Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
Epilepsy Res. 2012 Feb;98(2-3):273-6. doi: 10.1016/j.eplepsyres.2011.09.020. Epub 2011 Nov 1.
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.
拉佛拉病（LD）是一种常染色体隐性、进行性肌阵挛性癫痫，主要由 EPM2A 和 NHLRC1 基因突变引起。在这两个基因中进行突变分析的目的是在土耳其建立 LD 的 DNA 诊断。在六个家庭中发现了四个新的 NHLRC1（p.G131X、p.P69S 和 p.D82H）和 EPM2A（p.V7A）突变以及两个复发的 NHLRC1（p.D146N）和 EPM2A（p.R241X）突变。在患者中明确致病突变可以为其他家庭成员提供早期疾病诊断，并有助于了解 LD 的发病机制。
