Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.

@article{Biliczki2008CellularPO,
  title={Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.},
  author={P{\'e}ter Biliczki and Zenawit Girmatsion and Sabine Harenkamp and Lars Anneken and Ralf Peter Brandes and Andr{\'a}s Varr{\'o} and Christoph Marschall and Daniel Herrera and Stefan H. Hohnloser and Stanley Nattel and Joachim R. Ehrlich},
  journal={Heart rhythm},
  year={2008},
  volume={5 8},
  pages={1159-67}
}
BACKGROUND C-terminal KCNH2 mutations are commonly associated with a more benign clinical presentation, but mutations localized in close proximity may exhibit different clinical and biophysical phenotypes. The value of detailed cellular characterization of such mutant channels in vitro has not been studied with respect to clinical risk stratification of affected patients. OBJECTIVE The purpose of this study was to study the cellular properties and clinical presentation of C-terminal KCNH2… CONTINUE READING

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The common longQT syndrome mutation KCNQ 1 / A 341 V causes unusually severe clinical manifestations in patients with different ethnic backgrounds : toward a mutationspecific risk stratification

L Crotti, C Spazzolini, PJ Schwartz
Circulation • 2007

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