Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

Epilepsy Res. 2006 Aug;70(2-3):118-26. doi: 10.1016/j.eplepsyres.2006.03.008. Epub 2006 May 16.

Abstract

Mutations in the LGI1/Epitempin gene cause autosomal dominant lateral temporal lobe epilepsy (ADLTE), a partial epilepsy characterized by the presence of auditory seizures. However, not all the pedigrees with a phenotype consistent with ADLTE show mutations in LGI1/Epitempin, or evidence for linkage to the 10q24 locus. Other authors as well as ourselves have found an internal repeat (EPTP, pfam# PF03736) that allowed the identification of three other genes sharing a sequence and structural similarity with LGI1/Epitempin. In this work, we present the sequencing of these genes in a set of ADLTE families without mutations in both LGI1/Epitempin and sporadic cases. No analyzed polymorphisms modified susceptibility in either the familial or sporadic forms of this partial epilepsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Epilepsy, Temporal Lobe / genetics*
  • Genes, Dominant
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype
  • Polymorphism, Genetic
  • Proteins / genetics*
  • Sequence Analysis, DNA

Substances

  • Intracellular Signaling Peptides and Proteins
  • LGI1 protein, human
  • Proteins