{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T09:29:12Z","timestamp":1761989352770},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012628","name":"Japan Epilepsy Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012628","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME families. Clinical anticipation regarding either cortical tremor or generalised seizures was observed in all 12 parent\/child pairs (8 mother\/child pairs and 4 father\/child pairs). Moreover, a higher degree of clinical anticipation was associated with maternal transmission than with paternal transmission (<jats:italic>p<\/jats:italic>=0.03). Although a causative gene for BAFME still remains unknown, our finding suggests that BAFME and diseases with unstable expanding repeats, including those in non\u2010coding regions, might share a similar molecular mechanism because such diseases often show clinical anticipation with maternal transmission.<\/jats:p>","DOI":"10.1684\/epd.2013.0608","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:44Z","timestamp":1564752284000},"page":"428-432","source":"Crossref","is-referenced-by-count":16,"title":["Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan"],"prefix":"10.1002","volume":"15","author":[{"given":"Takefumi","family":"Hitomi","sequence":"first","affiliation":[{"name":"Department of Neurology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuya","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Neurology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoto","family":"Jingami","sequence":"additional","affiliation":[{"name":"Department of Neurology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomokazu","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Neurology Takeda General Hospital Kyoto"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisaji","family":"Imamura","sequence":"additional","affiliation":[{"name":"Department of Neurology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riki","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Movement disorders and Physiology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayuki","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Neurology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Chin","sequence":"additional","affiliation":[{"name":"Department of Respiratory Care and Sleep Control Medicine Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryosuke","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Ikeda","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Movement disorders and Physiology Kyoto University Graduate School of medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.10.1877"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e396a8"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23653"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03349.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20558"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370610"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0118-4"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/14734220510007914"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.6.1180"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.39903.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2005.00385.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01198.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120316"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20413"},{"key":"e_1_2_6_17_1","first-page":"1","article-title":"Benign adult familial myoclonic epilepsy (BAFME)","volume":"17","author":"Yasuda T","year":"1991","journal-title":"Kawasaki Med J"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10141"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2013.0608","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:18:56Z","timestamp":1710778736000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2013.0608"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1684\/epd.2013.0608"],"URL":"https:\/\/doi.org\/10.1684\/epd.2013.0608","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}