Search
Now showing items 1-1 of 1
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 ...