Integrative In Silico Analysis of Synonymous Variants in ABCG2 and PPARA: Implications for Valproate Resistance in Epilepsy
This study employs an integrative in silico analysis to demonstrate that synonymous variants in the ABCG2 and PPARA genes, previously considered functionally neutral, likely contribute to valproate resistance in epilepsy by disrupting pre-mRNA splicing, altering mRNA structure, and affecting translational kinetics.