文献

J-GLOBAL ID：202002270998420210   整理番号：20A0507618

痙攣性麻痺,運動障害性四肢麻痺,および乳児痙攣を示す3人の最初に報告された日本人患者を含む,GNB1遺伝子変異患者の表現型-遺伝子型相関

Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

著者 (21件)： Endo Wakaba (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Ikemoto Satoru (Division of Neurology, Saitama Children’s Medical Center, Saitama 330-8777, Japan) ,  Togashi Noriko (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Miyabayashi Takuya (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Nakajima Erika (Division of Neurology, Saitama Children’s Medical Center, Saitama 330-8777, Japan) ,  Hamano Shin-ichiro (Division of Neurology, Saitama Children’s Medical Center, Saitama 330-8777, Japan) ,  Shibuya Moriei (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Sato Ryo (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Takezawa Yusuke (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Okubo Yukimune (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Inui Takehiko (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan) ,  Kato Mitsuhiro (Department of Pediatrics, Showa University School of Medicine, Tokyo 152-8555, Japan) ,  Sengoku Toru (Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan) ,  Ogata Kazuhiro (Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan) ,  Hamanaka Kohei (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan) ,  Mizuguchi Takeshi (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan) ,  Miyatake Satoko (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan) ,  Nakashima Mitsuko (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan) ,  Nakashima Mitsuko (Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan) ,  Haginoya Kazuhiro (Department of Pediatric Neurology, Miyagi Children’s Hospital Hospital, Sendai 989-3126, Japan)
資料名： Brain & Development  (Brain & Development)
巻： 42  号： 2  ページ： 199-204  発行年： 2020年02月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： GNB1遺伝子のミスセンス変異を有する3人の最初の日本人患者...

シソーラス用語： ヒト ,...
準シソーラス用語： GNB1遺伝子 ,...

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著者キーワード (5件)： GNB1 ,  低張性脳性麻ひ ,  てんかんと発達性脳症 ,  遺伝性痙性対麻痺 ,  小児痙攣

分類 (2件)： 神経系の疾患  (GN03000O) ,  遺伝的変異  (EC01030Y)

タイトルに関連する用語 (9件)： 痙攣性麻痺 ,  運動障害 ,  四肢麻痺 ,  乳児痙攣 ,  報告 ,  日本人 ,  患者 ,  遺伝子変異 ,  表現型