This study emphasizes the significance of incorporating genetic testing into the presurgical evaluation of children with drug-resistant epilepsy (DRE) undergoing surgery. Analyzing data from 68 pediatric patients, the research found 21 gene variants in 19 patients (45.2%) and deletions/duplications in six patients, through whole-exome sequencing and array CGH, respectively. These genetic findings, which did not alter the surgery indication, were crucial for counseling regarding the likelihood of postoperative seizure freedom and decisions on antiseizure medication (ASM) weaning. Notably, patients with genetic abnormalities were advised to continue with at least one ASM post-surgery. The study also observed that the presence of genetic variants did not significantly affect the International League against Epilepsy (ILAE) seizure outcome, although in 7 patients with unsatisfactory outcomes, genetic findings provided a potential explanation for persistent seizures. This underscores the value of genetic diagnostics in guiding personalized counseling and managing expectations for surgery outcomes in children with DRE.

Importance: Highlights the critical role of genetic testing in the presurgical evaluation of pediatric DRE patients for personalized counseling and management.