{"created":"2024-12-12T01:16:32.503215+00:00","id":2009113,"links":{},"metadata":{"_buckets":{"deposit":"6275969c-314d-4c12-b527-ed64b1d4f993"},"_deposit":{"created_by":7,"id":"2009113","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"2009113"},"status":"published"},"_oai":{"id":"oai:tokushima-u.repo.nii.ac.jp:02009113","sets":["1713853213384:1713853295607"]},"author_link":["796","536","1564","530"],"item_10001_alternative_title_1":{"attribute_name":"タイトル別表記","attribute_value_mlt":[{"subitem_alternative_title":"ARID1B deletion in intractable epilepsy","subitem_alternative_title_language":"en"}]},"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"50","bibliographicPageStart":"45","bibliographicVolumeNumber":"13","bibliographic_titles":[{"bibliographic_title":"Epilepsy & Seizure","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Although epilepsy is a known complication in Coffin-Siris syndrome, its clinical symptoms and effective treatment methods have not been thoroughly investigated so far. Here, we present the case of a female with a 594-kb interstitial deletion at 6q25.3, involving partially ARID1B, with developmental delay, short stature, and intractable epilepsy. At 4 years of age, she developed epilepsy with clonic seizures in the right half of her body. Treatment with carbamazepine, levetiracetam, or topiramate was ineffective. The frequency of epileptic seizures gradually worsened. At the peak of her seizures, she had focal onset clonic seizures 3-4 times a month, and neck atonic seizures lasting for several seconds more than 10 times a day. After administration of sodium valproate, her epileptic seizures decreased to 0-1 times a year. In conclusion, gathering genetic information in Coffin-Siris syndrome allows improvement of epilepsy treatment and outcomes in these patients.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Japan Epilepsy Society","subitem_publisher_language":"en"}]},"item_10001_source_id_9":{"attribute_name":"収録物ID","attribute_value_mlt":[{"subitem_source_identifier":"18825567","subitem_source_identifier_type":"ISSN"}]},"item_10001_version_type_20":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_1715043197608":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open 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syndrome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"ARID1B","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"partial gene deletion","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"sodium valproate","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 partial ARID1B deletion in a female child with intractable epilepsy","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A partial ARID1B deletion in a female child with intractable 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