The N588K-HERG K+ channel mutation in the 'short QT syndrome': mechanism of gain-in-function determined at 37 degrees C.

@article{McPate2005TheNK,
  title={The N588K-HERG K+ channel mutation in the 'short QT syndrome': mechanism of gain-in-function determined at 37 degrees C.},
  author={Mark J. McPate and R. Scot Duncan and James T Milnes and Harry J. Witchel and Jules C. Hancox},
  journal={Biochemical and biophysical research communications},
  year={2005},
  volume={334 2},
  pages={441-9}
}
The idiopathic short QT syndrome (SQTS) is characterised by an abnormally short QT interval on the electrocardiogram and by an increased risk of arrhythmia and sudden death. One variant of the syndrome is linked to missense mutations that lead to a single amino-acid change (N588K; asparagine to lysine) in the S5-Pore linker region of the cardiac HERG K(+) channel. This study was performed in order to determine how the N588K mutation alters HERG channel current (I(HERG)) kinetics at mammalian… CONTINUE READING

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