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

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 en...

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Detalles Bibliográficos
Autores principales: Bianchi, Francesca, Simoncini, Costanza, Brugnoni, Raffaella, Ricci, Giulia, Siciliano, Gabriele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315896/
https://www.ncbi.nlm.nih.gov/pubmed/32607479
http://dx.doi.org/10.36185/2532-1900-007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315896/
https://www.ncbi.nlm.nih.gov/pubmed/32607479
http://dx.doi.org/10.36185/2532-1900-007

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