Concepedia

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

Elena Burashnikov, Ryan Pfeiffer, Héctor Barajas-Martínez, Eva Delpón, Dan Hu, Mayurika Desai, Martin Borggrefe, Michel Haı̈ssaguerre, Ronald J. Kanter, Guido D. Pollevick,

Heart Rhythm · 2010 · 431 citations · 30 references

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30

CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism

Igor Splawski, Katherine W. Timothy, Leah M. Sharpe et al. · Cell · 2004 · 1.6K citations · Full text

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Sudden Cardiac Arrest Associated with Early Repolarization

Michel Haı̈ssaguerre, Nicolas Derval, Frédéric Sacher et al. · New England Journal of Medicine · 2008 · 1.5K citations · Full text

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Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

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Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

Charles Antzelevitch, Guido D. Pollevick, Jonathan M. Cordeiro et al. · Circulation · 2007 · 935 citations · Full text

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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

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