The role of continued research analysis and analysis of exome data in reaching a conclusive diagnosis for epilepsy

Takeaway

  • Pathogenic or likely pathogenic variants were identified by whole exome sequencing (WES) in 40% of children with unexplained or suspected epilepsy.

Why this matters

    These data demonstrate the possible role of continued analysis of genetic data in establishing a conclusive diagnosis for children with epilepsy, with previously unknown etiology.