Chia‐Ju Lee

Selectivity Filter KCND3 Variant Causes Spinocerebellar Ataxia 19/22 and K V 4 .3 Functional Loss

Abstract Background Spinocerebellar ataxia type 19/22 (SCA19/22) is a rare autosomal dominant neurodegenerative disorder caused by KCND3 variants encoding the K V 4.3 potassium channel. While most pathogenic variants result in loss‐of‐function (LOF), no pathogenic variants were p...