Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3568031/
https://ncbi.nlm.nih.gov/pubmed/23409136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0056120
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados