{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T09:42:25Z","timestamp":1790329345690,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,6,6]],"date-time":"2021-06-06T00:00:00Z","timestamp":1622937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the\n                    <jats:italic>SEMA6B<\/jats:italic>\n                    gene. Truncating DNA variants located in the last exon of\n                    <jats:italic>SEMA6B<\/jats:italic>\n                    have recently been identified as a cause of autosomal dominant progressive myoclonus epilepsy. In many cases, myoclonus in the context of progressive myoclonic epilepsy is refractory to medical treatment. In the present case, treatment with zonisamide caused clinical improvement, particularly of positive and negative truncal myoclonus, considerably improving patient\u2019s gait and thus mobility.\n                  <\/jats:p>","DOI":"10.1002\/acn3.51403","type":"journal-article","created":{"date-parts":[[2021,6,6]],"date-time":"2021-06-06T12:11:02Z","timestamp":1622981462000},"page":"1524-1527","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Zonisamide\u2010responsive myoclonus in SEMA6B\u2010associated progressive myoclonic epilepsy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5906-5947","authenticated-orcid":false,"given":"Rebecca","family":"Herzog","sequence":"first","affiliation":[{"name":"Institute of Systems Motor Science University L\u00fcbeck L\u00fcbeck Germany"},{"name":"Department of Neurology University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yorck","family":"Hellenbroich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5969-6899","authenticated-orcid":false,"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[{"name":"Department of Neurology University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Center of Brain, Behavior and Metabolism (CBBM) University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5121-1460","authenticated-orcid":false,"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Grimmel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"Centre for Rare Diseases University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"von Spiczak","sequence":"additional","affiliation":[{"name":"DRK\u2010Northern German Epilepsy Center Schwentinental\u2010Raisdorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3219-2284","authenticated-orcid":false,"given":"Alexander","family":"M\u00fcnchau","sequence":"additional","affiliation":[{"name":"Institute of Systems Motor Science University L\u00fcbeck L\u00fcbeck Germany"},{"name":"Center of Brain, Behavior and Metabolism (CBBM) University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6525"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.02.011"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.03.013"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40272-019-00378-y"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1892-1"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.6.928"},{"key":"e_1_2_8_8_1","first-page":"431","article-title":"Potential efficacy of zonisamide in refractory juvenile myoclonic epilepsy: retrospective evidence from an Irish compassionate\u2010use case series","volume":"100","author":"O'Rourke D","year":"2007","journal-title":"Ir Med 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