ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

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: Xiaoling Yang, Hua Gao, Jie Zhang, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Liping Wei, Yuehua Zhang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4026576?pdf=render

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http://europepmc.org/articles/PMC4026576?pdf=render

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