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

Epilepsy Res. 2012 Feb;98(2-3):273-6. doi: 10.1016/j.eplepsyres.2011.09.020. Epub 2011 Nov 1.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • Family Health*
  • Female
  • Humans
  • Lafora Disease / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Turkey
  • Ubiquitin-Protein Ligases
  • Young Adult

Substances

  • Carrier Proteins
  • NHLRC1 protein, human
  • Ubiquitin-Protein Ligases
  • Protein Tyrosine Phosphatases, Non-Receptor
  • EPM2A protein, human