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Epilepsy Genes : Excitement Traced to Ion Channels
http://hdl.handle.net/10129/1950
http://hdl.handle.net/10129/19502ea2b4aa-4d68-4448-bc70-9a7de0153d28
名前 / ファイル | ライセンス | アクション |
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AN00211444_51-s_s99.pdf (489.1 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2009-06-11 | |||||
タイトル | ||||||
タイトル | Epilepsy Genes : Excitement Traced to Ion Channels | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | epilepsy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | genes | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | autosomal dominant nocturnal frontal lobe epilepsy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | benign familial neonatal convulsions | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | benign adult familial myoclonic epilepsy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | てんかん | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 遺伝子 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 常染色体優性夜間性前頭葉てんかん | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 良性家族性新生児けいれん | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 良性成人型ミオクロニーてんかん | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Kaneko, Sunao
× Kaneko, Sunao× Wada, Kazumaru× Okada, Motohiro× Kawata, Yuko |
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著者(ヨミ) | ||||||
姓名 | カネコ, スナオ | |||||
著者(ヨミ) | ||||||
姓名 | ワダ, カズマル | |||||
著者(ヨミ) | ||||||
姓名 | オカダ, モトヒロ | |||||
著者(ヨミ) | ||||||
姓名 | カワタ, ユウコ | |||||
著者別名 | ||||||
姓名 | 兼子, 直 | |||||
著者別名 | ||||||
姓名 | 和田, 一丸 | |||||
著者別名 | ||||||
姓名 | 岡田, 元宏 | |||||
著者別名 | ||||||
姓名 | 河田, 祐子 | |||||
著者所属 | ||||||
Department of Neuropsychiatry, Hirosaki University School of Medicine | ||||||
著者所属 | ||||||
Department of Neuropsychiatry, Hirosaki University School of Medicine | ||||||
著者所属 | ||||||
Department of Neuropsychiatry, Hirosaki University School of Medicine | ||||||
著者所属 | ||||||
Department of Neuropsychiatry, Hirosaki University School of Medicine | ||||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Epilepsy is a neurological disorder characterized by recurring seizures. It is physiologically characterized by abnormal, excessive and self-terminating discharges from neurons. Epilepsy affects more than 0.5 % of the world's population and has a large genetic component. The most common human genetic epilepsies display a complex pattern of inheritance and the identity of the susceptibility genes is largely unknown. This article reviews recent progress made in molecular genetics of epilepsy, including our own discovery of two novel mutations in the genes of autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions, and our mapping of the genetic locus of benign adult familial myoclonic epilepsy. Pathogenesis of epilepsy as a channelopathy and perspectives of molecular genetic study of epilepsy are also discussed. |
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引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 弘前医学. 51(Suppl.), 1999, p.S99-105 | |||||
書誌情報 |
弘前医学 巻 51, 号 Suppl., p. S99-S105, 発行日 1999-11-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0439-1721 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00211444 | |||||
フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
日本十進分類法 | ||||||
主題Scheme | NDC | |||||
主題 | 493.74 | |||||
その他のタイトル | ||||||
その他のタイトル | てんかんの遺伝子 : イオンチャネルへたどり着いた興奮 | |||||
タイトル(ヨミ) | ||||||
その他のタイトル | テンカン ノ イデンシ : イオン チャネル エ タドリツイタ コウフン | |||||
NIIサブジェクト | ||||||
主題Scheme | Other | |||||
主題 | 内科系臨床医学 | |||||
出版者 | ||||||
出版者 | 弘前大学医学部・弘前医学会 | |||||
資源タイプ | ||||||
値 | Article |