Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy

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 (χ 2=6.66, df=1, P=0.01), providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region.