{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T18:59:15Z","timestamp":1789498755728,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","issue":"s2","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Progressive myoclonic epilepsy associated with <jats:italic>KCTD7<\/jats:italic> mutations has been reported in 19 patients from 12 families. Patients show homozygous mutations in the coding regions of the <jats:italic>KCTD7<\/jats:italic> gene. The disease starts in infancy. Patients typically show an initial severe epileptic disorder, with abundant epileptiform discharges on EEG and myoclonic seizures in the foreground, associated with cognitive regression and ataxia. Continuous multifocal myoclonus aggravated by action is observed in more than half of the cases. After a few years, the disease tends to stabilize and long survival can be expected. Some patients remain able to walk independently. The severity of the disease is variable from one patient to another, even within the same family. It is hypothesized that the epileptic disorder may influence the neurological regression observed in patients.<\/jats:p>","DOI":"10.1684\/epd.2016.0856","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":32,"title":["KCTD7\u2010related progressive myoclonus epilepsy"],"prefix":"10.1002","volume":"18","author":[{"given":"Patrick","family":"Van Bogaert","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Universit\u00e9 Libre de Bruxelles, H\u00f4pital Erasme  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-011-8194-0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6545-z"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12730"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100859"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2012.00710.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03516.x"},{"issue":"2","key":"e_1_2_6_9_1","first-page":"S1\u2010158","article-title":"Progressive Myoclonus Epilepsies: State\u2010of\u2010the\u2010Art","volume":"18","author":"Minassian BA","year":"2016","journal-title":"Epileptic Disord"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.023"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2005-6-10-r82"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21121"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:10:37Z","timestamp":1710778237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":11,"journal-issue":{"issue":"s2","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1684\/epd.2016.0856"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0856","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9]]}}}