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Article

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

The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Jun 2002

Maylie Brooke, Bissonnette Erinne, Virk Michael, Adelman John P, Maylie James G

Abstract excerpt

Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder affecting both central and peripheral nerve function, causing attacks of imbalance and uncontrolled movements. Genetic linkage studies have identified mutations in the gene encoding the voltage-gated delayed rectifier potassium channel Kv1.1 as underlying EA1. The EA1 mutations E325D and V408A, residing near the cytoplasmic ends of S5 and...

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PMID: 12077175
PMCID: PMC6757728

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

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Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.PMID 12077175Read ↗

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