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Loss of function mutations in human ERG1 prolong the action potential and cause long QT syndrome, a heart condition associated with potentially fatal cardiac arrhythmia Curran et al. Collectively, our present and previous site-directed mutagenesis studies suggest a similar tripartite molecular model for slow inactivation of hEAG1 and KCNQ1 channels, and that although hEAG1 and hERG1 channels are highly related, they do not share a common mechanism of inactivation. Drosophila erg1 channels are encoded by the seizure locus, and mutations cause a muscle paralysis associated with hyperactivity in the flight motor pathway Titus et al.
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