New mechanisms underlying the variable phenotypes caused by N- and C-terminal mutations in the cardiac sodium channel.

@inproceedings{Ziyadeh2014NewMU,
  title={New mechanisms underlying the variable phenotypes caused by N- and C-terminal mutations in the cardiac sodium channel.},
  author={Azza Ziyadeh},
  year={2014}
}
Mutations in the SCN5A gene, which encodes the α-subunit of the cardiac sodium channel Nav1.5, are implicated in different inherited cardiac arrhythmias. The incomplete penetrance observed in these diseases suggests the existence of other factors modulating the phenotype of these mutations. In this thesis work, we characterized two mutations identified in SCN5A. The R104W mutant identified in a patient with Brugada syndrome is retained in the endoplasmic reticulum (ER), degraded by the… CONTINUE READING

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