Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

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 mutations were identified in various ways: as part of a retrospective cohort stud…