Article
Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.
Brain and behavior - 1 May 2020
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
Abstract excerpt
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 epilepsy were analyzed by whole exome sequencing (WES) and low-coverage massively parallel CNV sequencing (CNV-seq)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.