title: Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
abstract: The purpose of this study was to evaluate the distribution of the polymorphisms of the SCN1A gene in a series of children and adolescents with primary headache and idiopathic or cryptogenic epilepsy compared to controls. Five non-synonymous exonic polymorphisms (1748A > T, 2656T > C, 3199A > G, 5771G > A, 5864T > C) of the SCN1A gene were selected and their genotyping was performed, by high resolution melting (HRM), in 49 cases and 100 controls. We found that among the five polymorphisms, only 3199A > G was a true polymorphism. We did not find a statistically significant difference between distribution of 3199A > G genotypes between cases and controls. We excluded the role of the SCN1A gene in the pathogenesis of comorbidity between headache (especially migraine) and epilepsy. The SCN1A gene is a major gene in different epilepsies and epilepsy syndromes; the HRM could be the new methodology, more rapid and efficacious, for molecular analysis of the SCN1A gene.
authors.affiliation: Child Neurology Unit, Department of Pediatrics, University of Padua, Via Giustiniani, 3, 35128 Padua, Italy. irene.toldo@unipd.it
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.forename: Alice
authors.initials: A
authors.lastname: Bruson
authors.forename: Alberto
authors.initials: A
authors.lastname: Casarin
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Clementina
authors.initials: C
authors.lastname: Boniver
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
authors.forename: Pasquale
authors.initials: P
authors.lastname: Montagna
authors.forename: Pier Antonio
authors.initials: PA
authors.lastname: Battistella
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D015897:Comorbidity; D004827:Epilepsy / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D051270:Headache Disorders, Primary / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels