Combined exome analysis and exome depth assessment achieves a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

" analysis tools offer the possibility to simultaneously detect several types of variations. Wide assessment of variable findings, specifically those found to be novel and least expected, reflect the ever-evolving genetic landscape of seizure development, potentially beneficial for increased opportunities for trial recruitment and enrollment, and optimized, even personalized, medical management.