Title: Sodium Channelopathies of Skeletal Muscle.

Authors: Stephen C Cannon

Journal, date & volume: Handb Exp Pharmacol, 2018, 246, 309-330

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/28939973

Abstract
The NaV1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost all of the inward Na+ current that generates the action potential, but is not present at significant levels in other tissues. Consequently, mutations of SCN4A encoding NaV1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders: sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia. Mutation-specific alternations of NaV1.4 function explain the mechanistic basis for the diverse phenotypes and identify opportunities for strategic intervention to modify the burden of disease.