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

doi:10.1016/s0014-5793(98)00814-x

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Article

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

FEBS letters - 24 Jul 1998

Zerr P, Adelman J P, Maylie J

Abstract excerpt

Episodic ataxia (EA) is a rare inherited neurological disorder due to mutation in the voltage-dependent Kv1.1 potassium channel. In nine unrelated families, a different missense point mutation at highly conserved positions has been reported. We have previously characterized six of the EA mutants....

Topics

Animals
Ataxia
Humans
Mutation
Potassium Channels
Xenopus

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