ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

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 addi...

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Bibliographic Details
Main Authors: Yang, Xiaoling, Gao, Hua, Zhang, Jie, Xu, Xiaojing, Liu, Xiaoyan, Wu, Xiru, Wei, Liping, Zhang, Yuehua
Format: Online
Language:English
Published: Public Library of Science 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026576/