The Clinical and Genetic Landscape of Epilepsy in Individuals with Dual Diagnoses

BACKGROUND

  • Whole Genome Sequencing (WGS) is a comprehensive test that investigates the genome to identify pathogenic variants.
  • WGS enables the simultaneous detection of multiple variant types.
  • Previous studies have shown that 2-7% of individuals undergoing WHS receive a dual molecular diagnosis.
  • The clinical and genetic landscape of specific indications associated with dual diagnoses remains underexplored.
  • This study examined WGS results from patients with dual diagnoses and epilepsy.