title: Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures.
abstract: Idiopathic generalized epilepsy syndromes are generally considered as brain channelopathies due to alteration of several genes. The aim of our study was to compare the distribution of D2S124 and D2S111 genetic polymorphisms of the SCN2A gene between cases with a specific idiopathic generalized epilepsy subtype (with generalized tonic-clonic seizures) and healthy controls. Allele frequencies of both the D2S111 and the D2S124 polymorphisms were not significantly different between cases and control. Further studies are needed to investigate if possible polymorphic variants of SCN2A gene may influence seizures susceptibility of idiopathic generalized epilepsy with tonic-clonic seizures.
authors: Department of Neurosciences, Pediatric Neurology Unit, University of Rome Tor Vergata, via Montpellier 1, 00133 Rome, Italy.
authors: Anna
authors: A
authors: Volzone
authors: Renata
authors: R
authors: Rizzo
authors: Antonella
authors: A
authors: Gagliano
authors: Mariella
authors: M
authors: Palmarino
authors: Paola
authors: P
authors: Lucarelli
authors: Carla
authors: C
authors: Arpino
authors: Paolo
authors: P
authors: Curatolo
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012016:Reference Values; D012640:Seizures / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels