Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy

Neurogenetics. 2004 Feb;5(1):41-4. doi: 10.1007/s10048-003-0158-8. Epub 2003 Sep 19.


The LGI4 gene is located in a region linked to benign familial infantile convulsions (BFIC) and idiopathic generalized epilepsy. Screening of the LGI4 coding region in BFIC and childhood absence epilepsy (CAE) revealed several frequent exonic polymorphisms. A genotypic association was found for the c.1914GC --> AT polymorphism in 42 CAE patients compared with 110 population controls (chi2 = 6.66, df = 1, P = 0.01), providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Epilepsy, Absence / genetics*
  • Exons / genetics
  • Gene Frequency
  • Genetic Variation
  • Genotype
  • Humans
  • Infant
  • Multigene Family / genetics*
  • Nerve Tissue Proteins
  • Polymorphism, Genetic
  • Proteins / genetics*


  • LGI3 protein, human
  • Nerve Tissue Proteins
  • Proteins