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...
Main Authors: | , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
Public Library of Science
2014
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026576/ |