Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsive nature that develop against a background of lost or preserved consciousness. The genetic component plays a large role in the etiology of idiopathic forms of epilepsy. The study of the molecular genetic basis of neurological disorders has led to a rapidly growing number of gene mutations known to be involved in hereditary ion channel dysfunction. The aim of this research was to evaluate the involvement of single-nucleotide variants that modify the function of genes (SCN1A, KCNT1, KCNTС1, and KCNQ2) encoding sodium and potassium ion channel polypeptides in the development of epilepsy. De novo mutations in the sodium channel gene SCN1A c.5347G>A (p. Ala1783Thr) were detected in two patients with Dravet syndrome, with a deletion in exon 26 found in one. Three de novo mutations in the potassium channel gene KCNT1 c.2800G>A (p. Ala934Thr), were observed in two patients with temporal lobe epilepsy (TLE) and one patient with residual encephalopathy. Moreover, a control cohort matched to the case cohort did not reveal any SNVs among conditionally healthy individuals, supporting the pathogenic significance of the studied SNVs. Our results are supported by literature data showing that the sodium ion channel gene SCN1A c.5347G>A mutation may be involved in the pathogenesis of Dravet syndrome. We also note that the c.2800G>A mutation in the potassium channel gene KCNT1 can cause not only autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) but also other forms of epilepsy. To treat pathogenetic mutations that accelerate the function of sodium and potassium ion channels, we recommend ion channel blockade drug therapy.

中文翻译：

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非机械性癫痫中钠钾通道基因单核苷酸变异意义的研究

癫痫是最常见和异质性的神经系统疾病之一。该疾病的主要临床体征是在意识丧失或保留的背景下出现的抽搐和非抽搐性质的反复症状性或特发性癫痫发作。遗传成分在特发性癫痫的病因学中起着重要作用。对神经系统疾病分子遗传基础的研究导致已知与遗传性离子通道功能障碍有关的基因突变数量迅速增加。本研究的目的是评估改变编码钠离子和钾离子通道多肽的基因（SCN1A、KCNT1、KCNTС1 和 KCNQ2）的功能的单核苷酸变体在癫痫发展中的参与。钠通道基因 SCN1A c 中的从头突变。在两名 Dravet 综合征患者中检测到 5347G>A (p. Ala1783Thr)，其中一名患者发现外显子 26 缺失。在两名颞叶癫痫 (TLE) 患者和一名残留脑病患者中观察到钾通道基因 KCNT1 c.2800G>A (p. Ala934Thr) 中的三个从头突变。此外，与病例队列匹配的对照队列在条件健康的个体中未发现任何 SNV，支持所研究的 SNV 的致病意义。我们的研究结果得到文献数据的支持，表明钠离子通道基因 SCN1A c.5347G>A 突变可能参与了 Dravet 综合征的发病机制。我们还注意到，钾通道基因 KCNT1 中的 c.2800G>A 突变不仅可引起常染色体显性遗传夜间额叶癫痫 (ADNFLE)，还可引起其他形式的癫痫。