Genetic Etiology of Epilepsy: A Retrospective Study From a Single-Center Cohort

Next generation sequencing (NGS) technology has made significant progress in the genetic diagnosis and treatment of epilepsy. However, genetic studies on epilepsy with different etiologies remain relatively limited. In this study, whole-genome or whole-exome sequencing was performed on 158 unrelated patients with epilepsy of various etiologies, and the identified variants were analyzed for their association with 1356 seizure-related genes in the database. Additionally, the pathogenicity or likely pathogenicity of those variants associated with known epilepsy genes was evaluated. The results showed that pathogenic or likely pathogenic variants were detected in 31.65% (50/158) of the patients in our cohort study. Further analysis revealed significant differences in the diagnostic rates among different epilepsy categories: 29.60% (37/125) for idiopathic epilepsy and 39.39% (13/33) for symptomatic epilepsy. Moreover, the genes PRRT2, KMT2C, PRKRA, NOTCH3, NAGLU, and SCN1A were identified as potentially important for epilepsy, suggesting they could become key targets for clinical diagnosis and treatment. In conclusion, NGS technology demonstrates high diagnostic efficiency for epilepsy of different etiologies and highlights significant differences among various types. This provides novel genetic insights for the diagnosis and treatment of epilepsy.