Article
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Nephron - 1 Jan 2018
van der Wijst Jenny, Konrad Martin, Verkaart Sjoerd A J, Tkaczyk Marcin, Latta Femke, Altmüller Janine, Thiele Holger, Beck Bodo, Schlingmann Karl Peter, de Baaij Jeroen H F
Abstract excerpt
Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Despite efforts in establishing a genotype-phenotype correlation for the wide variety of symptoms in EA1, little is known on the serum...
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