{"created":"2023-06-19T10:43:22.403030+00:00","id":3601,"links":{},"metadata":{"_buckets":{"deposit":"43e596f5-aadc-4991-b7ca-7eb8983c2896"},"_deposit":{"created_by":11,"id":"3601","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"3601"},"status":"published"},"_oai":{"id":"oai:shiga-med.repo.nii.ac.jp:00003601","sets":["19:87:88","30:46:84"]},"author_link":["7965","7867","1939","7866","297","7964","7966"],"item_4_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-05","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"5","bibliographicPageEnd":"461","bibliographicPageStart":"456","bibliographicVolumeNumber":"43","bibliographic_titles":[{},{"bibliographic_title":"Pacing and clinical electrophysiology : PACE","bibliographic_titleLang":"en"}]}]},"item_4_creator_3":{"attribute_name":"著者別名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"園田, 桂子"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"大野, 聖子"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"中川, 義久"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"堀江, 稔"}],"nameIdentifiers":[{},{},{}]}]},"item_4_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background: \nShort-coupled variant of torsades de pointes (scTdP) is a disease characterized by TdP without QT prolongation, which is initiated by extremely short-coupled ventricular extra-systoles. Its genetic background remains rarely unveiled. ","subitem_description_type":"Abstract"},{"subitem_description":"Objective: \nWe aimed to identify genetic variations in patients with scTdP and to analyze the functional change of the mutant Na+ channel identified in a scTdP patient. ","subitem_description_type":"Abstract"},{"subitem_description":"Methods and results: \nWe performed genetic analysis for inherited arrhythmia-related 45 genes using next-generation sequencer (MiSeq, Illumina) among seven consecutive scTdP patients. We identified an SCN5A mutation R800H in a 38-year-old male who suffered ventricular fibrillation during dinner and was resuscitated. Two months later, he lost his consciousness at work. His Holter electrocardiogram showed scTdP. He had no family history of sudden cardiac death or heart disease. Functional analysis of the SCN5A-R800H channels showed a significantly shortened recovery time from inactivation. Peak sodium current densities in SCN5A-R800H were larger than those in wild type but the difference was not statistically significant. ","subitem_description_type":"Abstract"},{"subitem_description":"Conclusions: \nWe identified an SCN5A mutation in a scTdP patient and confirmed that the mutant channel caused the shortness of recovery time from inactivation. SCN5A might be a candidate gene for scTdP. ","subitem_description_type":"Abstract"}]},"item_4_description_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Journal Article","subitem_description_type":"Other"}]},"item_4_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"WIley"}]},"item_4_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"32323320","subitem_relation_type_select":"PMID"}}]},"item_4_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1111/pace.13924"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1111/pace.13924","subitem_relation_type_select":"DOI"}}]},"item_4_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2020 Wiley Periodicals, Inc."}]},"item_4_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1540-8159","subitem_source_identifier_type":"ISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"SONODA, Keiko"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"OHNO, Seiko"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"SHIMIZU, Yukiko"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"KAITANI, Kazuaki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"MAKIYAMA, Takeru"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"NAKAGAWA, Yoshihisa"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"HORIE, Minoru"}],"nameIdentifiers":[{},{},{}]}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"SCN5A","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"ScTdP","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"genetics","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"inherited arrhythmia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"ion channel","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes."}]},"item_type_id":"4","owner":"11","path":["84","88"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-06-17"},"publish_date":"2020-06-17","publish_status":"0","recid":"3601","relation_version_is_last":true,"title":["SCN5A mutation identified in a patient with short-coupled variant of torsades de pointes."],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2023-06-19T12:18:28.673997+00:00"}