The study aims to characterize the genetic basis of epilepsy in children through exome sequencing.
Cohort of 1,109 children with epilepsy
Exome sequencing performed to identify genetic variants
Analysis of genetic findings for diagnostic relevance
Identification of novel genetic variants associated with epilepsy
Insights into previously understood genetic alterations
Potential for improved diagnosis and personalized treatment strategies
Abstract
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.