Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

Rou-Mu Hua Department of Cardiology, Heart Center & Beijing Key Laboratory of Hypertension, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China;b Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USAView further author information

Evelyn J. Songc Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USAView further author information

David J. Testerd Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USAView further author information

Isabelle Deschenese Department of Physiology and Cell Biology, The Dorothy M. Davis Heart and Lung Research Institute, Frick Center for Heart Failure and Arrhythmia, the Ohio State University, Columbus, OH, USAView further author information

Michael J. Ackermand Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USAView further author information

Jonathan C. Makielskib Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USAView further author information

Bi-Hua Tanb Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA;e Department of Physiology and Cell Biology, The Dorothy M. Davis Heart and Lung Research Institute, Frick Center for Heart Failure and Arrhythmia, the Ohio State University, Columbus, OH, USACorrespondence[email protected]
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Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

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Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

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