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

doi:10.1053/j.gastro.2014.02.054

Article

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

Gastroenterology - 1 Jun 2014

Beyder Arthur, Mazzone Amelia, Strege Peter R, Tester David J, Saito Yuri A, Bernard Cheryl E, Enders Felicity T, Ek Weronica E, Schmidt Peter T, Dlugosz Aldona, Lindberg Greger, Karling Pontus, Ohlsson Bodil, Gazouli Maria, Nardone Gerardo, Cuomo Rosario, Usai-Satta Paolo, Galeazzi Francesca, Neri Matteo, Portincasa Piero, Bellini Massimo, Barbara Giovanni, Camilleri Michael, Locke G Richard, Talley Nicholas J, D'Amato Mauro, Ackerman Michael J, Farrugia Gianrico

Abstract excerpt

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 functi...

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