Clinical Utility of Exome Sequencing in a Pediatric Epilepsy Cohort.

Results demonstrate the clinical utility of ES for individuals with epilepsy across multiple aspects of patient care, including anti-seizure medication (ASM) selection, screening for non-neurological comorbidities and referrals to appropriate medical specialists, referral to reproductive genetic counseling, and access to research, information, and support resources. To our knowledge, this is the first study to evaluate the clinical utility of ES for a pediatric epilepsy cohort with broad epilepsy phenotypes. This work supports the implementation of ES as part of clinical care in this population.