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.