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

• Asıl Yazarlar: Xianru Jiao (Yazar), Manuela Morleo (Yazar), Vincenzo Nigro (Yazar), Annalaura Torella (Yazar), Stefano D'Arrigo (Yazar), Claudia Ciaccio (Yazar), Chiara Pantaleoni (Yazar), Pan Gong (Yazar), Katheryn Grand (Yazar), Pedro A. Sanchez-Lara (Yazar), Joel Krier (Yazar), Elizabeth Fieg (Yazar), Andrew Stergachis (Yazar), Xiaodong Wang (Yazar), Zhixian Yang (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...