Associated Papers
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D et al.
Ebiomedicine, 2025
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 Novel KCND3 Variant in a Korean Family With SCA19.
Ha H et al.
Journal of Clinical Neurology (seoul, Korea), 2022
35021282 (PubMed )
Supplement: jcn-18-90-s003.pdf
Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.
Li M et al.
Frontiers in Molecular Neuroscience, 2022
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
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
Tada Y et al.
Journal of Human Genetics, 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 Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
Paucar M et al.
Cerebellum (london, England), 2018
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
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
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