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

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 esta...

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Detalhes bibliográficos
Publicado no:Nephron Clin Pract
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2018
Assuntos:
Experimental Nephrology and Genetics: Case Study of Genetic Interest
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6492638/
https://ncbi.nlm.nih.gov/pubmed/29791908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000488954
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