Art

J-GLOBAL ID：201902258124363096   Reference number：19A1945621

A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy

SMC1Aのミスセンス変異体はPCDH19関連てんかんに類似した周期的薬剤耐性クラスタ発作を引き起こす【JST・京大機械翻訳】

Author (10)： Oguni Hirokazu (Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan) ,  Nishikawa Aiko (Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan) ,  Sato Yu (Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan) ,  Otani Yui (Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan) ,  Ito Susumu (Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan) ,  Nagata Satoru (Department of Pediatrics, Tokyo Women’s Medical University, 8-1 Kawada-Cho, Shinjuku-cu, Tokyo 162-8666, Japan) ,  Kato Mitsuhiro (Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8555, Japan) ,  Hamanaka Kohei (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan) ,  Miyatake Satoko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan)
Material： Epilepsy Research
Volume： 155  Page： Null  Publication year： 2019 
JST Material Number： W3270A  ISSN： 0920-1211  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： SMC1A variants causing Corneli...

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Thesaurus term： woman ,  *cluster ,  *Drug Resistance ,  Phenotype ,  *missense mutation ,  human ,  *seizure (disease) ,  brain disease ,  *Epilepsy ,  gene ,  intelligence disorder ,  metabasis ,  neuropathy ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  幼児期 ,  発症 , 【Automatic Indexing@JST】

Author keywords (5)： SMC1Amissense variant ,  Cluster seizures ,  Periodicity ,  Familial case ,  PCDH19-related epilepsy

JST classification (2)： Nervous system diseases  (GN03000O) ,  Genetic variation  (EC01030Y)

Terms in the title (6)： 変異体 ,  てんかん ,  類似 ,  薬剤耐性 ,  クラスタ ,  発作