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

PLoS ONE

Volumn 8, Issue 2, 2013, Pages

  Ishii, Atsushi ^a   Saito, Yoshiaki ^b   Mitsui, Jun ^c   Ishiura, Hiroyuki ^c   Yoshimura, Jun ^d   Arai, Hidee ^e   Yamashita, Sumimasa ^f   Kimura, Sadami ^g   Oguni, Hirokazu ^h   Morishita, Shinichi ^d   Tsuji, Shoji ^c   Sasaki, Masayuki ^b   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e CHIBA CHILDREN'S HOSPITAL   (Japan)

^f KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^g RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^h TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; ATP1A3 GENE; CAUSAL ATTRIBUTION; CHILD; CHILDHOOD ALTERNATING HEMIPLEGIA; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME REGULATION; EXOME; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; GENOME ANALYSIS; HEMIPLEGIA; HETEROZYGOSITY; HUMAN; JAPANESE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; RESIDUE ANALYSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HEMIPLEGIA; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84873621432     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0056120     Document Type: Article

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