Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.

@article{Li2009GainoffunctionMO,
  title={Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.},
  author={Qiuju Li and Hai Huang and Gele Liu and Khanh Lam and Julie Rutberg and Martin S. Green and David Hugh Birnie and Robert Lemery and Mohamed Chahine and Michael Howard Gollob},
  journal={Biochemical and biophysical research communications},
  year={2009},
  volume={380 1},
  pages={132-7}
}
Genetic mutations of the cardiac sodium channel (SCN5A) specific only to the phenotype of atrial fibrillation have recently been described. However, data on the biophysical properties of SCN5A variants associated with atrial fibrillation are scarce. In a mother and son with lone atrial fibrillation, we identified a novel SCN5A coding variant, K1493R, which altered a highly conserved residue in the DIII-IV linker and was located six amino acids downstream from the fast inactivation motif of… CONTINUE READING

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