A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome

Conclusion
The F279I mutation induces a gain of function of IKs due to an impaired gating modulation of Kv7.1 induced by KCNE1, leading to a shortening of the cardiac AP.

Source: Cardiovascular Research - August 18, 2015 Category: Cardiology Authors: Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C. Tags: Ion channels and arrythmias Source Type: research