title: Association between D18S474 locus on chromosome 18q12 and idiopathic generalized epilepsy.
abstract: 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 D18S474(8) allele was significantly more frequent and D18S474(9) 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.
authors.affiliation: Institute of Molecular Biology and Pathology, National Research Council, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Lucarelli
authors.forename: Renata
authors.initials: R
authors.lastname: Rizzo
authors.forename: Antonella
authors.initials: A
authors.lastname: Gagliano
authors.forename: Mariella
authors.initials: M
authors.lastname: Palmarino
authors.forename: Anna
authors.initials: A
authors.lastname: Volzone
authors.forename: Carla
authors.initials: C
authors.lastname: Arpino
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012802:Sicily
chemical_list: D005819:Genetic Markers