Article
STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern
30 Sept 2010
Abstract excerpt
PURPOSE: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy with suppression-burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects with STXBP1 mutations, and to examine their biologic aspects. METHODS: STXBP1 was analyzed in 29 and 54 cases of cryptogenic EIEE and West syndrome, respectively, as a second cohort. RNA splicing was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.