Caused by a mutation in the KCNQ1 gene. In the first patient, a g919c substitution in the KCNQ1 gene encoding for the K+ channel KvLQT1 was identified. The mutation led to a gain of function in in the KvLQT1 (I(Ks)) channel.  This variant is associated with ventricular fibrillation.
Short QT syndrome type 2
Short QT syndrome type 1
Short QT syndrome type 5
Short QT syndrome type 3
Short QT syndrome type 4
Long QT Syndrome
Long QT syndrome
Singh-Williams-McAlister syndrome