Article
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
Epilepsia - 1 Sept 2013
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
Abstract excerpt
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...
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