文献

J-GLOBAL ID：201702221124627361   整理番号：17A0742609

de novoのCOL4A1変異を持つ癲癇性脳障害の患者における機能的大脳半球切除後の劇的な応答

Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

著者 (21件)： Hino-Fukuyo Naomi (Center for Genomic Medicine, Tohoku University Hospital, Sendai, Japan) ,  Hino-Fukuyo Naomi (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Kikuchi Atsuo (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Iwasaki Masaki (Department of Neurosurgery, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan) ,  Sato Yuko (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Kubota Yuki (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Kobayashi Tomoko (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Nakayama Tojo (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Haginoya Kazuhiro (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Haginoya Kazuhiro (Department of Neurology, Miyagi Children’s Hospital, Sendai, Japan) ,  Arai-Ichinoi Natsuko (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Niihori Tetsuya (Center for Genomic Medicine, Tohoku University Hospital, Sendai, Japan) ,  Niihori Tetsuya (Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan) ,  Sato Ryo (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Suzuki Tasuku (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Kudo Hiroki (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Funayama Ryo (Division of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University School of Medicine, Sendai, Japan) ,  Nakayama Keiko (Division of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University School of Medicine, Sendai, Japan) ,  Aoki Yoko (Center for Genomic Medicine, Tohoku University Hospital, Sendai, Japan) ,  Aoki Yoko (Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan) ,  Kure Shigeo (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan)
資料名： Brain & Development  (Brain & Development)
巻： 39  号： 4  ページ： 337-340  発行年： 2017年04月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 癲癇性脳障害とde novoのコラーゲンタイプIVα1(CO...

シソーラス用語： *脳疾患 ,...
準シソーラス用語： *COL4A1遺伝子 ,...

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著者キーワード (6件)： COL4A1 ,  Epileptic encephalopathy ,  Hemiplegia ,  Porencephaly ,  Infantile spasms ,  Functional hemispherectomy

分類 (2件)： 小児科の治療  (GC08040I) ,  神経系疾患の外科療法  (GN05030J)

引用文献 (10件)：

• Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, et al. Childhood presentation of COL4A1 mutations. Dev Med Child Neurol 2012;54:569-74.
• Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, et al. Phenotypic spectram of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 2013;73:48-57.
• Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med 2015;17:843-53.
• Iwasaki M, Uematsu M, Osawa S, Shimoda Y, Jin K, Nakasato N, et al. Interhemispheric vertical hemispherotomy: a single center experience. Pediatr Neurosurg 2015;50:295-300.
• Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, et al. Mutations in COL4A1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005;308:1167-71.

タイトルに関連する用語 (5件)： 変異 ,  癲癇性脳障害 ,  患者 ,  大脳半球切除 ,  応答