Patients with C-loop missense mutations in the KCNQ1 channel exhibit a high risk for life-threatening events and derive a pronounced benefit from treatment with β-blockers. Reduced channel activation after sympathetic activation can explain the increased clinical risk and response to therapy in patients with C-loop mutations.
Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Circulation. 2012 Apr;125(16):1988-96
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