Key result
Ion channel mutations cause various channelopathies, including myotonic discharges, episodic paralysis, cardiac repolarization defects, fatal arrhythmias, episodic ataxia, and epilepsy.
Ion channel mutations are responsible for a variety of channelopathies across skeletal muscle, cardiac muscle, and the central nervous system.
Alerts clinicians to screen for cardiac arrhythmias in neurological channelopathies; leaves open mutation-specific therapeutic targets.
Voltage-gated ion channels control many aspects of signal transduction in both muscle and nerve. These channels are finely tuned, and either increased or decreased channel activity can adversely affect function. In skeletal muscle, mutations in ion channel genes have been shown to cause both myotonic discharges and episodic paralysis. In cardiac muscle, mutations in related ion channels can produce repolarization defects and fatal arrhythmias. During the past 2 years, a new chapter in the channelopathy story has been opened with the identification of ion channel mutations in the brain that cause disorders ranging from episodic ataxia to epilepsy.
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Robert L. Barchi (1998) conducted a review in Channelopathies. Ion channel mutations was evaluated. Ion channel mutations cause various channelopathies, including myotonic discharges, episodic paralysis, cardiac repolarization defects, fatal arrhythmias, episodic ataxia, and epilepsy.
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