Art

J-GLOBAL ID：202002213129569650   Reference number：20A1324929

NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

てんかん,小脳性運動失調および振戦の家族におけるNUS1突然変異【JST・京大機械翻訳】

Author (14)： Araki Kunihiko (Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan) ,  Nakamura Ryoichi (Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan) ,  Ito Daisuke (Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan) ,  Kato Kohji (Department of Genetics, Research Institute of Environmental Medicine (RIEM), Nagoya University Graduate School of Medicine, Furo-cho, Chikusa-ku, Nagoya, 464-8601, Japan) ,  Iguchi Yohei (Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan) ,  Sahashi Kentaro (Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan) ,  Toyama Miho (Department of Genetics, Research Institute of Environmental Medicine (RIEM), Nagoya University Graduate School of Medicine, Furo-cho, Chikusa-ku, Nagoya, 464-8601, Japan) ,  Hamada Kensuke (Department of Neurology, Kamiiida Daiichi General Hospital, 2-70 Kamiiida-kitamachi, Kita-ku, Nagoya, 462-0802, Japan) ,  Okamoto Nobuhiko (Department of Molecular Medicine, Research Institute, Osaka Women’s and Children’s Hospital, 840, Murodo-cho, Izumi, Osaka, 594-1101, Japan) ,  Wada Yoshinao (Department of Molecular Medicine, Research Institute, Osaka Women’s and Children’s Hospital, 840, Murodo-cho, Izumi, Osaka, 594-1101, Japan) ,  Nakamura Tomohiko (Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan) ,  Nakamura Tomohiko (Department of Laboratory Medicine, Nagoya University Hospital, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan) ,  Ogi Tomoo (Department of Genetics, Research Institute of Environmental Medicine (RIEM), Nagoya University Graduate School of Medicine, Furo-cho, Chikusa-ku, Nagoya, 464-8601, Japan) ,  Katsuno Masahisa (Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan)
Material： Epilepsy Research
Volume： 164  Page： Null  Publication year： 2020 
JST Material Number： W3270A  ISSN： 0920-1211  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： We report on familial 5 epilep...

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Thesaurus term： gene ,  *tremor(disease) ,  *epilepsy ,  *mutation ,  child ,  frameshift mutation ,  *cerebellar ataxia ,  pathogenesis
Semi thesaurus term： 全身てんかん ,  ヘテロ接合性 ,  常染色体優性遺伝 ,  パーキンソン症状 , 【Automatic Indexing@JST】

Author keywords (5)： NUS1 gene ,  Genetic epilepsy ,  Tremor ,  Cerebellar ataxia ,  Parkinsonism

JST classification (3)： Genetic variation  (EC01030Y) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O)

Terms in the title (5)： てんかん ,  小脳性運動失調 ,  振戦 ,  家族 ,  突然変異