{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T11:46:39Z","timestamp":1698493599657},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2717,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mediterranean myoclonus is a progressive myoclonus epilepsy with autosomal recessive inheritance. Anothe form has been described in Finland, the so\u2010called Baltic myoclonus. Mediterranean myoclonus and Baltic myoclonus are also known as Unverricht\u2010Lundborg disease. Linkage analyses have shown that the genes for both these forms of myoclonus are closely linked to 21q22.3 DNA markers, suggesting that they are caused by mutations at the same locus (EPM1). Recently, two heterozygous mutations were found in the cystatin B gene in patients with Unverricht\u2010Lundborg disease. We report recombinational and linkage disequilibrium mapping of EPM1, and cystatin B gene sequencing, in 14 consanguineous pedigrees with Mediterranean myoclonus. Linkage to 21q22.3 DNA markers was observed in all these families. Haplotype analysis suggests that a common mutation segregates within these pedigrees, and that this mutation is different from the common one responsible for the Finnish form of Unverricht\u2010Lundborg disease. No mutation was found in the exons or splice junctions of the cystatin B gene in the 14 pedigrees.<\/jats:p>","DOI":"10.1002\/ana.410410520","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:59:32Z","timestamp":1104591572000},"page":"686-689","source":"Crossref","is-referenced-by-count":5,"title":["Allelic heterogeneity of mediterranean myoclonus and the cystatin B gene"],"prefix":"10.1002","volume":"41","author":[{"given":"Pierre","family":"Labauge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00c9Da","family":"Ouazzani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amel","family":"M'Rabet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Djamel","family":"Grid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Genton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Dravet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taieb","family":"Chkili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrine","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Buresi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Baldy\u2010Moulinier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Malafosse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"issue":"3","key":"e_1_2_1_2_2","first-page":"S19","article-title":"Progressive myoclonus epilepsies: clinical and genetic aspects","volume":"34","author":"Berkovic SF","year":"1993","journal-title":"Epilepsia"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1990.tb00924.x"},{"key":"e_1_2_1_4_2","first-page":"57","article-title":"Baltic myoclonus","volume":"43","author":"Koskiniemi ML","year":"1986","journal-title":"Adv Neurol"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)90749-3"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.9.3696"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90667-R"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.8.1229"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5256.1731"},{"key":"e_1_2_1_10_2","volume-title":"Molecular cloning","author":"Sambrook J","year":"1989"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.20.9882"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00217460"},{"key":"e_1_2_1_13_2","first-page":"699","article-title":"Restriction fragment length polymorphic probes in the analysis of Down's syndrome","volume":"40","author":"Millington\u2010Ward A","year":"1985","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1990.tb08137.x"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.9.2517"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90406-5"},{"key":"e_1_2_1_17_2","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop GM","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.709"},{"key":"e_1_2_1_19_2","first-page":"A267","article-title":"Identification of mutations in cystatin B, the gene responsible for progressive myoclonus epilepsy (EPM1)","volume":"59","author":"Lalioti MD","year":"1996","journal-title":"Am J Hum Genet"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410410520","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410410520","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T11:26:47Z","timestamp":1698492407000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410410520"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1997,5]]}},"alternative-id":["10.1002\/ana.410410520"],"URL":"https:\/\/doi.org\/10.1002\/ana.410410520","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,5]]}}}