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Annals of Neurology|December 26, 2015
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsyRichard D Bagnall, Douglas E Crompton, Slavé Petrovski, et al.Annals of Neurology|March 4, 2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsIngrid E Scheffer, Sarah E Heron, Brigid M Regan, et al.Brain : a Journal of Neurology|October 6, 2006
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutationsIngrid E Scheffer, Louise A Harkin, Bronwyn E Grinton, et al.Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.Annals of Neurology|March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineCarol J Milligan, Melody Li, Elena V Gazina, et al.Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.Plos One|March 21, 2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresToshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, et al.Epilepsia|July 31, 2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndromeJohn C Mulley, Bree Hodgson, Jacinta M McMahon, et al.Epilepsia|April 23, 2004
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex familiesCarla Marini, Ingrid E Scheffer, Kathryn M Crossland, et al.American Journal of Human Genetics|May 10, 2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaMark A Corbett, Michael Schwake, Melanie Bahlo, et al.Pageof 7