<scp><i>KCTD7</i></scp>‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature

Abstract

This study cohort and systematic review consolidated the phenotypic spectrum and natural history of KCTD7-related disorders. Early onset drug-resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials.