Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).

@article{Templin2011IdentificationOA,
  title={Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).},
  author={Christian Templin and Jelena-Rima Ghadri and Jean-S{\'e}bastien Rougier and Alessandra Baumer and Vladim{\'i}r Kaplan and Maxime Albesa and Heinrich Sticht and Anita Rauch and Colleen Puleo and Dan Hu and Hector M Barajas-Mart{\'i}nez and Charles Antzelevitch and Thomas F L{\"u}scher and H. Abriel and F. Bahattin Duru},
  journal={European heart journal},
  year={2011},
  volume={32 9},
  pages={
          1077-88
        }
}
AIMS Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genes encoding potassium and calcium channel subunits have been reported. We present, for the first time, a novel loss-of-function mutation coding for an L-type calcium channel subunit. METHODS AND RESULTS The electrocardiogram of the affected member of a single family revealed a QT interval of 317 ms (QTc… CONTINUE READING
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