Associated Papers
A dominant negative Kcnd3 F227del mutation in mice causes spinocerebellar ataxia type 22 (SCA22) by impairing ER and Golgi functioning.
Hung HC et al.
The Journal of Pathology, 2025
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.
Palombo F et al.
Neurology. Genetics, 2022
A Novel KCND3 Variant in a Korean Family With SCA19.
Ha H et al.
Journal of Clinical Neurology (seoul, Korea), 2022
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 2022
Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.
Li M et al.
Frontiers in Molecular Neuroscience, 2022
Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.
Hsiao CT et al.
International Journal of Molecular Sciences, 2021
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.
Paucar M et al.
Neurology. Genetics, 2021
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Pollini L et al.
International Journal of Molecular Sciences, 2020
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating.
Hsiao CT et al.
Human Mutation, 2019
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M et al.
Cerebellum (london, England), 2018
A novel KCND3 mutation associated with early-onset lone atrial fibrillation.
Huang Y et al.
Oncotarget, 2017
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
Coutelier M et al.
Journal of Neurology, 2015
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Duarri A et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22.
Pulst SM et al.
Annals of Neurology, 2012
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A et al.
Annals of Neurology, 2012