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

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

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...

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Bibliographic Details
Main Authors: Xianru Jiao, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Stefano D’Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Pan Gong, Katheryn Grand, Pedro A. Sanchez-Lara, Joel Krier, Elizabeth Fieg, Andrew Stergachis, Xiaodong Wang, Zhixian Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Pharmacology
Subjects:
epilepsy
Secretory carrier membrane protein 5
developmental delay
autism spectrum disorder
congenital deformity
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2020.599191/full

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https://www.frontiersin.org/articles/10.3389/fphar.2020.599191/full

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