The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

DiscussionThis family demonstrates that the phenotypic spectrum associated withKCNT1 pathogenic variants is broader than previously assumed. Our findings indicate that variants inKCNT1 can be associated with mild focal epilepsy and should not be excluded during variant interpretation in such patients based solely on gene –disease validity.
Source: Journal of Neurology - Category: Neurology Source Type: research