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首页> 外文期刊>Journal of child neurology >Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures.
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Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures.

机译:缺乏证据表明SCN2A基因的D2S124和D2S111多态性与特发性全身性癫痫伴全身性强直阵挛性癫痫发作相关。

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摘要

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.
机译:由于几种基因的改变,特发性全身性癫痫综合征通常被认为是脑通道病。我们研究的目的是比较SCN2A基因的D2S124和D2S111基因多态性在特定特发性全身性癫痫亚型(全身性强直阵挛性癫痫发作)与健康对照之间的分布。 D2S111和D2S124多态性的等位基因频率在病例和对照组之间没有显着差异。 SCN2A基因的多态性变体是否可能影响特发性阵挛性发作的特发性全身性癫痫发作的敏感性,还需要进一步的研究。

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