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Article

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.

American journal of physiology. Cell physiology - 1 Jun 2011

Imbrici Paola, D'Adamo Maria Cristina, Grottesi Alessandro, Biscarini Andrea, Pessia Mauro

Abstract excerpt

Episodic ataxia type 1 (EA1) is an autosomal dominant disorder characterized by continuous myokymia and episodic attacks of ataxia. Mutations in the gene KCNA1 that encodes the voltage-gated potassium channel Kv1.1 are responsible for EA1. In several brain areas, Kv1.1 coassembles with Kv1.4, which confers N-type inactivating properties to heteromeric channels. It is therefore likely that the rate of inactivation...

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Identifiers

PMID: 21307345
DOI: 10.1152/ajpcell.00456.2010

Genes

KCNA1

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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.

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Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.PMID 21307345Read ↗

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.Semantic proximity Read ↗

Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.Semantic proximity Read ↗

Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.Semantic proximity Read ↗

Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.Semantic proximity Read ↗

Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties.Semantic proximity Read ↗

Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.Semantic proximity Read ↗

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.Semantic proximity Read ↗

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.Semantic proximity Read ↗

Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.Semantic proximity Read ↗

Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.Semantic proximity Read ↗

Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1.Semantic proximity Read ↗

Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.Semantic proximity Read ↗

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