{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T09:35:10Z","timestamp":1748511310575},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,26]],"date-time":"2016-11-26T00:00:00Z","timestamp":1480118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Unverricht\u2010Lundborg disease or progressive myoclonic epilepsy type 1 (<jats:styled-content style=\"fixed-case\">EPM<\/jats:styled-content>1) is an autosomal recessive disease caused by mutation of the cystatin B gene (<jats:styled-content style=\"fixed-case\">CSTB<\/jats:styled-content>), located on chromosome 21q22.3. The most common mutation is an expansion of unstable dodecamer repetition (<jats:styled-content style=\"fixed-case\">CCCCGCCCCGCG<\/jats:styled-content>), whereas other types of mutations are rare. Among these, heterozygous compound mutations are described to induce a more severe phenotype than that of homozygous dodecameric repetition. We report two siblings affected by heterozygous compound mutations carrying a novel mutation of the deletion of three nucleotides in exon 2 of the gene in position 132\u2013134 of the coding sequence (c.132\u2010134del) in the allele not including the dodecamer repetition. This mutation results in the loss of two amino acid residues and insertion of an asparagine in position 44 (p.Lys44_Ser45delinsAsn). Our patients presented a very different clinical picture. The male patient had a severe myoclonus, drug\u2010resistant epilepsy and psychiatric comorbidity, while his affected sister had only very rare seizures and sporadic myoclonic jerks at awakening. The revision of literature about heterozygous compound <jats:styled-content style=\"fixed-case\">EPM<\/jats:styled-content>1 patients confirms this gender phenotypic expressivity, with female patients carrying less severe symptoms than male patients. These data lead to the hypothesis of complex gender\u2010specific factors interacting with <jats:styled-content style=\"fixed-case\">CSTB<\/jats:styled-content> expressivity in <jats:styled-content style=\"fixed-case\">EPM<\/jats:styled-content>1 patients.<\/jats:p>","DOI":"10.1111\/epi.13626","type":"journal-article","created":{"date-parts":[[2016,11,26]],"date-time":"2016-11-26T06:32:39Z","timestamp":1480141959000},"source":"Crossref","is-referenced-by-count":12,"title":["A novel c132\u2010134del mutation in Unverricht\u2010Lundborg disease and the review of literature of heterozygous compound patients"],"prefix":"10.1111","volume":"58","author":[{"given":"Giovanni","family":"Assenza","sequence":"first","affiliation":[{"name":"Clinical Neurology Campus Biomedico University of Rome Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Benvenga","sequence":"additional","affiliation":[{"name":"Clinical Neurology Campus Biomedico University of Rome Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Gennaro","sequence":"additional","affiliation":[{"name":"Genetic Laboratory E.O. Ospedali Galliera Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Tombini","sequence":"additional","affiliation":[{"name":"Clinical Neurology Campus Biomedico University of Rome Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Campana","sequence":"additional","affiliation":[{"name":"Clinical Neurology Campus Biomedico University of Rome Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Assenza","sequence":"additional","affiliation":[{"name":"Clinical Neurology Campus Biomedico University of Rome Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Di Pino","sequence":"additional","affiliation":[{"name":"Clinical Neurology Campus Biomedico University of Rome Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Di Lazzaro","sequence":"additional","affiliation":[{"name":"Clinical Neurology Campus Biomedico University of Rome Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5256.1731"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201723"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01422.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000323470"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03718.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.12.1510"},{"key":"e_1_2_5_8_1","first-page":"420","article-title":"Mild case of unverricht\u2010lundborg disease mimicking juvenile myoclonic epilepsy in adulthood","volume":"14","author":"Andermann E","year":"2014","journal-title":"Epilepsy Curr"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12944"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.020"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.07.001"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.56902.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm002"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.13626","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.13626","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T02:31:14Z","timestamp":1696300274000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.13626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,26]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1111\/epi.13626"],"URL":"https:\/\/doi.org\/10.1111\/epi.13626","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,26]]}}}