Article
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
The Journal of biological chemistry - 1 Jan 2010
van der Wijst Jenny, Glaudemans Bob, Venselaar Hanka, Nair Anil V, Forst Anna-Lena, Hoenderop Joost G J, Bindels René J M
Abstract excerpt
Mutations in the voltage-gated K(+) channel Kv1.1 have been linked with a mixed phenotype of episodic ataxia and/or myokymia. Recently, we presented autosomal dominant hypomagnesemia as a new phenotypic characteristic associated with a mutation in Kv1.1 (N255D) (Glaudemans, B., van der Wijst, J., Scola, R. H., Lorenzoni, P. J., Heister, A., van der Kemp, A. W., Knoers, N. V., Hoenderop, J. G., and Bindels, R. J....
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