The Value of Novel Candidate Gene Analysis in Individuals with Epilepsy undergoing Exome Sequencing

Since 2011, clinical diagnostic exome sequencing (DES) has proven instrumental in providing molecular diagnoses for patients with wide-ranging, previously undiagnosed genetic diseases. Studies continue to highlight the usefulness of DES, particularly in patients with epilepsy, to yield a high diagnostic rate and to impact both genetic counseling and treatment. Novel candidate genes for patients with epilepsy continue to be elucidated. Herein, we report novel candidate gene findings and clinical characteristics of an unselected laboratory cohort of patients with epilepsy.