| Literature DB >> 23895530 |
John C Mulley1, Bree Hodgson, Jacinta M McMahon, Xenia Iona, Susannah Bellows, Saul A Mullen, Kevin Farrell, Mark Mackay, Lynette Sadleir, Andrew Bleasel, Deepak Gill, Richard Webster, Elaine C Wirrell, Michael Harbord, Sanyjay Sisodiya, Eva Andermann, Sara Kivity, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens.
Abstract
Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS(+) ) in multiplex families and accounts for 70-80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS(+) families could be explained by highly penetrant SCN9A mutations. Wiley Periodicals, Inc.Entities:
Keywords: Clinical heterogeneity; Dravet syndrome; Febrile seizures; Genetic epilepsy with febrile seizures plus; Genetic modifier; Genetic susceptibility; SCN1A; SCN9A; Susceptibility gene
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Year: 2013 PMID： 23895530 DOI： 10.1111/epi.12323
Source DB: PubMed Journal: Epilepsia ISSN： 0013-9580 Impact factor: 5.864