Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15771 Athens, Greece.
Epilepsy Unit, First Department of Neurosurgery, Evangelismos Hospital, School of Medicine, National and Kapodistrian University of Athens, 15771 Athens, Greece.
Genes (Basel). 2024 Sep 19;15(9):1224. doi: 10.3390/genes15091224.
Epilepsy is a brain disease with both environmental and genetic inputs. Ion channel dysfunction seems to be of great significance for abnormal neuronal behavior during epileptic seizures. Within neurons, the voltage-gated sodium channels are crucial proteins contributing to the initiation and propagation of action potentials. The voltage-gated sodium channel α subunit 1 () gene encodes for the α subunit of a voltage-gated ion channel. The aim of the study was to investigate the relation of two common variants, i.e., rs3812718 and rs2298771, with distinct epileptic phenotypes in a South-Eastern European population. DNA was extracted from 214 unrelated participants with focal onset, focal to bilateral tonic-clonic, or generalized onset epileptic seizures and genotyped using real-time PCR (LightSNiP assays) followed by melting curve analysis. Statistical analysis of the results was performed using IBM SPSS Statistics software (version 29.0 for Windows). Genotype frequency distribution analysis indicated an association for the A-allele-containing genotypes of both rs3812718 and rs2298771 polymorphisms of with generalized onset seizures and focal to bilateral tonic-clonic seizures versus focal onset seizures. Consequently, the study provides evidence that supports a potential association of the investigated polymorphisms with distinct seizure subtype susceptibility in South-Eastern Europeans.
癫痫是一种具有环境和遗传因素的脑部疾病。离子通道功能障碍似乎对癫痫发作期间神经元的异常行为具有重要意义。在神经元内，电压门控钠离子通道是参与动作电位起始和传播的关键蛋白。电压门控钠离子通道α亚基 1 () 基因编码电压门控离子通道的 α 亚基。本研究旨在调查两个常见的单核苷酸多态性 (SNP) ，即 rs3812718 和 rs2298771 ，与东南欧人群中不同癫痫表型的关系。从 214 名无关的局灶性发作、局灶性到双侧强直阵挛性或全面性发作的癫痫患者中提取 DNA，使用实时 PCR（LightSNiP 检测）进行基因分型，然后进行熔解曲线分析。使用 IBM SPSS Statistics 软件（Windows 版 29.0）对结果进行统计分析。基因型频率分布分析表明，rs3812718 和 rs2298771 多态性与全面性发作和局灶性到双侧强直阵挛性发作与局灶性发作的 rs3812718 和 rs2298771 多态性的 A 等位基因含量相关基因型存在关联。因此，该研究提供了证据支持所研究的 SNP 与东南欧人群中不同癫痫亚型易感性之间存在潜在关联。
