Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
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.
Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Faruk
F
Incecik
Mihriban Ozlem
MO
Hergüner
Sakir
S
Altunbaşak
Frank
F
Lehman-Horn
D000293:Adolescent; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D009154:Mutation; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010375:Pedigree; D015222:Sodium Channels / Q000235:genetics*; D014421:Turkey
D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels