Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy
Abstract
Background and Objectives: Genetic testing has emerged as a transformative tool for the diagnosis and treatment of epilepsy. The aim of this study was to characterize the genetic basis of pediatric epilepsy. Methods: We analyzed a cohort of 1,109 children with epilepsy who underwent whole-exome sequencing. Genetic findings were interpreted based on medical records and genetic testing results. Results: = 0.036) were associated with a higher likelihood of achieving a genetic diagnosis. Negative results were obtained in 51.4% (570/1,109) of patients. Discussion: This single-center study provides a comprehensive overview of the genetic landscape of pediatric epilepsy, enhancing our understanding of the genetic basis and offering insights for clinical diagnosis and genetic counseling. These findings underscore the clinical utility of genetic testing in pediatric epilepsy.
Fields of Study & Subjects
Genomics and Rare Diseases
Epilepsy research and treatment
Hereditary Neurological Disorders
Publication details
- Journal / source
- Neurology Genetics
- Publisher
- Ovid Technologies (Wolters Kluwer Health)
- Volume
- 12
- Issue
- 3
- Pages
- e200387–e200387
- Publication date
- 14 May 2026
- Language
- EN