{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:29:11Z","timestamp":1761647351707},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5270,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Juvenile myoclonic epilepsy (JME) is a generalized, non\u2010progressive epilepsy characterized by an adolescent onset of sudden, involuntary myoclonic jerks. Greenberg et al. (<jats:italic>American Journal of Medical Genetics<\/jats:italic> 31:185\u2013192, 1988b; <jats:italic>Cytogenetics and Cell Genetics<\/jats:italic> 51:1008, 1989b) reported tight linkage of a JME locus to the HLA region of chromosome 6p. We confirm this linkage assignment, although at a larger recombination fraction than previously reported.<\/jats:p><jats:p>Twenty\u2010three, mostly nuclear, families were ascertained through a JME proband. The affected status of relatives of the probands was assigned by 4 different clinical criteria, and separate analyses were done assuming an autosomal dominant model with 90% penetrance and an autosomal recessive model with full penetrance. A linear age\u2010of\u2010onset correction with maximum penetrance at age 20 years was incorporated into the analyses. The maximum lod score obtained was 3.11 at \u0398<jats:sub>m<\/jats:sub> = 0.001, \u0398<jats:sub>f<\/jats:sub> = 0.20, assuming autosomal dominant inheritance and using the second definition of the disease phenotype. There was strong support for linkage using the other phenotype definitions and the autosomal dominant model, although the lod scores did not exceed 3.0. There was also support for linkage of a JME locus to this region under the autosomal recessive model, although the results varied depending upon the definition of the disease phenotype. There was no significant evidence for linkage heterogeneity.<\/jats:p>","DOI":"10.1002\/ajmg.1320380109","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:04:39Z","timestamp":1118549079000},"page":"32-36","source":"Crossref","is-referenced-by-count":123,"title":["Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6"],"prefix":"10.1002","volume":"38","author":[{"given":"K. A.","family":"Weissbecker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Durner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Janz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Scaramelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. S.","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Spence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.3.285"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-95553-2_20"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370050204"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-95553-2_8"},{"key":"e_1_2_1_6_1","first-page":"1008","article-title":"Strengthened evidence for linkage of juvenile myoclonic epilepsy to HLA and BF. Human Gene Mapping Workshop 10","volume":"51","author":"Greenberg DA","year":"1989","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310125"},{"key":"e_1_2_1_8_1","first-page":"623","article-title":"A locus involved in the expression of juvenile myoclonic epilepsy and of an associated EEG trait may be linked to HLA and BF. Human Gene Mapping Workshop 9","volume":"46","author":"Greenberg DA","year":"1988","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370010203"},{"key":"e_1_2_1_10_1","first-page":"1139","article-title":"The search for heterogeneity in insulin\u2010dependent diabetes mellitus (IDDM): Linkage studies, two\u2010locus models, and genetic heterogeneity","volume":"35","author":"Hodge SE","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"761","article-title":"Age\u2010of\u2010onset correction available for linkage analysis (LIPED)","volume":"31","author":"Hodge SE","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1985.tb00900.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.3949\/ccjm.56.s1.23"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-95553-2_7"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132472"},{"key":"e_1_2_1_16_1","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott J","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1978.tb00933.x"},{"key":"e_1_2_1_18_1","first-page":"84","volume-title":"HLA and Disease","author":"Thomson G","year":"1977"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282192"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380109","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T03:24:50Z","timestamp":1698031490000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/ajmg.1320380109"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380109","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}