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.
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