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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Brain Behav
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7218244/
https://ncbi.nlm.nih.gov/pubmed/32237035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.1597
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados