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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.,...

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Identifiers

PMID: 19903818
DOI: 10.1074/jbc.M109.041517
PMCID: PMC2804162

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19903818-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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