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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Veröffentlicht in:	Epilepsia (Copenhagen) 2013-09, Vol.54 (9), p.e122-e126
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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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