Association between D18S474 locus on chromosome 18q12 and idiopathic generalized epilepsy

Idiopathic generalized epilepsy is one of the most common forms of epilepsy. The aetiology of IGE is genetically determined, but the pattern of inheritance is still undefined. Recent studies in common IGE showed evidence for linkage on chromosome 18q12 at the D18S474 locus. The aim of our study was to compare the distribution of allelic variants of D18S474 locus in children affected by generalized tonic–clonic seizures and in healthy controls. We studied 295 children: 121 cases and 174 controls. We found that the D18S4748 allele was significantly more frequent and D18S4749 significantly less frequent in cases compared with controls (p < .001). In conclusions, our findings show the association between the D18S474 marker and IGE in which early onset GTCS represent the most prevalent seizure type.