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

• Main Authors: Xianru Jiao (Author), Manuela Morleo (Author), Vincenzo Nigro (Author), Annalaura Torella (Author), Stefano D'Arrigo (Author), Claudia Ciaccio (Author), Chiara Pantaleoni (Author), Pan Gong (Author), Katheryn Grand (Author), Pedro A. Sanchez-Lara (Author), Joel Krier (Author), Elizabeth Fieg (Author), Andrew Stergachis (Author), Xiaodong Wang (Author), Zhixian Yang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: 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...