Genes
Diagnostic Yield, Diagnostic Delay, and Clinical Utility of Genetic Testing in 930 Children with Suspected Genetic Epilepsy
By Rui Dong, Hongwei Zhang, Xiaochen Wang and 2 others.
Abstract
Background
Next-generation sequencing (NGS) has transformed pediatric epilepsy care, but real-world data on diagnostic delay and clinical utility remain limited, particularly in Chinese populations.
Methods
This retrospective cohort included 930 children with suspected genetic epilepsy. Diagnostic delay was defined as the interval from seizure onset to genetic testing. Monogenic cases were grouped by functional pathways. Drug resistance was defined per International League Against Epilepsy (ILAE) guidelines.