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Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

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 >...

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Autores principales: Toldo, Irene, Bruson, Alice, Casarin, Alberto, Salviati, Leonardo, Boniver, Clementina, Sartori, Stefano, Montagna, Pasquale, Battistella, Pier Antonio, Clementi, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Milan 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139068/
https://www.ncbi.nlm.nih.gov/pubmed/21713554
http://dx.doi.org/10.1007/s10194-011-0359-8
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author Toldo, Irene
Bruson, Alice
Casarin, Alberto
Salviati, Leonardo
Boniver, Clementina
Sartori, Stefano
Montagna, Pasquale
Battistella, Pier Antonio
Clementi, Maurizio
author_facet Toldo, Irene
Bruson, Alice
Casarin, Alberto
Salviati, Leonardo
Boniver, Clementina
Sartori, Stefano
Montagna, Pasquale
Battistella, Pier Antonio
Clementi, Maurizio
author_sort Toldo, Irene
collection PubMed
description 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.
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spelling pubmed-31390682011-08-26 Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? Toldo, Irene Bruson, Alice Casarin, Alberto Salviati, Leonardo Boniver, Clementina Sartori, Stefano Montagna, Pasquale Battistella, Pier Antonio Clementi, Maurizio J Headache Pain Original 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. Springer Milan 2011-06-29 /pmc/articles/PMC3139068/ /pubmed/21713554 http://dx.doi.org/10.1007/s10194-011-0359-8 Text en © The Author(s) 2011 https://creativecommons.org/licenses/by/4.0/This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Original
Toldo, Irene
Bruson, Alice
Casarin, Alberto
Salviati, Leonardo
Boniver, Clementina
Sartori, Stefano
Montagna, Pasquale
Battistella, Pier Antonio
Clementi, Maurizio
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
title Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
title_full Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
title_fullStr Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
title_full_unstemmed Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
title_short Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
title_sort polymorphisms of the scn1a gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
topic Original
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139068/
https://www.ncbi.nlm.nih.gov/pubmed/21713554
http://dx.doi.org/10.1007/s10194-011-0359-8
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