Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.

@article{Gao2013InhibitionOL,
  title={Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.},
  author={Yuanfeng Gao and Xiaolin Xue and Da-yi Hu and Wenling Liu and Yue Yuan and Hongmei Sun and Lei Li and Katherine W. Timothy and Li Zhang and Cui-Lan Li and Gan-xin Yan},
  journal={Circulation. Arrhythmia and electrophysiology},
  year={2013},
  volume={6 3},
  pages={614-22}
}
BACKGROUND Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). Management of TS is a challenge and prognosis is poor. This study aimed to explore the inheritance pattern and mechanism of an INa blocker, mexiletine, to improve clinical manifestations in TS. METHODS AND RESULTS A 2-year-old Chinese girl with a typical TS1 phenotype underwent candidate gene screening. Qualitative and quantitative cloning sequence… CONTINUE READING

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Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

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