V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations

Abstract

Our findings suggest that Kv4.3 V374A is likely pathogenic and associated with paroxysmal ataxia exacerbations, a new trait for SCA19/22. The present FDG PET findings contrast with a previous study demonstrating widespread brain hypometabolism in SCA19/22.