Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families
Makaleler > Tam Makale · 2012
Yazarlar: Seda Salar, Naz Yeni, Aysegul Gunduz, Ayşe GÜLER, Ahmet GÖKÇAY, SİBEL VELİOĞLU, Asli Gundogdu, S. Hande Caglayan
EPILEPSY RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2012, cilt 98, ss 273-276
DOI: 10.1016/j.eplepsyres.2011.09.020
Özet
Lafora 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.