Art
J-GLOBAL ID：201802260679030573   Reference number：18A1181131

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

ATP1A3遺伝子におけるGlu818Lys変異を伴うCAPOS/CAOS症候群のさらなる特性化:症例報告
Author (7)：
Hayashida Takuya

About Hayashida Takuya

(Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan)

About Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan

, 
Saito Yoshiaki

About Saito Yoshiaki

(Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan)

About Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan

, 
Ishii Atsushi

About Ishii Atsushi

(Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan)

About Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan

, 
Hirose Shinichi

About Hirose Shinichi

(Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan)

About Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan

, 
Hiraiwa Rika

About Hiraiwa Rika

(Western Shimane Medical and Welfare Center for the Disabled, Gohtsu, Japan)

About Western Shimane Medical and Welfare Center for the Disabled, Gohtsu, Japan

, 
Maegaki Yoshihiro

About Maegaki Yoshihiro

(Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan)

About Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan

, 
Ohno Kousaku

About Ohno Kousaku

(Sanin Rosai Hospital, Yonago, Japan)

About Sanin Rosai Hospital, Yonago, Japan


Material：
Brain & Development  (Brain & Dev)

About Brain & Development


Volume： 40  Issue： 7  Page： 576-581  Publication year： Aug. 2018 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)
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human(primates)

About human(primates)

,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
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All keywords is available on JDreamIII(charged).
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*ATP1A3遺伝子

About ATP1A3遺伝子

,...
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Author keywords (7)：
ATP1A3

About ATP1A3

, 
Alternating hemiplegia of childhood

About Alternating hemiplegia of childhood

, 
Relapsing encephalopathy

About Relapsing encephalopathy

, 
CAPOS syndrome

About CAPOS syndrome

, 
Optic atrophy

About Optic atrophy

, 
Ophthalmoplegia

About Ophthalmoplegia

, 
Chorea

About Chorea

JST classification (2)：
JST classification
Category name(code) classified by JST.
Diagnostics of congenital diseases, deformities. 
(GD03020G)

About Diagnostics of congenital diseases, deformities.

,  Nervous system diseases 
(GN03000O)

About Nervous system diseases

Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
遺伝子

About 遺伝子

, 
変異

About 変異

, 
症候群

About 症候群

, 
特性化

About 特性化

, 
症例報告

About 症例報告


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