{"_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"}, "item_5_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "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": "\u6284\u9332", "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\u2009+\u20091\u2009G\u2009\u003e\u2009A, chrX: 25025227\u2009C\u2009\u003e\u2009T (GRCh37). To our knowledge, this mutation has not been reported previously.", "subitem_description_type": "Abstract"}]}, "item_5_publisher_27": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "publisher"}]}, "item_5_relation_10": {"attribute_name": "PubMed\u756a\u53f7", "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": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\u00a9 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\u2019s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article\u2019s 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": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "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": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u5927\u6238, \u9054\u4e4b"}, {"creatorName": "\u30aa\u30aa\u30c8, \u30bf\u30c4\u30e6\u30ad", "creatorNameLang": "ja-Kana"}, {"creatorName": "OHTO, Tatsuyuki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "204063", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "60344892", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://nrid.nii.ac.jp/ja/nrid/1000060344892"}, {"nameIdentifier": "0000001892", "nameIdentifierScheme": "\u7b51\u6ce2\u5927\u5b66\u7814\u7a76\u8005\u7dcf\u89a7", "nameIdentifierURI": "http://trios.tsukuba.ac.jp/researcher/0000001892"}]}, {"creatorNames": [{"creatorName": "\u798f\u5cf6, \u7d18\u5b50"}, {"creatorName": "\u30d5\u30af\u30b7\u30de, \u30d2\u30ed\u30b3", "creatorNameLang": "ja-Kana"}, {"creatorName": "FUKUSHIMA, Hiroko", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "204746", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "30624986", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://nrid.nii.ac.jp/ja/nrid/1000030624986"}, {"nameIdentifier": "0000003310", "nameIdentifierScheme": "\u7b51\u6ce2\u5927\u5b66\u7814\u7a76\u8005\u7dcf\u89a7", "nameIdentifierURI": "http://trios.tsukuba.ac.jp/researcher/0000003310"}]}, {"creatorNames": [{"creatorName": "Takeshita, Yohei", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222672", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Enokizono, Takashi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222673", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tanaka, Mai", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222674", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Suzuki, Hisato", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222675", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Uehara, Tomoko", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222676", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takenouchi, Toshiki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222677", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kosaki, Kenjiro", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222678", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takada, Hidetoshi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "222679", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-09-17"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "HGV_7-9.pdf", "filesize": [{"value": "511.2 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_6", "mimetype": "application/pdf", "size": 511200.0, "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": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "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": "\u30bf\u30a4\u30c8\u30eb", "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": ["2780/1491", "2780/5860", "3/62/5590/7892"], "permalink_uri": "http://hdl.handle.net/2241/00161392", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_name_i18n": "\u516c\u958b\u65e5", "attribute_value": "2020-09-17"}, "publish_date": "2020-09-17", "publish_status": "0", "recid": "55988", "relation": {}, "relation_version_is_last": true, "title": ["Novel ARX mutation identified in infantile spasm syndrome patient"], "weko_shared_id": 5}