{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:19:16Z","timestamp":1763036356921,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,7]]},"abstract":"<jats:p>Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420. This study for linkage of markers from the candidate gene region was performed in a previously unpublished family affected with Lafora disease. EEG and skin biopsy evaluation for Lafora bodies were performed on five of eight family members followed for seizure activity. Haplotype and linkage analysis of DNA from five family members were carried out using the nine dinucleotide repeat markers reported in the common region of homozygosity by Serratosa et al in 1995. The present study of an additional family affected by Lafora disease has narrowed the 17 cM critical region for the Lafora disease gene on chromosome 6q24 to a 4 cM region flanked by markers D6S308 and D6S311.<\/jats:p>","DOI":"10.1136\/jmg.34.7.590","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"590-591","source":"Crossref","is-referenced-by-count":6,"title":["Identification of a recombination event narrowing the Lafora disease gene region."],"prefix":"10.1136","volume":"34","author":[{"given":"L O","family":"Maddox","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Descartes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Keating","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Kuzniecky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,7,1]]},"reference":[{"key":"ref_1","first-page":"154550","article-title":"Linkage studies in progressive myoclonus epilepsy: UnverrichtLundborg and Lafora's diseases","volume":"42","author":"Lehesjoki, A.E.; Koskiniemi, M.; Pandolfo, M.","year":"1992","unstructured":"Lehesjoki AE, Koskiniemi M, Pandolfo M, et al. Linkage studies in progressive myoclonus epilepsy: UnverrichtLundborg and Lafora's diseases. Neurology 1992;42:154550.","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/ana.410210613","article-title":"Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease","volume":"21","author":"Busard, H.L.S.M.; Gabreels-Festen, A.A.; Renier, W.O.; Gabreels, F.J.M.; Stadhouders, A.M.","year":"1987","unstructured":"Busard HLSM, Gabreels-Festen AA, Renier WO, Gabreels FJM, Stadhouders AM. Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease. Ann Neurol 1987;21: 599-601.","journal-title":"Ann Neurol"},{"key":"ref_3","first-page":"15648","article-title":"Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy","volume":"31","author":"Carpenter, S.; Karpati, G.","year":"1981","unstructured":"Carpenter S, Karpati G. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology 1981;31:15648.","journal-title":"Neurology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1212\/WNL.20.2.160","article-title":"Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea","volume":"20","author":"Sakai, M.; Austin, J.; Witmer, F.; Trueb, L.","year":"1970","unstructured":"Sakai M, Austin J, Witmer F, Trueb L. Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea. Neurology 1970;20: 160-76.","journal-title":"Neurology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1001\/archneur.1968.00480010033002","article-title":"Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases","volume":"19","author":"Yokoi, S.; Austin, J.; Witmer, F.; Sakai, M.","year":"1968","unstructured":"Yokoi S, Austin J, Witmer F, Sakai M. Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases. Arch Neurol 1968;19: 15-33.","journal-title":"Arch Neurol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1093\/hmg\/4.9.1657","article-title":"The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q","volume":"4","author":"Serratosa, J.M.; Delgado-Escueta, A.V.; Posada, I.","year":"1995","unstructured":"Serratosa JM, Delgado-Escueta AV, Posada I, et al. The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum Mol Genet 1995;4:1657-63.","journal-title":"Hum Mol Genet"},{"key":"ref_7","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1994","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1994;81:3443-6."},{"key":"ref_8","first-page":"246","article-title":"The 1993-1994 Genethon human genetic linkage map","volume":"7","author":"Gyapay, G.; Morisette, J.; Vignal, A.","year":"1994","unstructured":"Gyapay G, Morisette J, Vignal A, et al. The 1993-1994 Genethon human genetic linkage map. Nat Genet 1994;7: 246-339.","journal-title":"Nat Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.7.590","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:38:59Z","timestamp":1760726339000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.7.590"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,7]]},"references-count":8,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1997,7,1]]},"published-print":{"date-parts":[[1997,7]]}},"alternative-id":["10.1136\/jmg.34.7.590"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.7.590","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1997,7]]}}}