Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy

• Autors principals: Meng Dong (Autor), Tianyu Zhang (Autor), Ruimei Hu (Autor), Meng Li (Autor), Guan Wang (Autor), Xinjie Liu (Autor)
• Format: Llibre
• Publicat: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

ObjectiveSTXBP1 mutations are associated with early onset epileptic encephalopathy (EOEE). Our aim was to explore the phenotype spectrum, clinical treatment and prognosis of STXBP1-related encephalopathy (STXBP1-E).MethodsClinical and genetic data were collected from 10 patients with STXBP1 mutation...