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Article

A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22.

Journal of cellular and molecular medicine - 1 Aug 2024

Reis Marlen Colleen, Mandler Laura, Kang Jun-Suk, Oliver Dominik, Halaszovich Christian, Nolte Dagmar

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominant movement disorders. Among the SCAs associated with impaired ion channel function, SCA19/22 is caused by pathogenic variants in KCND3, which encodes the voltage-gated potassium channel Kv4.3. SCA19/22 is clinically characterized by ataxia, dysarthria and oculomotor dysfunction in combination with other signs and symptoms,...

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Source

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Identifiers

PMID: 39180521
DOI: 10.1111/jcmm.70039
PMCID: PMC11344468

Genes

KCND3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22.PMID 39180521Read ↗

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.Semantic proximity Read ↗

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsySemantic proximity Read ↗

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.Semantic proximity Read ↗

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.Semantic proximity Read ↗

Mutations in KCND3 cause spinocerebellar ataxia type 22.Semantic proximity Read ↗

An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.Semantic proximity Read ↗

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Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.Semantic proximity Read ↗

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