{"created":"2021-03-01T07:37:02.402844+00:00","id":55988,"links":{},"metadata":{"_buckets":{"deposit":"68129b0e-66e6-4703-8513-db3aedc71016"},"_deposit":{"id":"55988","owners":[],"pid":{"revision_id":0,"type":"depid","value":"55988"},"status":"published"},"_oai":{"id":"oai:tsukuba.repo.nii.ac.jp:00055988","sets":["2780:1491","2780:5860","3:62:5590:7892"]},"item_5_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-03","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"9","bibliographicVolumeNumber":"7","bibliographic_titles":[{},{"bibliographic_title":"Human Genome Variation","bibliographic_titleLang":"en"}]}]},"item_5_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the corpus callosum. Two-fold adrenocorticotropic hormone (ACTH) therapy failed to control the seizures, and ketogenic diet therapy and multi-antiepileptic drug therapy were required as he showed intractable daily tonic-clonic seizures. Exome sequencing identified a hemizygous mutation in the ARX gene, NG_008281.1(ARX_v001):c.1448 + 1 G > A, chrX: 25025227 C > T (GRCh37). To our knowledge, this mutation has not been reported previously.","subitem_description_type":"Abstract"}]},"item_5_publisher_27":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"publisher"}]},"item_5_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"32257294 ","subitem_relation_type_select":"PMID"}}]},"item_5_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1038/s41439-020-0094-2","subitem_relation_type_select":"DOI"}}]},"item_5_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© The Author(s) 2020"},{"subitem_rights":"This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any mediumor format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changesweremade. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/."}]},"item_5_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_5_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2054-345X","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"大戸, 達之"},{"creatorName":"オオト, タツユキ","creatorNameLang":"ja-Kana"},{"creatorName":"OHTO, Tatsuyuki","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"福島, 紘子"},{"creatorName":"フクシマ, ヒロコ","creatorNameLang":"ja-Kana"},{"creatorName":"FUKUSHIMA, Hiroko","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"Takeshita, Yohei","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Enokizono, Takashi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tanaka, Mai","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Suzuki, Hisato","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Uehara, Tomoko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takenouchi, Toshiki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kosaki, Kenjiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takada, Hidetoshi","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-09-17"}],"displaytype":"detail","filename":"HGV_7-9.pdf","filesize":[{"value":"511.2 kB"}],"format":"application/pdf","licensetype":"license_6","mimetype":"application/pdf","url":{"label":"HGV_7-9","url":"https://tsukuba.repo.nii.ac.jp/record/55988/files/HGV_7-9.pdf"},"version_id":"545d328b-d6cb-4d43-bb78-d7340475991d"}]},"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":"Novel ARX mutation identified in infantile spasm syndrome patient","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel ARX mutation identified in infantile spasm syndrome patient","subitem_title_language":"en"}]},"item_type_id":"5","owner":"1","path":["1491","5860","7892"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-09-17"},"publish_date":"2020-09-17","publish_status":"0","recid":"55988","relation_version_is_last":true,"title":["Novel ARX mutation identified in infantile spasm syndrome patient"],"weko_creator_id":"1","weko_shared_id":5},"updated":"2022-04-27T09:30:58.383016+00:00"}