Two new putative susceptibility loci for ADNFLE

Brain Res Bull. 2005 Oct 30;67(4):257-63. doi: 10.1016/j.brainresbull.2005.06.032.

Abstract

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) has been up to now considered a simple Mendelian trait caused by mutations in neuronal nicotinic acetylcholine receptor (nAChR) subunit genes. We previously demonstrated that in a three-generation Italian family the disease was unlinked to all known ADNFLE loci as well as to all known brain-expressed nAChR subunits. The genome-wide linkage analysis here presented performed on this family points to the existence of two new putative ADNFLE loci on chromosomes 3p22-p24 and 8q11.2-q21.1. These findings, together with several ADNFLE characteristics, suggest that this epilepsy could be, at least in the above family, a complex disorder. In particular, we propose and discuss the hypothesis of a digenic transmission of the disease.

Publication types

  • Comparative Study

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 8*
  • Disease Susceptibility*
  • Epilepsy, Frontal Lobe / genetics*
  • Family Health
  • Female
  • Genes, Dominant
  • Genetic Predisposition to Disease*
  • Genomics / methods
  • Humans
  • Male