{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:54:52Z","timestamp":1782258892300,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,6,16]],"date-time":"2016-06-16T00:00:00Z","timestamp":1466035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000852","name":"Henry Smith Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000852","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["G1000902"],"award-info":[{"award-number":["G1000902"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2017,3]]},"abstract":"Abstract<\/jats:title>View Supplementary Video 1<\/jats:ext-link><\/jats:p>View Supplementary Video 2<\/jats:ext-link><\/jats:p>We report on a white Afrikaans family from eastern South Africa with three members affected with North Sea progressive myoclonus epilepsy, resulting from a homozygous founder GOSR<\/jats:styled-content>2<\/jats:italic> mutation (c.430G>T, p.Gly144Trp). The mutation was identified by exomic sequencing in a research study investigating childhood onset ataxias. All three subjects presented with ataxia, tremor, early gait difficulties, and myoclonic and generalized tonic clonic (GTC<\/jats:styled-content>) epilepsy. Each patient underwent deep brain stimulation of the caudal Zona Incerta before coming to the attention of the authors. In each case there was a reduction in GTC<\/jats:styled-content> seizures, and two patients exhibited a reduction in involuntary movements, as evaluated during long\u2010term follow\u2010up. In one case there was an improvement in gait and stance when assessed while the stimulation was on.<\/jats:p>","DOI":"10.1002\/mdc3.12372","type":"journal-article","created":{"date-parts":[[2016,6,16]],"date-time":"2016-06-16T04:39:07Z","timestamp":1466051947000},"page":"249-253","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa"],"prefix":"10.1002","volume":"4","author":[{"given":"David G.","family":"Anderson","sequence":"first","affiliation":[{"name":"Department of Neurology University of the Witwatersrand Donald Gordon Medical Centre Johannesburg South Africa"},{"name":"Division of Human Genetics School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea 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