Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay

• Váldodahkkit: Xianru Jiao (Dahkki), Manuela Morleo (Dahkki), Vincenzo Nigro (Dahkki), Annalaura Torella (Dahkki), Stefano D'Arrigo (Dahkki), Claudia Ciaccio (Dahkki), Chiara Pantaleoni (Dahkki), Pan Gong (Dahkki), Katheryn Grand (Dahkki), Pedro A. Sanchez-Lara (Dahkki), Joel Krier (Dahkki), Elizabeth Fieg (Dahkki), Andrew Stergachis (Dahkki), Xiaodong Wang (Dahkki), Zhixian Yang (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Objective: To establish and broaden the phenotypic spectrum of secretory carrier membrane protein (SCAMP5) associated with epilepsy and neurodevelopmental delay.Methods: A Chinese patient was identified at the First Hospital of Peking University, and the three unrelated patients were recruited from...