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Article

KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

Neurobiology of disease - 1 Nov 2014

Gallego-Iradi Carolina, Bickford Justin S, Khare Swati, Hall Alexis, Nick Jerelyn A, Salmasinia Donya, Wawrowsky Kolja, Bannykh Serguei, Huynh Duong P, Rincon-Limas Diego E, Pulst Stefan M, Nick Harry S, Fernandez-Funez Pedro, Waters Michael F

Abstract excerpt

Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant disease resulting from mutations in KCNC3 (Kv3.3), a voltage-gated potassium channel. The KCNC3(R420H) mutation was first identified as causative for SCA13 in a four-generation Filipino kindred with over 20 affected individuals. Electrophysiological analyses in oocytes previously showed that this mutation did not lead to a functional channel and displayed...

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Identifiers

PMID: 25152487
DOI: 10.1016/j.nbd.2014.08.020
PMCID: PMC4181561

Genes

KCNC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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