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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
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摘要


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.

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