Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

Summary 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 cont...

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Bibliographic Details
Published in:Epilepsia (Copenhagen) 2013-09, Vol.54 (9), p.e122-e126
Main Authors: Mulley, John C., Hodgson, Bree, McMahon, Jacinta M., Iona, Xenia, Bellows, Susannah, Mullen, Saul A, Farrell, Kevin, Mackay, Mark, Sadleir, Lynette, Bleasel, Andrew, Gill, Deepak, Webster, Richard, Wirrell, Elaine C., Harbord, Michael, Sisodiya, Sanyjay, Andermann, Eva, Kivity, Sara, Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Format: Article
Language:English
Subjects:
Clinical heterogeneity
Convulsions & seizures
Dravet syndrome
Epilepsies, Myoclonic - genetics
Epilepsy
Febrile seizures
Genetic epilepsy with febrile seizures plus
Genetic modifier
Genetic Predisposition to Disease
Genetic susceptibility
Genotype
Humans
Mutation
Mutation - genetics
NAV1.7 Voltage-Gated Sodium Channel - genetics
Pedigree
SCN1A
SCN9A
Seizures, Febrile - genetics
Sodium Channels - genetics
Susceptibility gene
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Summary:Summary 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.
ISSN:0013-9580
1528-1167
DOI:10.1111/epi.12323