Browsing Faculty Publications (CoM) by Subject "FCD"
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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
(2017-08-30)Objective: To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD). Methods: Patients with STXBP1 ...