Key result
Mutations at arginines in S4 voltage sensors in hypokalaemic periodic paralysis support an alternative pathway for ion conduction, the gating pore, causing aberrant depolarization and weakness.
Population
Patients or models with channelopathies of skeletal muscle
Design
Review
Authors
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Resolves depolarization enigma in channelopathies; leaves open clinical translation to targeted therapies.
Hypokalaemic periodic paralysis mutations in S4 voltage sensors create an alternative ion conduction pathway (gating pore) that may explain depolarization-induced weakness.
Stephen C. Cannon (2010) conducted a review in Channelopathies of skeletal muscle (myotonia, periodic paralysis). Voltage-sensor mutations (arginines in S4 voltage sensors) was evaluated. Mutations at arginines in S4 voltage sensors in hypokalaemic periodic paralysis support an alternative pathway for ion conduction, the gating pore, causing aberrant depolarization and weakness.
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