Clinical Characteristics and Treatment Outcomes in Children With Non-Acquired Epilepsy: A Cohort Study Based on Genetic Findings.

This study aimed to analyze the clinical phenotypes, treatment response, and related risk factors in children with epilepsy to improve diagnosis and prognosis, employing a retrospective-prospective cohort design involving 848 children with non-acquired epilepsy who underwent genetic testing and were followed for 1-5 years to monitor treatment efficacy and development, with participants categorized into Gene-positive (n = 484) and Gene-negative (n = 364) groups for comparative analysis. Results showed that the Gene-negative group had a better treatment response than the Gene-positive group, and multivariate logistic analysis identified specific high-risk factors for poor treatment response in each group: febrile seizures history, delayed language development, concomitant congenital heart disease, and the use of ≥ 4 ASMs in the Gene-positive group, and comorbidities such as autism, intellectual disability, focal seizures, and multiple seizure types in the Gene-negative group. In conclusion, children with positive genetic findings exhibited more significant developmental delays/regression and poorer responses to treatment, underscoring the critical prognostic and therapeutic guidance value of genetic testing, while the treatment response observed at the 3-month mark serves as a significant predictor of long-term prognosis, offering a crucial reference for adjusting therapeutic strategies.