{"created":"2024-12-12T10:01:36.920212+00:00","id":2011216,"links":{},"metadata":{"_buckets":{"deposit":"ca1ed473-84b4-4b14-9cb9-1ace4d503aa9"},"_deposit":{"created_by":7,"id":"2011216","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2011216"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02011216","sets":["1713853213384:1713853295607"]},"author_link":["796","190"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-03-23","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"7","bibliographicPageEnd":"400","bibliographicPageStart":"395","bibliographicVolumeNumber":"45","bibliographic_titles":[{"bibliographic_title":"Brain and Development","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Introduction\nEpilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.\nCase presentation\nThe patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.\nConclusion\nThe SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"The Japanese Society of Child Neurology","subitem_publisher_language":"en"},{"subitem_publisher":"Elsevier","subitem_publisher_language":"en"}]},"item_10001_rights_15":{"attribute_name":"権利情報","attribute_value_mlt":[{"subitem_rights":"© 2023. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/","subitem_rights_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"03877604","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"18727131","subitem_source_identifier_type":"ISSN"},{"subitem_source_identifier":"AA00111153","subitem_source_identifier_type":"NCID"},{"subitem_source_identifier":"AA11521714","subitem_source_identifier_type":"NCID"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open 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彩","creatorNameLang":"ja"},{"creatorName":"ゴウジ, アヤ","creatorNameLang":"ja-Kana"},{"creatorName":"Goji, Aya","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"トダ, ヨシヒロ","creatorNameLang":"ja"},{"creatorName":"トダ, ヨシヒロ","creatorNameLang":"ja-Kana"},{"creatorName":"Toda, Yoshihiro","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"フジタ, アツシ","creatorNameLang":"ja"},{"creatorName":"フジタ, アツシ","creatorNameLang":"ja-Kana"},{"creatorName":"Fujita, Atsushi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"ミズグチ, タケシ","creatorNameLang":"ja"},{"creatorName":"ミズグチ, タケシ","creatorNameLang":"ja-Kana"},{"creatorName":"Mizuguchi, Takeshi","creatorNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"","affiliationNameIdentifierScheme":"ISNI","affiliationNameIdentifierURI":"http://www.isni.org/isni/"}],"affiliationNames":[{"affiliationName":"","affiliationNameLang":"ja"}]}],"creatorNames":[{"creatorName":"漆原, 真樹","creatorNameLang":"ja"},{"creatorName":"ウルシハラ, マキ","creatorNameLang":"ja-Kana"},{"creatorName":"Urushihara, Maki","creatorNameLang":"en"}],"familyNames":[{"familyName":"漆原","familyNameLang":"ja"},{"familyName":"ウルシハラ","familyNameLang":"ja-Kana"},{"familyName":"Urushihara","familyNameLang":"en"}],"givenNames":[{"givenName":"真樹","givenNameLang":"ja"},{"givenName":"マキ","givenNameLang":"ja-Kana"},{"givenName":"Maki","givenNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"190","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"121546/profile-ja.html","nameIdentifierScheme":"徳島大学 教育研究者総覧","nameIdentifierURI":"http://pub2.db.tokushima-u.ac.jp/ERD/person/121546/profile-ja.html"},{"nameIdentifier":"50403689","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://nrid.nii.ac.jp/ja/search/?qm=50403689"}]},{"creatorNames":[{"creatorName":"マツモト, ナオミチ","creatorNameLang":"ja"},{"creatorName":"マツモト, ナオミチ","creatorNameLang":"ja-Kana"},{"creatorName":"Matsumoto, Naomichi","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2024-03-23"}],"displaytype":"detail","filename":"braindev_45_7_395.pdf","filesize":[{"value":"2.34 MB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://tokushima-u.repo.nii.ac.jp/record/2011216/files/braindev_45_7_395.pdf"},"version_id":"10cdad3a-2f56-42c8-9b73-6f65bfa22126"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Epilepsy with myoclonic atonic seizures (EMAtS)","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"SLC6A1","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Balanced chromosomal translocation","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Long-read sequencing","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":"A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"7","path":["1713853295607"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2023-09-12"},"publish_date":"2023-09-12","publish_status":"0","recid":"2011216","relation_version_is_last":true,"title":["A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2025-01-29T11:22:02.940454+00:00"}