Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

  title={Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).},
  author={Martin Tristani-Firouzi and Judy L Jensen and Matthew R. Donaldson and Valeria Ada Sansone and Giovanni Meola and Angelika Hahn and Sa{\"i}d Bendahhou and Hubert Kwiecinski and Anna Fidziańska and Nikki Plaster and Ying-Hui Fu and Louis J. Pt{\'a}cek and Rabi Tawil},
  journal={The Journal of clinical investigation},
  volume={110 3},
Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1. In this report, we characterized the functional consequences of three novel and seven previously described KCNJ2 mutations using a two-microelectrode voltage-clamp technique and correlated the findings… CONTINUE READING
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