Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy

BACKGROUND: Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2‐related mutations in Chinese epilepsy children. METHODS: A total of 492 children with e...

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Detalles Bibliográficos
Autores principales: Yang, Li, You, Cuiping, Qiu, Shiyan, Yang, Xiaofan, Li, Yufen, Liu, Feng, Zhang, Dongqing, Niu, Yue, Xu, Liyun, Xu, Na, Li, Xia, Luo, Fang, Yang, Junli, Li, Baomin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218244/
https://www.ncbi.nlm.nih.gov/pubmed/32237035
http://dx.doi.org/10.1002/brb3.1597

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