Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Abstract

See Scheffer (doi:10.1093/brain/awz208) for a scientific commentary on this article. In a prospective population-based cohort study, Symonds et al. perform high-throughput genetic testing in children presenting with seizures before 3 years of age, and provide incidence estimates for the most common single-gene epilepsies. One quarter of cases are found to have a genetic cause, and 80% of the genetic diagnoses are found to have potential treatment implications.