The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis.

ABSTRACT:

Purpose

Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium channel gene, SCN4A, have been found to be responsible for HOKPP; however, the mechanism that causes hypokalemia remains to be determined. The aim of this study was to improve the understanding of this mechanism by investigating the expression of calcium-activated potassium (KCa) channel genes in HOKPP patients.

Methods

We measured the intracellular calcium concentration with fura-2-acetoxymethyl ester in skeletal muscle cells of HOKPP patients and healthy individuals. We examined the mRNA and protein expression of KCa channel genes (KCNMA1, KCNN1, KCN

SUBMITTER: Kim JB 

PROVIDER: S-EPMC4219947 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature