Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families

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dc.contributor.authorSalar, Seda
dc.contributor.authorYeni, Naz
dc.contributor.authorGunduz, Aysegul
dc.contributor.authorGuler, Ayse
dc.contributor.authorGokcay, Ahmet
dc.contributor.authorVelioglu, Sibel
dc.contributor.authorGundogdu, Asli
dc.contributor.authorCaglayan, S. Hande
dc.date.accessioned2019-10-27T21:44:33Z
dc.date.available2019-10-27T21:44:33Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractLafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82H) and EPM2A (p.V7A) and two recurrent NHLRC1 (p.D146N) and EPM2A (p.R241X) mutations were identified in six families. The delineation of causative mutations in patients provided early disease diagnosis for other family members and contributed to the knowledge of LD pathogenesis. (C) 2011 Elsevier B.V. All rights reserved.en_US
dc.description.sponsorshipBogazici UniversityBogazici University [07HB101]; TUBITAK (Turkish Scientific and Technological Research Council)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK)en_US
dc.description.sponsorshipThis study was financially supported by Bogazici University Research Fund Project Number 07HB101. SS was a recipient of TUBITAK (Turkish Scientific and Technological Research Council) graduate scholarship.en_US
dc.identifier.doi10.1016/j.eplepsyres.2011.09.020en_US
dc.identifier.endpage276en_US
dc.identifier.issn0920-1211
dc.identifier.issue02.Maren_US
dc.identifier.pmid22047982en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage273en_US
dc.identifier.urihttps://doi.org/10.1016/j.eplepsyres.2011.09.020
dc.identifier.urihttps://hdl.handle.net/11454/47261
dc.identifier.volume98en_US
dc.identifier.wosWOS:000301316200027en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofEpilepsy Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLafora diseaseen_US
dc.subjectMutationsen_US
dc.subjectEPM2Aen_US
dc.subjectNHLRC1 (EPM2B)en_US
dc.subjectMalinen_US
dc.subjectLaforinen_US
dc.titleFour novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish familiesen_US
dc.typeArticleen_US

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