title: Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.
abstract: 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.
mesh_terms: D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007223:Infant; D005810:Multigene Family / Q000235:genetics*; D009419:Nerve Tissue Proteins; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*
chemical_list: C456924:LGI3 protein, human; D009419:Nerve Tissue Proteins; D011506:Proteins