{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:11:27Z","timestamp":1777803087738,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2007,12,13]],"date-time":"2007-12-13T00:00:00Z","timestamp":1197504000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:p>Lafora epilepsy is characterized by starch formation in brain and skin and is diagnosed by skin biopsy or mutation detection. It has variable ages of onset (6-19 years) and death (18-32 years) even with the same mutation, likely due to extramutational factors. The authors identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman. The authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset (14 years) and death (21 years). Biopsy, on the other hand, was not homogeneous (positive in 4\/5 patients) and is, therefore, less sensitive than mutation testing.<\/jats:p>","DOI":"10.1177\/0883073807309245","type":"journal-article","created":{"date-parts":[[2008,2,8]],"date-time":"2008-02-08T12:08:18Z","timestamp":1202472498000},"page":"240-242","source":"Crossref","is-referenced-by-count":10,"title":["Lafora Progressive Myoclonus Epilepsy: Disease Course Homogeneity in a Genetic Isolate"],"prefix":"10.1177","volume":"23","author":[{"given":"Julie","family":"Turnbull","sequence":"first","affiliation":[{"name":"Program in Genetics and Genome Biology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Santosh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Royal Hospital, Muscat, Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi-Ping","family":"Ren","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanmugakonar","family":"Muralitharan","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Sultan Qaboos University Hospital, Muscat, Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taline","family":"Naranian","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cameron A.","family":"Ackerley","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[{"name":"Division of Neurology, The Hospital for Sick Children, Toronto, Canada,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,12,13]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02863929"},{"key":"atypb2","unstructured":"Van Heycop Ten Ham M. Lafora disease, a form of progressive myoclonus epilepsy. In: Vinken PJ, Bruyn GW, eds. The Epilepsies; Handbook of clinical neurology . 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