Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

@article{Burashnikov2010MutationsIT,
  title={Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.},
  author={Elena Burashnikov and Ryan Pfeiffer and Hector M Barajas-Mart{\'i}nez and Eva Delp{\'o}n and Dan Hu and Mayurika Desai and Martin Borggrefe and Michel H{\"a}issaguerre and Ronald Kanter and Guido D. Pollevick and Alejandra Guerchicoff and Rub{\'e}n Lai{\~n}o and Mark A Marieb and Koonlawee Nademanee and Gi-Byoung Nam and R. M. Robles and Rainer Schimpf and Dwight D. Stapleton and Sami Viskin and Stephen Winters and Christian Wolpert and Samuel Zimmern and Christian Veltmann and Charles Antzelevitch},
  journal={Heart rhythm},
  year={2010},
  volume={7 12},
  pages={1872-82}
}
BACKGROUND L-type calcium channel (LTCC) mutations have been associated with Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is known about the extent to which LTCC mutations contribute to the J-wave syndromes associated with sudden cardiac death. OBJECTIVE The purpose of this study was to identify mutations in the α1, β2, and α2δ subunits of LTCC (Ca(v)1.2) among 205 probands diagnosed with BrS, idiopathic ventricular fibrillation (IVF), and early… CONTINUE READING
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A worldwide compendium of putative Brugada syndrome associated mutations in the SCN5A encoded cardiac sodium

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