepsy: a pilot studyMcMahon, J.; Scheffer, I.; Nicholl, J.; Waters, W.; Eyre, H.; Hinton, L.; Wilson, P.; Yu, S.; Dibbens, L.; Berkovic, S.; Mulley, J.

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