A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

@article{Riur2013AMM,
  title={A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.},
  author={Helena Riur{\'o} and Pedro Beltran-Alvarez and Anna Tarradas and Elisabet Selga and Oscar Campuzano and Marcel Verg{\'e}s and Sara Pagans and A. Toimil Iglesias and Josep Brugada and Pedro Brugada and Francisco M V{\'a}zquez and Guillermo J. P{\'e}rez and Fabiana S. Scornik and Ramon Brugada},
  journal={Human mutation},
  year={2013},
  volume={34 7},
  pages={961-6}
}
Brugada Syndrome (BrS) is a familial disease associated with sudden cardiac death. A 20%-25% of BrS patients carry genetic defects that cause loss-of-function of the voltage-gated cardiac sodium channel. Thus, 70%-75% of patients remain without a genetic diagnosis. In this work, we identified a novel missense mutation (p.Asp211Gly) in the sodium β2 subunit encoded by SCN2B, in a woman diagnosed with BrS. We studied the sodium current (INa ) from cells coexpressing Nav 1.5 and wild-type (β2WT… CONTINUE READING
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