The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P=0.038, OR=0.66, 95% CI=0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P=0.015, OR=2.60, 95% CI=1.20-5.60).
The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P=0.038, OR=0.66, 95% CI=0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P=0.015, OR=2.60, 95% CI=1.20-5.60).
This study demonstrated that variations in the C3435T gene play an important role in the pathogenesis of infantile spasms in the Han Chinese population; 3435TT is associated with increased risk of having this epilepsy syndrome.
A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C>T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press].