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J-GLOBAL ID：201902231860455685   Reference number：19A2447027

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

良性乳児てんかんおよび発作性運動性ジスキネジアの日本人患者におけるPRRT2変異【JST・京大機械翻訳】

Author (23)： Okumura Akihisa (Department of Pediatrics, Aichi Medical University, Japan) ,  Shimojima Keiko (Institute of Medical Genetics, Tokyo Women’s Medical University, Japan) ,  Kurahashi Hirokazu (Department of Pediatrics, Aichi Medical University, Japan) ,  Numoto Shingo (Department of Pediatrics, Aichi Medical University, Japan) ,  Shimada Shino (Institute of Medical Genetics, Tokyo Women’s Medical University, Japan) ,  Ishii Atsushi (Department of Pediatrics, Fukuoka University School of Medicine, Japan) ,  Ohmori Iori (Department of Physiology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan) ,  Takahashi Satoru (Department of Pediatrics, Asahikawa Medical University, Japan) ,  Awaya Tomonari (Department of Pediatrics, Kyoto University Graduate School of Medicine, Japan) ,  Kubota Tetsuo (Department of Pediatrics, Anjo Kosei Hospital, Japan) ,  Sakakibara Takafumi (Department of Pediatrics, Nara Medical University, Japan) ,  Ishihara Naoko (Department of Pediatrics, Fujita Health University School of Medicine, Japan) ,  Hattori Ayako (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan) ,  Torisu Hiroyuki (Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Japan) ,  Tohyama Jun (Department of Pediatrics Epilepsy Center, Nishi-Niigata Chuo National Hospital, Japan) ,  Inoue Takeshi (Department of Pediatric Neurology, Osaka City General Hospital, Japan) ,  Haibara Akiko (Department of Pediatrics, Tsuchiura Kyodo General Hospital, Japan) ,  Nishida Takuji (National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Japan) ,  Yuhara Yukihiro (Department of Pediatrics, NHO Numata Hospital, Japan) ,  Miya Kazushi (Department of Pediatrics, University of Toyama, Faculty of Medicine and Pharmaceutical Sciences, Japan) ,  Tanaka Ryuta (Department of Child Health, University of Tsukuba, Faculty of Medicine, Japan) ,  Hirose Shinichi (Department of Pediatrics, Fukuoka University School of Medicine, Japan) ,  Yamamoto Toshiyuki (Institute of Medical Genetics, Tokyo Women’s Medical University, Japan)
Material： Seizure: European Journal of Epilepsy
Volume： 71  Page： 1-5  Publication year： 2019 
JST Material Number： W3277A  ISSN： 1059-1311  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： This study was performed to cl...

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Thesaurus term： *infantile epilepsy ,  Mutation ,  Phenotype ,  questionnaire ,  *movement disorder ,  convulsion ,  *seizure (disease) ,  *Epilepsy ,  child ,  case report ,  direct sequencing method ,  *Japanese ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  発病年齢 ,  臨床的特徴 , 【Automatic Indexing@JST】

Author keywords (5)： PRRT2 ,  Benign infantile epilepsy ,  Paroxysmal kinesigenic dyskinesia ,  Febrile seizures ,  Convulsion with gastroenteritis

JST classification (1)： Nervous system diseases  (GN03000O)

Terms in the title (7)： 乳児てんかん ,  発作 ,  運動性 ,  ジスキネジア ,  日本人 ,  患者 ,  変異