Article
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Epilepsia - 1 Oct 2011
Milh Mathieu, Villeneuve Nathalie, Chouchane Mondher, Kaminska Anna, Laroche Cécile, Barthez Marie Anne, Gitiaux Cyril, Bartoli Céline, Borges-Correia Ana, Cacciagli Pierre, Mignon-Ravix Cécile, Cuberos Hélène, Chabrol Brigitte, Villard Laurent
Abstract excerpt
PURPOSE: STXBP1 (MUNC18-1) mutations have been associated with various types of epilepsies, mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset epileptic syndromes, we studied this gene in a cohort of patients with early onset epileptic encephalopathy. METHODS: STXBP1 was screened in a multicenter cohort of 52 patients with early onset epilepsy (first seizure...
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