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.Westudied 295 children: 121 cases and 174 controls.Wefound that theD18S4748 allele was significantly more frequent and D18S4749 significantly less frequent in cases compared with controls (p < .001). In conclusions, our findings showthe association between theD18S474marker andIGEin which early onsetGTCS represent themost prevalent seizure type.

Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures

RIZZO, Renata;
2007-01-01

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.Westudied 295 children: 121 cases and 174 controls.Wefound that theD18S4748 allele was significantly more frequent and D18S4749 significantly less frequent in cases compared with controls (p < .001). In conclusions, our findings showthe association between theD18S474marker andIGEin which early onsetGTCS represent themost prevalent seizure type.
2007
Idiopathic generalized epilepsy,; Genetic polymorphism; Chromosome 18q12
File in questo prodotto:
File Dimensione Formato  
JChildNeurol2007_907 Volzone Rizzo.pdf

solo gestori archivio

Tipologia: Versione Editoriale (PDF)
Dimensione 56.08 kB
Formato Adobe PDF
56.08 kB Adobe PDF   Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/33078
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 1
  • ???jsp.display-item.citation.isi??? 1
social impact