The Turkish Journal of Pediatrics
2010 , Vol 52 , Num 4
Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family
1Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey
and 2Department of Physiology, Ulm University, Ulm, Germany
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.
Keywords :
hypokalemic periodic paralysis, R672H mutation, Turkish family.