A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death

A Jervell, F Lange-Nielsen · American Heart Journal · 1957 · 1.6K citations

Medicine, Cardiology, Physiology +15

A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN.

Ward Oc · PubMed · 1964 · 832 citations

Medicine, Cardiology, Pediatrics +10

Low Penetrance in the Long-QT Syndrome

Silvia G. Priori, Carlo Napolitano, Peter J. Schwartz · Circulation · 1999 · 814 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Jamie D. Kapplinger, David J. Tester, Mariëlle Alders et al. · Heart Rhythm · 2009 · 764 citations

Life Sciences, Cardiology, Genetics +16

Genetic Testing for Long-QT Syndrome

Suraj Kapa, David J. Tester, Benjamin A. Salisbury et al. · Circulation · 2009 · 351 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17