Associated Papers
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
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Pollini L et al.
International Journal of Molecular Sciences, 2020
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
Paucar M et al.
Cerebellum (london, England), 2018
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
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
Smets K et al.
Bmc Medical Genetics, 2015
Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Duarri A et al.
Neurogenetics, 2015
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A et al.
Plos One, 2015
The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Duarri A et al.
Neurogenetics, 2013
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