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首页> 外文期刊>Balkan journal of medical genetics: BJMG >INFLUENCE OF THE SCN1AIVS5N + 5 G>A POLYMORPHISM ON THERAPY WITH CARBAMAZEPINE FOR EPILEPSY
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INFLUENCE OF THE SCN1AIVS5N + 5 G>A POLYMORPHISM ON THERAPY WITH CARBAMAZEPINE FOR EPILEPSY

机译：SCN1AIVS5N + 5 G> A多态性对卡马西平治疗癫痫的影响

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摘要

Carbamazepine (CBZ) blocks neuronal sodium channels in a voltage- and frequency-dependent manner, delaying the recovery of the channels from the inactivated state, reducing the number of action potentials within a burst, and decreasing burst duration. The a-subunit of the first neuronal sodium channel (SCN1A) is a major gene in different epilepsies. A synonymous polymorphism (SCN1A IVS5N + 5 G>Aor rs3812718) is common in exon 5 of this gene. Mutations in the a-unit of this gene are associated with CBZ-resistant epilepsy and a higher maintenance dose of CBZ. We have investigated the association of this single nucleotide polymorphism (SNP) and epilepsy, efficacy and dose-dependence of CBZ therapy in 147 adult Macedonian patients and 137 non epileptic controls. No significant differences in allelic frequencies and genotype distribution were found between patients and controls (p = 0.94278), or between CBZ-responsive and unresponsive patients (p = 0.55449). An association between the A allele and a higher maintenance dose in CBZ-responsive patients was detected.
机译：卡马西平（CBZ）以电压和频率依赖性方式阻断神经元钠通道，从而延迟了通道从失活状态的恢复，减少了猝发内动作电位的数量，并减少了猝发持续时间。第一神经元钠通道（SCN1A）的a亚基是不同癫痫中的主要基因。在该基因的外显子5中常见同义多态性（SCN1A IVS5N + 5 G> Aor rs3812718）。该基因的α-单位突变与CBZ抗性癫痫和较高的CBZ维持剂量有关。我们研究了这种单核苷酸多态性（SNP）与癫痫，147名成人马其顿患者和137名非癫痫对照患者的CBZ治疗的关联，疗效和剂量依赖性。在患者和对照之间（p = 0.94278），或在CBZ反应性和无反应性患者之间（p = 0.55449），等位基因频率和基因型分布均无显着差异。在CBZ反应患者中检测到A等位基因与较高维持剂量之间的关联。

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