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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...
Gorde:
| Argitaratua izan da: | Sci Rep |
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| Egile Nagusiak: | , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group UK
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6232142/ https://ncbi.nlm.nih.gov/pubmed/30420713 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-34750-8 |
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