AI Article Synopsis
- - The study investigates how certain genetic variations (polymorphisms) affect the effectiveness of sodium valproate (VPA) treatment in children with generalized seizures.
- - Researchers analyzed data from 174 children and identified 76 specific genetic polymorphisms, finding significant associations between these variations and the likelihood of seizure reduction.
- - Key findings include that a variation in the UGT2B7 gene was more common in children who did not respond to VPA, while variations in CYP3A4 and SCN1A genes were linked to a better response to the treatment.
Article Abstract
Purpose: This study aims to evaluate the associations between genetic polymorphisms and the effect of sodium valproate (VPA) therapy in children with generalized seizures.
Methods: A total of 174 children with generalized seizures on VPA therapy were enrolled. Steady-state trough plasma concentrations of VPA were analyzed. Seventy-six single nucleotide polymorphisms involved in the absorption, metabolism, transport, and target receptor of VPA were identified, and their associations with the therapeutic effect (seizure reduction) were evaluated using logistic regression adjusted by various influence factors.
Results: rs7668282 (UGT2B7, T > C, OR = 2.67, 95% CI: 1.19 to 5.91, P = 0.017) was more prevalent in drug-resistant patients than drug-responsive patients. rs2242480 (CYP3A4, C > T, OR = 0.27, 95% CI: 0.095 to 0.79, P = 0.017) and rs10188577 (SCN1A, T > C, OR = 0.40, 95% CI: 0.17 to 0.94, P = 0.035) were more prevalent in drug-responsive patients compared to drug-resistant patients.
Conclusion: In children with generalized seizures on VPA therapy, polymorphisms of UGT2B7, CYP3A4, and SCN1A genes were associated with seizure reduction. Larger studies are warranted to corroborate the results.
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| http://dx.doi.org/10.1016/j.seizure.2018.04.006 | DOI Listing |
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