Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.I362M
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KCND3

NM_001378969.1:p.I362M

Associated Papers

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

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

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 panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Coutelier M et al.

Brain : a Journal of Neurology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."