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Article

Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.

Neuroscience - 1 Jan 1999

Boland L M, Price D L, Jackson K A

Abstract excerpt

Episodic ataxia type 1 is a rare, autosomal dominant neurological disorder caused by missense mutations of the Kv1.1 gene from the Shaker K+ channel subfamily. To study the functional effects of the disease-causing mutations in a robust K+ channel background, we introduced seven different episodic ataxia type 1 substitutions into the corresponding, conserved residues of the Shaker K+ channel. K+ channel currents...

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Source

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PMID: 10391459
DOI: 10.1016/s0306-4522(98)00718-0

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Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.PMID 10391459Read ↗

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

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

Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.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 ↗

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

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