A204E mutation in Na(v)1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited form of hyperPP is caused by overactivity of Na(v)1.4 — the skeletal muscle voltage-gated sodium channel. Famil...

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Detalles Bibliográficos
Autores principales: Kokunai, Yosuke, Dalle, Carine, Vicart, Savine, Sternberg, Damien, Pouliot, Valérie, Bendahhou, Said, Fournier, Emmanuel, Chahine, Mohamed, Fontaine, Bertrand, Nicole, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232142/
https://www.ncbi.nlm.nih.gov/pubmed/30420713
http://dx.doi.org/10.1038/s41598-018-34750-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232142/
https://www.ncbi.nlm.nih.gov/pubmed/30420713
http://dx.doi.org/10.1038/s41598-018-34750-8

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