Pathomechanisms in channelopathies of skeletal muscle and brain

SC Cannon - Annu. Rev. Neurosci., 2006 - annualreviews.org
Ion channelopathies are a diverse array of human disorders caused by mutations in ion
channel genes. This review focuses on the pathogenic mechanisms of channelopathies
affecting skeletal muscle and brain arising from mutations of voltage-gated ion channels and
fast ligand-gated ion channels expressed at the surface membrane. Derangements in
channel function alter the electrical excitability of the cell and thereby increase susceptibility
to transient symptomatic attacks including myasthenia, periodic paralysis, myotonic stiffness …
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