KCNQ1 gain-of-function mutation in familial atrial fibrillation.

@article{Chen2003KCNQ1GM,
  title={KCNQ1 gain-of-function mutation in familial atrial fibrillation.},
  author={Yihan Chen and Shi-jie Xu and Sa{\"i}d Bendahhou and Xiao-Liang Wang and Ying W{\'a}ng and Wen-yuan Xu and Hong-wei Jin and Hao Sun and Xiao-yan Su and Qi-Nan Zhuang and Yi-Qing Yang and Yue-bin Li and Yi Liu and H Xu and Xiao-Fei Li and Ning Ma and Chun-Ping Mou and Zhu Chen and Jacques Barhanin and Wei Huang},
  journal={Science},
  year={2003},
  volume={299 5604},
  pages={251-4}
}
Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular etiology is poorly understood. We studied a family with hereditary persistent AF and identified the causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome 11p15.5. The KCNQ1 gene encodes the pore-forming alpha subunit of the cardiac I(Ks) channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels. Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1… CONTINUE READING