Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel.

KEY POINTS Missense mutations in the gene encoding the α1 subunit of the skeletal muscle voltage-gated Ca2+ channel induce type 1 hypokalaemic periodic paralysis, a poorly understood neuromuscular disease characterized by episodic attacks of paralysis associated with low serum K+ . Acute expression of human wild-type and R1239H HypoPP1 mutant α1 subunits in… CONTINUE READING