{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T16:56:14Z","timestamp":1758473774934},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,3,19]],"date-time":"2015-03-19T00:00:00Z","timestamp":1426723200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Education, Science and Technological Development, Serbia","award":["173016"],"award-info":[{"award-number":["173016"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,1]]},"abstract":"Lafora disease (LD<\/jats:styled-content>) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline and poor prognosis. LD<\/jats:styled-content> is caused by mutations either in the EPM2A<\/jats:styled-content><\/jats:italic> or in NHLRC1<\/jats:styled-content><\/jats:italic> genes. Here we report clinical and genetic findings on 14 LD<\/jats:styled-content> patients from 10 families of Serbian\/Montenegrin origin. Molecular diagnostics was performed by sequencing the coding regions of the EPM2A<\/jats:styled-content><\/jats:italic> and NHLRC1<\/jats:styled-content><\/jats:italic> genes. In addition, haplotype analysis of the chromosomes carrying the two most frequent mutations (c.1048\u20101049delGA<\/jats:styled-content> and deletion of the whole NHLRC1<\/jats:styled-content><\/jats:italic> gene) using eight different markers flanking the NHLRC1<\/jats:styled-content><\/jats:italic> gene was conducted. We identified one new mutation (c.1028T<\/jats:styled-content>>C) along with the 3 previously reported mutations (c.1048\u20101049delGA<\/jats:styled-content>, c.990delG<\/jats:styled-content>, deletion of the whole NHLRC1<\/jats:styled-content><\/jats:italic> gene), all of which were located on the NHLRC1<\/jats:styled-content><\/jats:italic> gene. The two predominant mutations (c.1048\u20101049delGA<\/jats:styled-content> and complete NHLRC1<\/jats:styled-content><\/jats:italic> gene deletion) appear to be founder mutations. In addition to documenting the genetic heterogeneity observed for LD<\/jats:styled-content>, our study suggests that mutations in the NHLRC1<\/jats:styled-content><\/jats:italic> gene may be a common cause of LD<\/jats:styled-content> in the Serbian\/Montenegrin population, primarily because of a founder effect.<\/jats:p>","DOI":"10.1111\/cge.12570","type":"journal-article","created":{"date-parts":[[2015,2,16]],"date-time":"2015-02-16T05:52:43Z","timestamp":1424065963000},"page":"104-108","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and genetic data on Lafora disease patients of Serbian\/Montenegrin origin"],"prefix":"10.1111","volume":"89","author":[{"given":"M.","family":"Kecmanovi\u0107","sequence":"first","affiliation":[{"name":"Center for Human Molecular Genetics, Faculty of Biology University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Jovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Keckarevi\u0107\u2010Markovi\u0107","sequence":"additional","affiliation":[{"name":"Center for Human Molecular Genetics, Faculty of Biology University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Keckarevi\u0107","sequence":"additional","affiliation":[{"name":"Center for Human Molecular Genetics, Faculty of Biology University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Stevanovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Ignjatovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Romac","sequence":"additional","affiliation":[{"name":"Center for Human Molecular Genetics, Faculty of Biology University of Belgrade Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,19]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"47","volume-title":"Myoclonic Epilepsies: Advances in Neurology","author":"Chan 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