A single Na(+) channel mutation causing both long-QT and Brugada syndromes.

@article{Bezzina1999ASN,
  title={A single Na(+) channel mutation causing both long-QT and Brugada syndromes.},
  author={Connie R. Bezzina and Marieke W. Veldkamp and Maarten P. van den Berg and Alex Vincent Postma and Martin B. Rook and Jan Willem Viersma and Irene Marijke Van Langen and Ghita Tan-Sindhunata and Margreet Th. E. Bink-Boelkens and Annemarie H. van der Hout and Marcel M. A. M. Mannens and Arthur A. M. Wilde},
  journal={Circulation research},
  year={1999},
  volume={85 12},
  pages={1206-13}
}
Mutations in SCN5A, the gene encoding the cardiac Na(+) channel, have been identified in 2 distinct diseases associated with sudden death: one form of the long-QT syndrome (LQT(3)) and the Brugada syndrome. We have screened SCN5A in a large 8-generation kindred characterized by a high incidence of nocturnal sudden death, and QT-interval prolongation and the "Brugada ECG" occurring in the same subjects. An insertion of 3 nucleotides (TGA) at position 5537, predicted to cause an insertion of… CONTINUE READING
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