{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T03:48:23Z","timestamp":1790999303468,"version":"4.1.0"},"reference-count":25,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2003,9]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar disintegration. It causes severe seizures, leading to dementia and eventually death in early adulthood.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> One Lafora disease gene, <jats:italic>EPM2A<\/jats:italic>, has been identified on chromosome 6q24. Locus heterogeneity led us to search for a second gene using a genome wide linkage scan in French-Canadian families.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> We mapped a second Lafora disease locus, <jats:italic>EPM2B<\/jats:italic>, to a 2.2 Mb region at 6p22, a region known to code for several proteins, including kinesins. Kinesins are microtubule dependent motor proteins that are involved in transporting cellular components. In neurones, they play a major role in axonal and dendritic transport.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> Analysis of the present locus in other non-<jats:italic>EPM2A<\/jats:italic> families will reveal whether there is further locus heterogeneity. Identification of the disease gene will be of major importance towards our understanding of the pathogenesis of Lafora disease.<\/jats:p>","DOI":"10.1136\/jmg.40.9.671","type":"journal-article","created":{"date-parts":[[2003,9,5]],"date-time":"2003-09-05T23:18:21Z","timestamp":1062803901000},"page":"671-675","source":"Crossref","is-referenced-by-count":76,"title":["Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (<i>EPM2B<\/i>) on 6p22"],"prefix":"10.1136","volume":"40","author":[{"given":"E M","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D E","family":"Bulman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A D","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G A","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A V","family":"Delgado-Escueta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S W","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B A","family":"Minassian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2003,9,5]]},"reference":[{"key":"2025101721501389000_40.9.671.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF02863929","volume":"6","year":"1911","journal-title":"Z Ges Neurol Psychiat"},{"key":"2025101721501389000_40.9.671.2","first-page":"199","volume":"89","year":"2002","journal-title":"Adv Neurol"},{"key":"2025101721501389000_40.9.671.3","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.20.2.160"},{"key":"2025101721501389000_40.9.671.4","first-page":"239","volume":"86","year":"1968","journal-title":"Arch Pathol"},{"key":"2025101721501389000_40.9.671.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-0173(99)00003-X"},{"key":"2025101721501389000_40.9.671.6","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(92)90170-D"},{"key":"2025101721501389000_40.9.671.7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.11.1251"},{"key":"2025101721501389000_40.9.671.8","doi-asserted-by":"publisher","DOI":"10.1038\/2470"},{"key":"2025101721501389000_40.9.671.9","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.hmg.a018916"},{"key":"2025101721501389000_40.9.671.10","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(20010201)49:2<271::AID-ANA52>3.0.CO;2-D"},{"key":"2025101721501389000_40.9.671.11","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1212\/WNL.55.3.341","volume":"55","year":"2000","journal-title":"Neurology"},{"key":"2025101721501389000_40.9.671.12","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C100686200"},{"key":"2025101721501389000_40.9.671.13","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9"},{"key":"2025101721501389000_40.9.671.14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"2025101721501389000_40.9.671.15","doi-asserted-by":"publisher","DOI":"10.1159\/000154222"},{"key":"2025101721501389000_40.9.671.16","first-page":"252","volume":"53","year":"1993","journal-title":"Am J Hum Genet"},{"key":"2025101721501389000_40.9.671.17","unstructured":"Terwilliger JD, Ott J. 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