关键词: Nav1.4 SCN4A hypokalemic periodic paralysis paramyotonia congenita sodium channelopathy
Mesh : Acetazolamide / therapeutic use Carbonic Anhydrase Inhibitors / therapeutic use Electromyography Humans Hypokalemia / drug therapy etiology metabolism physiopathology Male Middle Aged Muscle Weakness / etiology metabolism physiopathology Mutation Myotonic Disorders / complications diagnosis genetics physiopathology NAV1.4 Voltage-Gated Sodium Channel / genetics Neural Conduction Potassium / therapeutic use