Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.

@article{Beyder2014LossoffunctionOT,
  title={Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.},
  author={Arthur Beyder and Amelia Mazzone and Peter R Strege and David Tester and Y A Saito and Cheryl E Bernard and Felicity T Enders and Weronica E. Ek and Peter Thelin Schmidt and Aldona Dlugosz and Greger Lindberg and Pontus Karling and Bodil Ohlsson and Maria Gazouli and Gerardo Nardone and Rosario Cuomo and Paolo Usai-Satta and Francesca Galeazzi and Matteo Neri and Piero Portincasa and Massimo Bellini and G Barbara and Michael Camilleri and G. Richard III Locke and Nicholas J Talley and Mauro D'Amato and Michael J. Ackerman and Gianrico Farrugia},
  journal={Gastroenterology},
  year={2014},
  volume={146 7},
  pages={1659-1668}
}
BACKGROUND & AIMS SCN5A encodes the α-subunit of the voltage-gated sodium channel NaV1.5. Many patients with cardiac arrhythmias caused by mutations in SCN5A also have symptoms of irritable bowel syndrome (IBS). We investigated whether patients with IBS have SCN5A variants that affect the function of NaV1.5. METHODS We performed genotype analysis of SCN5A in 584 persons with IBS and 1380 without IBS (controls). Mutant forms of SCN5A were expressed in human embryonic kidney-293 cells, and… CONTINUE READING
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