Article
Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.
The Journal of physiology - 1 Jan 2002
Rea Ruth, Spauschus Alexander, Eunson Louise H, Hanna Michael G, Kullmann Dimitri M
Abstract excerpt
Mutations of KCNA1, which codes for the K(+) channel subunit hKv1.1, are associated with the human autosomal dominant disease episodic ataxia type 1 (EA1). Five recently described mutations are associated with a broad range of phenotypes: neuromyotonia alone or with seizures, EA1 with seizures, or very drug-resistant EA1. Here we investigated the consequences of each mutation for channel assembly, trafficking,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.