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
35021282 (PubMed )
Supplement: jcn-18-90-s003.pdf
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
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 De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M et al.
Cerebellum (london, England), 2018
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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