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

被引：6

作者：

Toldo, Irene ^{[1
]}

Bruson, Alice ^{[2
]}

Casarin, Alberto ^{[2
]}

Salviati, Leonardo ^{[2
]}

Boniver, Clementina ^{[1
]}

Sartori, Stefano ^{[1
]}

Montagna, Pasquale ^{[3
]}

Battistella, Pier Antonio ^{[1
]}

Clementi, Maurizio ^{[2
]}

机构：

[1] Univ Padua, Dept Pediat, Child Neurol Unit, I-35128 Padua, Italy

[2] Univ Padua, Dept Pediat, Genet Unit, I-35128 Padua, Italy

[3] Univ Bologna, Dept Neurol Sci, Bologna, Italy

来源：

JOURNAL OF HEADACHE AND PAIN | 2011年 / 12卷 / 04期

关键词：

Migraine; Epilepsy; Comorbidity; SCN1A gene; Children; SODIUM-CHANNELS SCN1A; FEBRILE SEIZURES PLUS; GENERALIZED EPILEPSY; MUTATION; MIGRAINE; CACNA1A; SCN2A; COMORBIDITY; ASSOCIATION; RESISTANCE;

D O I：

10.1007/s10194-011-0359-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：435 / 441

页数：7

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