Article
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Epilepsia - 1 Dec 2015
Di Meglio Chloé, Lesca Gaetan, Villeneuve Nathalie, Lacoste Caroline, Abidi Affef, Cacciagli Pierre, Altuzarra Cécilia, Roubertie Agathe, Afenjar Alexandra, Renaldo-Robin Florence, Isidor Bertrand, Gautier Agnes, Husson Marie, Cances Claude, Metreau Julia, Laroche Cécile, Chouchane Mondher, Ville Dorothée, Marignier Stéphanie, Rougeot Christelle, Lebrun Marine, de Saint Martin Anne, Perez Alexandra, Riquet Audrey, Badens Catherine, Missirian Chantal, Philip Nicole, Chabrol Brigitte, Villard Laurent, Milh Mathieu
Abstract excerpt
OBJECTIVE: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. The aim of this study was to retrospectively describe clinical and electroencephalography (EEG) features associated with STXBP1-related...
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