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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568031/
https://www.ncbi.nlm.nih.gov/pubmed/23409136
http://dx.doi.org/10.1371/journal.pone.0056120

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