The periodic paralyses are a group of skeletal muscle channelopathies characterizeed by intermittent attacks of muscle weakness often associated with altered serum potassium levels. The underlying genetic defects include mutations in genes encoding the skeletal muscle calcium channel Cav1.1, sodium channel Nav1.4, and potassium channels Kir2.1, Kir3.4, and possibly Kir2.6. Our increasing knowledge of how mutant channels affect muscle excitability has resulted in better understanding of many clinical phenomena which have been known for decades and sheds light on some of the factors that trigger attacks. Insights into the pathophysiology are also leading to new therapeutic approaches.
Keywords: Andersen–Tawil syndrome; CACNA1S; KCNJ2; SCN4A; gating pore leak; hyperkalemic periodic paralysis; hypokalemic periodic paralysis; muscle excitability; paradoxic depolarization; thyrotoxic periodic paralysis.
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