{"created":"2023-05-15T09:02:31.856509+00:00","id":3373,"links":{},"metadata":{"_buckets":{"deposit":"9ac33f67-9a54-4582-9127-28ccc7146dd2"},"_deposit":{"created_by":3,"id":"3373","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3373"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:00003373","sets":["557:558:559"]},"author_link":["9373","9412","9419","9351","9427","9368","9423","9359"],"item_3_alternative_title_21":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Genetic analysis study of febrile seizure, generalized epilepsy with febrile seizure plus, and severe myoclonic epilepsy in infancy to establish genetic diagnosis of the convulsive disorders"}]},"item_3_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2004-11","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"100","bibliographicPageStart":"91","bibliographicVolumeNumber":"16","bibliographic_titles":[{"bibliographic_title":"てんかん治療研究振興財団研究年報"}]}]},"item_3_description_17":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_3_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"熱性けいれん(FS),全般てんかん熱性けいれんプラス(GEFS+),乳児重症ミオクロニーてん\nかん(SMEI)はそれぞれ発熱と関連して発症するけいれん性疾患であるが,臨床症状･重症度･予\n後･薬剤に対する反応性などが著しく異なる｡これらの疾患に対する遺伝子診断法を確立するため\nに,今回以下の研究を行った;A)熱性けいれんに対する5cM単位でのゲノムワイド連鎖解析,B)\nSMEI及び辺縁型SMEI(SMEB)にたいするナトリウムチャネル遺伝子変異解析,C)GEFS+/\nSMEI/SMEBにおけるSCNIAミスセンス変異に関する遺伝子型一表現型相関に関するメタ解析,D)\n上記疾患の候補遺伝子に対するゲノムワイド包括的変異解析｡結果として,SMEI/SMEB患者に\n高頻度(44.8%)にSCNIA変異を認め,その頻度はSMEB群(25.9%)よりもSMEI群(61.30/a)に多く,\ntruncation変異はSMEI群にのみ認めた｡上記の結果はSMEBはSMEIと遺伝学的に同一の疾患\nである事を示唆した｡SCNIAのミスセンス変異はGEFS+/SMEI/SMEBのいずれの表現型も取\nりえたが,SMEI/SMEBを生じる変異は遺伝子中のポア形成領域に高頻度に認められ,またポア形\n成領域のミスセンス変異はより臨床症状が重篤である傾向を示した｡また研究Dでは上記疾患患者\nより新規遺伝子刃こおける病的意義の疑われる変異を認めた｡GEFS十やSMEIで原因となる遺伝子\n変異が不明であるものが末だ多数にのぼり,今後とも新規責任遺伝子の探求が必要と考えられる｡\n今後より多くの症例を集め,これまで既知の責任遺伝子の変異の種類や局在,それぞれ遺伝子変異\nの質的意義(機能解析など)などを解析して遺伝子型一表現型相関をより一層明らかにしていく一方\nで,新たな責任遺伝子とその機能を明らかにしていくことにより,FS/GEFS+/SMEIのより精度の高\nい遺伝子診断の設定が可能となると考えられる。","subitem_description_type":"Abstract"}]},"item_3_description_6":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"兼子直ほか8名による執筆","subitem_description_type":"Other"}]},"item_3_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"てんかん治療研究振興財団研究年報. 16, 2004, p.91-100","subitem_description_type":"Other"}]},"item_3_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"9359","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Kaneko, Sunao"}]},{"nameIdentifiers":[{"nameIdentifier":"9373","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Okada, Motohiro"}]},{"nameIdentifiers":[{"nameIdentifier":"9427","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Zhu, Gang"}]},{"nameIdentifiers":[{"nameIdentifier":"9419","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Kanai, Kazuaki"}]}]},"item_3_publisher_35":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"てんかん治療研究振興財団"}]},"item_3_radio_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_radio_item":"Article"}]},"item_3_rights_14":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"本文データはてんかん治療研究振興財団の許諾に基づき複製したものである。"}]},"item_3_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN10152636","subitem_source_identifier_type":"NCID"}]},"item_3_subject_19":{"attribute_name":"日本十進分類法","attribute_value_mlt":[{"subitem_subject":"493.7","subitem_subject_scheme":"NDC"}]},"item_3_subject_23":{"attribute_name":"NIIサブジェクト","attribute_value_mlt":[{"subitem_subject":"内科系臨床医学","subitem_subject_scheme":"Other"}]},"item_3_text_4":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"弘前大学医学部神経精神科"},{"subitem_text_value":"弘前大学医学部神経精神科"},{"subitem_text_value":"弘前大学医学部神経精神科"},{"subitem_text_value":"弘前大学医学部神経精神科"}]},"item_3_version_type_18":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"兼子, 直"}],"nameIdentifiers":[{"nameIdentifier":"9351","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"岡田, 元宏"}],"nameIdentifiers":[{"nameIdentifier":"9368","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"朱, 剛"}],"nameIdentifiers":[{"nameIdentifier":"9423","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"金井, 数明"}],"nameIdentifiers":[{"nameIdentifier":"9412","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-03-13"}],"displaytype":"detail","filename":"tenkanchiryo_16_91.pdf","filesize":[{"value":"594.2 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