Article
Do mutations in SCN1B cause Dravet syndrome?
Epilepsy research - 1 Jan 2013
Kim Young Ok, Dibbens Leanne, Marini Carla, Suls Arvid, Chemaly Nicole, Mei Davide, McMahon Jacinta M, Iona Xenia, Berkovic Samuel F, De Jonghe Peter, Guerrini Renzo, Nabbout Rima, Scheffer Ingrid E
Abstract excerpt
A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6...
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