Article
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
PloS one - 1 Jan 2014
Yang Xiaoling, Gao Hua, Zhang Jie, Xu Xiaojing, Liu Xiaoyan, Wu Xiru, Wei Liping, Zhang Yuehua
Abstract excerpt
Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. Here we report the first genetic study in Chinese AHC cohort. We performed whole-exome sequencing on three trios and three unrelated patients, and screened additional 41 typical cases and 100 controls by PCR-Sanger sequencing. ATP1A3 mutations were detected in 95.7% of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.