Article
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Brain : a journal of neurology - 1 Mar 2007
Harkin Louise A, McMahon Jacinta M, Iona Xenia, Dibbens Leanne, Pelekanos James T, Zuberi Sameer M, Sadleir Lynette G, Andermann Eva, Gill Deepak, Farrell Kevin, Connolly Mary, Stanley Thorsten, Harbord Michael, Andermann Frederick, Wang Jing, Batish Sat Dev, Jones Jeffrey G, Seltzer William K, Gardner Alison, Sutherland Grant, Berkovic Samuel F, Mulley John C, Scheffer Ingrid E
Abstract excerpt
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high...
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