Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.

The voltage dependence of fast inactivation has been shown to shift for R222W channels in the Xenopus oocyte system 25 while in our experiments in HEK293 cells the shift in the voltage dependence of inactivation did not reach statistical significance.

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