Channelpedia

PubMed 21043388


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav1.1 , Nav1.4



Title: Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.

Authors: Faruk Incecik, Mihriban Ozlem Hergüner, Sakir Altunbaşak, Frank Lehman-Horn

Journal, date & volume: Turk. J. Pediatr., 2010 Jul-Aug , 52, 409-10

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21043388


Abstract
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported. We detected the R672H mutation in one HypoPP Turkish family.