The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel

J Med Genet. 2004 May;41(5):e66. doi: 10.1136/jmg.2003.013300.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Line
  • Cells, Cultured
  • Electric Conductivity
  • Gene Frequency
  • Humans
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics*
  • Long QT Syndrome / physiopathology
  • Mutation, Missense*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Patch-Clamp Techniques
  • Polymorphism, Single-Stranded Conformational
  • Sodium Channels / genetics*
  • Sodium Channels / metabolism

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Sodium Channels