1. Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy.
- Author
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Bao Z, Li H, Hu J, Zhao R, Yan L, and Zheng A
- Subjects
- Humans, Child, Male, Female, Child, Preschool, China, Asian People genetics, Adolescent, Treatment Outcome, Genotype, Infant, East Asian People, NAV1.1 Voltage-Gated Sodium Channel genetics, Valproic Acid therapeutic use, NAV1.2 Voltage-Gated Sodium Channel genetics, Polymorphism, Single Nucleotide, Epilepsy drug therapy, Epilepsy genetics, Anticonvulsants therapeutic use
- Abstract
Objective: Epilepsy patients exhibit considerable differences in their response to sodium valproate (VPA) therapy, a phenomenon that might be attributed to individual genetic variances. The role of genetic variations, specifically in sodium channels encoded by SCN1A and SCN2A genes, in influencing the effectiveness of VPA in treating epilepsy is still debated. This research focuses on examining the impact of these genetic polymorphisms on the efficacy of VPA therapy among pediatric epilepsy patients in China., Methods: Five single nucleotide polymorphisms (SNPs), including SCN1A (rs10188577, rs2298771, rs3812718) and SCN2A (rs2304016, rs17183814), were genotyped in 233 epilepsy patients undergoing VPA therapy. The associations between genotypes and the antiepileptic effects of VPA were assessed, with 128 patients categorized as VPA responders and 105 as VPA non-responders., Results: In the context of VPA monotherapy, SCN1A rs2298771 and SCN2A rs17183814 were found to be significantly associated with VPA response (P< 0.05)., Conclusion: Our study suggests the findings of this investigation indicate that the polymorphisms SCN1A rs2298771 and SCN2A rs17183814 could potentially act as predictive biomarkers for the responsiveness to VPA among Chinese epilepsy patients., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Bao et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
- Published
- 2024
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