Moreno…Valenzuela {Cardiovasc Res 107: 613}

A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. Cardiovasc Res. 2015 Sep 1;107(4):613-23.
The co-assembly between F279I Kv7.1 channels and KCNE1 was decreased compared with WT Kv7.1 channels. These effects lead to the increase of IKs when channels incorporate F279I Kv7.1 subunits (left panel), as shown by a model simulation of these data (right panel) that predicts a shortening of the action potential consistent with the patient phenotype.