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Article

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Mar 2020

Bianchi Francesca, Simoncini Costanza, Brugnoni Raffaella, Ricci Giulia, Siciliano Gabriele

Abstract excerpt

Mutations of the main voltage-gated K channel members Kv1.1 are linked to several clinical conditions, such as periodic ataxia type 1, myokymia and seizure disorders. Due to their role in active magnesium reabsorption through the renal distal convoluted tubule segment, mutations in the KCNA1 gene encoding for Kv1.1 has been associated with hypomagnesemia with myokymia and tetanic crises. Here we describe a case...

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Identifiers

PMID: 32607479
DOI: 10.36185/2532-1900-007
PMCID: PMC7315896

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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