{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:19:49Z","timestamp":1761016789756,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,1]]},"abstract":"<jats:p>The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. We have examined CAG repeat expansion in the DRPLA gene in five BAFME families, and the abnormal CAG expansion was not observed in the affected subjects. Linkage analysis using DNA polymorphisms in the DRPLA gene and the genes for gamma-aminobutyric acid (GABA) receptor subunits, GABAR beta 1, GABAR beta 3, and GABAR alpha 6, showed that these genes were not responsible for BAFME.<\/jats:p>","DOI":"10.1136\/jmg.33.1.80","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"80-81","source":"Crossref","is-referenced-by-count":15,"title":["Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene."],"prefix":"10.1136","volume":"33","author":[{"given":"A","family":"Kuwano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Takakubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Morimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Uyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Uchino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Ando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Yasuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Terao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Hayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,1,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Benign adult familial mvoclonus epilepsy (BAFME)","volume":"17","author":"Yasuda, T.","year":"1991","unstructured":"Yasuda T. Benign adult familial mvoclonus epilepsy (BAFME). KazvasakiMed_] 1991;17:1-13.","journal-title":"KazvasakiMed_]"},{"key":"ref_2","first-page":"699","article-title":"Anticipation in hereditary dentatorubral-pallidoluysian atrophy","author":"Sano, A.; Yamauchi, N.; Kakimoto, Y.","year":"1994","unstructured":"Sano A, Yamauchi N, Kakimoto Y, et al. Anticipation in hereditary dentatorubral-pallidoluysian atrophy. Hum Geniet 1994,93:699-702.","journal-title":"Hum Geniet"},{"key":"ref_3","first-page":"9013","article-title":"Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)","volume":"6","author":"true","year":"1994","unstructured":"Koide R, Onodera 0, Tanaka H, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Natutre Genet 1994;6:9013.","journal-title":"Natutre Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/ng1094-177","article-title":"Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)","volume":"8","author":"Nagafuchi, S.; Yanagisawa, H.; Osaki, E.","year":"1994","unstructured":"Nagafuchi S, Yanagisawa H, Osaki E, et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nature Genet 1994;8:177-82.","journal-title":"Nature Genet"},{"key":"ref_5","first-page":"330","article-title":"Localization of the gene encoding the GABA(A) receptor beta-3 subunit to the Angelman\/Prader-Willi region of chromosome","volume":"49","author":"Wastff, J.; Knoll, J.H.M.; Fleming, J.","year":"1991","unstructured":"Wastff J, Knoll JHM, Fleming J, et al. Localization of the gene encoding the GABA(A) receptor beta-3 subunit to the Angelman\/Prader-Willi region of chromosome 15. Am 7 Hunm Genet 1991;49:330-7.","journal-title":"15. Am 7 Hunm Genet"},{"key":"ref_6","first-page":"285","article-title":"Further evidence for clustering of human GABAA receptor subunit genes: location of the y6-subunit gene (GABRy6) to distal chromosome 5q by linkage analysis","volume":"20","author":"Hicks, A.A.; Ballev, M.E.S.; Rilev, B.P.","year":"1994","unstructured":"Hicks AA, Ballev MES, Rilev BP, et al. Further evidence for clustering of human GABAA receptor subunit genes: location of the y6-subunit gene (GABRy6) to distal chromosome 5q by linkage analysis. Geizonoics 1994;20: 285-8.","journal-title":"Geizonoics"},{"key":"ref_7","first-page":"165","article-title":"Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients","volume":"41","author":"Durner, M.; Sander, T.; Greenberg, D.A.; Johnson, K.; Beck-Mannagetta, G.; Janz, D.","year":"1991","unstructured":"Durner M, Sander T, Greenberg DA, Johnson K, Beck-Mannagetta G, Janz D. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. NeiirologD, 1991;41:165 1-5.","journal-title":"NeiirologD"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1093\/hmg\/2.8.1229","article-title":"Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping","volume":"2","author":"Lehesjoki, A.E.; Koskiniemi, M.; Norio, R.","year":"1993","unstructured":"Lehesjoki AE, Koskiniemi M, Norio R, et al. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 1993;2:1229-34.","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.1.80","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:02:42Z","timestamp":1760734962000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.1.80"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,1]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1996,1,1]]},"published-print":{"date-parts":[[1996,1]]}},"alternative-id":["10.1136\/jmg.33.1.80"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.1.80","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,1]]}}}