Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.

@article{Calloe2013CharacterizationAM,
  title={Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.},
  author={Kirstine Calloe and Marwan M Refaat and Soren Grubb and Julianne Wojciak and Joan Campagna and Nancy Mutsaers Thomsen and Robert L Nussbaum and Melvin Scheinman and Nicole Schmitt},
  journal={Circulation. Arrhythmia and electrophysiology},
  year={2013},
  volume={6 1},
  pages={
          177-84
        }
}
BACKGROUND Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function. METHODS AND RESULTS We… CONTINUE READING

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