Figure 1. Summary of Diagnostic Yield From Exome Sequencing (ES) Patients With Unexplained Epilepsy.

A total of 522 patients with previously unexplained epilepsy were enrolled and underwent ES, with 1 or both parents as available. We identified diagnostic single nucleotide variants (SNVs) in 89 individuals. These pathogenic or likely pathogenic variants and diagnostic variants of uncertain significance (VUS) were clinically confirmed and returned to patients and families. Dedicated copy number variant (CNV) analysis of the ES data identified an additional 11 diagnostic CNVs, which were also returned to patients and families. Candidate gene findings and VUS in epilepsy-associated genes that were not determined to be diagnostic were not returned to families but will be reevaluated as additional data emerges or in the eventual emergence of functional data supporting pathogenesis.