Article
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
PloS one - 1 Jan 2013
Ishii Atsushi, Saito Yoshiaki, Mitsui Jun, Ishiura Hiroyuki, Yoshimura Jun, Arai Hidee, Yamashita Sumimasa, Kimura Sadami, Oguni Hirokazu, Morishita Shinichi, Tsuji Shoji, Sasaki Masayuki, Hirose Shinichi
Abstract excerpt
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by transient repeated attacks of paresis and cognitive impairment. Recent studies from the U.S. and Europe have described ATP1A3 mutations in AHC. However, the genotype-phenotype relationship remains unclear. The purpose of this study was to identify the genetic abnormality in a Japanese cohort of AHC using exome analysis....
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