{"created":"2023-06-19T11:24:55.228942+00:00","id":5711,"links":{},"metadata":{"_buckets":{"deposit":"e84fa0a3-d89d-40ea-86ff-df199172d0d6"},"_deposit":{"created_by":1,"id":"5711","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"5711"},"status":"published"},"_oai":{"id":"oai:asahikawa-med.repo.nii.ac.jp:00005711","sets":["7","7:24"]},"author_link":["17884","17880","17883","17881","17882"],"item_5_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2014-06-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"8","bibliographicPageEnd":"10","bibliographicPageStart":"1","bibliographic_titles":[{"bibliographic_title":"Journal of Medical Case Reports"}]}]},"item_5_description_28":{"attribute_name":"識別番号 その他","attribute_value_mlt":[{"subitem_description":"PMID：24886244","subitem_description_type":"Other"}]},"item_5_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"INTRODUCTION:\n\\nParoxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis.\nCASE PRESENTATION:\n\\nWe describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C > G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely.\nCONCLUSIONS:\n\\nParoxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion.","subitem_description_type":"Abstract"}]},"item_5_description_36":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0)","subitem_description_type":"Other"}]},"item_5_description_37":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"text","subitem_description_type":"Other"}]},"item_5_description_41":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_5_relation_24":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1186/1752-1947-8-174.","subitem_relation_type_select":"DOI"}}]},"item_5_source_id_22":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1752-1947","subitem_source_identifier_type":"ISSN"}]},"item_5_text_44":{"attribute_name":"ID(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"27886244"}]},"item_5_text_54":{"attribute_name":"閲覧数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"537"}]},"item_5_text_55":{"attribute_name":"ダウンロード数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"585"}]},"item_5_text_7":{"attribute_name":"著者 ローマ字","attribute_value_mlt":[{"subitem_text_value":"Matsumoto, Naoya"},{"subitem_text_value":"Takahashi, Satoru"},{"subitem_text_value":"Okayama, Akie"},{"subitem_text_value":"Araki, Akiko"},{"subitem_text_value":"Azuma, Hiroshi"}]},"item_5_version_type_38":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"松本, 直也"},{"creatorName":"マツモト, ナオヤ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"17880","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"高橋, 悟"},{"creatorName":"タカハシ, サトル","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"17881","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"岡山, 亜貴恵"},{"creatorName":"オカヤマ, アキエ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"17882","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"荒木, 章子"},{"creatorName":"アラキ, アキコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"17883","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"東, 寛"},{"creatorName":"アズマ, ヒロシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"17884","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2021-07-06"}],"displaytype":"detail","filename":"6776.pdf","filesize":[{"value":"556.4 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"6776.pdf","url":"https://asahikawa-med.repo.nii.ac.jp/record/5711/files/6776.pdf"},"version_id":"7091e8f3-d6ec-49d1-8c81-ea151d371329"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Benign infantile convulsion","subitem_subject_scheme":"Other"},{"subitem_subject":"Mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"Paroxysmal kinesigenic dyskinesia","subitem_subject_scheme":"Other"},{"subitem_subject":"PRRT2","subitem_subject_scheme":"Other"},{"subitem_subject":"Seizures","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":"Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series."}]},"item_type_id":"5","owner":"1","path":["6","7","24"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-09-06"},"publish_date":"2017-09-06","publish_status":"0","recid":"5711","relation_version_is_last":true,"title":["Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series."],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-06-19T12:14:38.042468+00:00"}