Epilepsy is one of the most widely recognized neurological disorders; unfortunately, twenty to thirty percent of patients do not get cured from epilepsy, despite many trials of antiepileptic drug (AED) therapy. Immunotherapy may be a viable treatment strategy in a subset of epileptic patients. The association between Toll-like receptor polymorphisms and epilepsy clarifies the role of the immune system in epilepsy and its response to the drug. Thus, this study will focus on the relation between TLR4 rs1927914, rs11536858, rs1927911SNPs, and epilepsy in an Egyptian case-control study to assess their link to antiepileptic drug response. According to TLR4 rs1927914, there is a significant association between the SNP and the development of epilepsy, as CC genotype is 15.3 times more at risk for developing epilepsy than TT genotype, and CT is 11.1 times more at risk for developing epilepsy than TT. Also, patients with CC genotypes are 6.3 times more at risk for developing primary epilepsy than TT genotype. According to rs11536858, there is a significant association between cases and control groups, as AA genotypes are found to be more at risk for developing epilepsy than GG genotypes. Also, there is a statistically significant association between clonazepam resistance and rs11536858, as p value < 0.001* with the highest frequency of TT genotypes at 4.3%. According to rs1927911, there are no significant results between the cases and the control groups or between drug-responsive and drug resistance. Possible involvement of the Toll-like receptor clarifies the importance of innate immunity in initiating seizures and making neuronal hyperexcitability. In this work, multiple significant associations between TLR SNPs and epilepsy, epileptic phenotype, and drug-resistant epilepsy have been found. More studies with bigger sample sizes and different techniques with different SNPs are recommended to find the proper immunotherapy for epilepsy instead of the treatment by antiepileptic drugs.

中文翻译：

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Toll 样受体 4 (TLR4) 基因分型与儿童癫痫风险之间的关联

癫痫是最广为人知的神经系统疾病之一。不幸的是，尽管进行了许多抗癫痫药物 (AED) 治疗试验，但仍有 20% 至 30% 的患者无法治愈癫痫症。在一部分癫痫患者中，免疫疗法可能是一种可行的治疗策略。Toll 样受体多态性与癫痫之间的关联阐明了免疫系统在癫痫中的作用及其对药物的反应。因此，本研究将重点关注埃及病例对照研究中 TLR4 rs1927914、rs11536858、rs1927911SNP 和癫痫之间的关系，以评估它们与抗癫痫药物反应的联系。根据 TLR4 rs1927914，SNP 与癫痫的发生之间存在显着关联，因为 CC 基因型发生癫痫的风险是 TT 基因型的 15.3 倍，而 CT 为 11。发生癫痫的风险是 TT 的 1 倍。此外，CC 基因型患者发生原发性癫痫的风险是 TT 基因型患者的 6.3 倍。根据 rs11536858，病例组和对照组之间存在显着关联，因为发现 AA 基因型比 GG 基因型更容易患癫痫症。此外，氯硝西泮耐药性与 rs11536858 之间存在统计学上显着的关联，因为 p 值 < 0.001*，TT 基因型的最高频率为 4.3%。根据rs1927911，病例组和对照组之间或药物反应组和耐药组之间没有显着结果。Toll 样受体的可能参与阐明了先天免疫在引发癫痫发作和使神经元过度兴奋中的重要性。在这项工作中，已发现 TLR SNP 与癫痫、癫痫表型和耐药性癫痫之间存在多种显着关联。建议进行更多具有更大样本量和不同 SNP 的不同技术的研究，以找到合适的癫痫免疫疗法，而不是抗癫痫药物治疗。