Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

Abstract

Gain-of-function <i>KCNT1</i> pathogenic variants cause a spectrum of severe focal epilepsies with onset in early infancy. Currently, genotype-phenotype correlations are unclear, although clinical outcome is poor for the majority of cases. Further elucidation of disease mechanisms may facilitate the development of targeted treatments, much needed for this pharmacoresistant genetic epilepsy.