Scientific Article 🇬🇧 Mentions KS

Genomic Profiling of Adults with Pharmacoresistant Genetic Generalized Epilepsy

person Benjamin L. Kidder, Jian Xu, Rui Geng, Hunter Dlugas, Anusha Vavilikolanu, Wei Chen, and Vibhangini S. Wasade

calendar_today May 14, 2026

This exploratory study used whole-genome sequencing in 10 adults with medication-resistant genetic generalized epilepsy. Researchers found 133 shared harmful coding variants across 69 genes, pointing to pathways involving metabolism, drug absorption, immunity, vitamin D signaling, and ion transport. Findings need validation in larger, diverse cohorts.