Articles with "patient tetany" as a keyword



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A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia

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Published in 2018 at "Nephron"

DOI: 10.1159/000488954

Abstract: 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… read more here.

Keywords: patient tetany; novo kcna1; kcna1 mutation; mutation ... See more keywords