An expanding view for the molecular basis of familial periodic paralysis.
The periodic paralyses are rare disorders of skeletal muscle characterized by episodic attacks of weakness due to intermittent failure of electrical excitability. Familial forms of periodic paralysis are all caused by mutations in genes coding for voltage-gated ion channels. New discoveries in the past 2 years have broadened our views on the diversity of phenotypes produced by mutations of a single channel gene and have led to the identification of potassium channel mutations, in addition to those previously found in sodium and calcium channels. This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis.
Cannon
Stephen C
SC
Department of Neurology, Massachusetts General Hospital/Wellman 423, 50 Blossom Street, Boston, MA 02114, USA. cannon@helix.mgh.harvard.edu
D015220:Calcium Channels / Q000235:genetics*; D005838:Genotype; D006011:Glycogen Storage Disease Type IV / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation; D010245:Paralyses, Familial Periodic / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype; D015221:Potassium Channels / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D015220:Calcium Channels; D015221:Potassium Channels; D015222:Sodium Channels