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.

How to cite

1.
Incecik F, Hergüner MO, Altunbaşak S, Lehman-Horn F. Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family. Turk J Pediatr 2010; 52: 409-410.