Na V 1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers

Hypokalemic periodic paralysis is a skeletal muscle disease characterized by episodic weakness associated with low serum potassium. We compared clinical and biophysical effects of R222W, the first hNa 1.4 domain I mutation linked to this disease. R222W patients exhibited a higher density of fibers w...

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Veröffentlicht in:	Scientific reports 2018-07, Vol.8 (1), p.10372
Hauptverfasser:	Bayless-Edwards, Landon, Winston, Vern, Lehmann-Horn, Frank, Arinze, Paula, Groome, James R, Jurkat-Rott, Karin
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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