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.
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页码：435 / 441
页数：7
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