Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel [Original Articles]

Conclusions:
We conclude that these rare Kv11.1 missense variants are not long-QT syndrome subtype 2–causative variants and therefore do not represent the pathogenic substrate for sudden infant death syndrome in the variant-positive infants.

Source: Circulation: Arrhythmia and Electrophysiology - May 11, 2018 Category: Cardiology Authors: Smith, J. L., Tester, D. J., Hall, A. R., Burgess, D. E., Hsu, C.-C., Claude Elayi, S., Anderson, C. L., January, C. T., Luo, J. Z., Hartzel, D. N., Mirshahi, U. L., Murray, M. F., Mirshahi, T., Ackerman, M. J., Delisle, B. P. Tags: Arrhythmias, Sudden Cardiac Death, Ventricular Fibrillation, Ion Channels/Membrane Transport, Functional Genomics Original Articles Source Type: research