P
Paul A. Brink
Researcher at Stellenbosch University
Publications - 79
Citations - 6180
Paul A. Brink is an academic researcher from Stellenbosch University. The author has contributed to research in topics: Long QT syndrome & QT interval. The author has an hindex of 30, co-authored 75 publications receiving 5785 citations. Previous affiliations of Paul A. Brink include Vanderbilt University Medical Center & University of Pavia.
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Journal ArticleDOI
Genotype-Phenotype Correlation in the Long-QT Syndrome Gene-Specific Triggers for Life-Threatening Arrhythmias
Peter J. Schwartz,Silvia G. Priori,Carla Spazzolini,Arthur J. Moss,G. Michael Vincent,Carlo Napolitano,Isabelle Denjoy,Pascale Guicheney,Günter Breithardt,Mark T. Keating,Jeffrey A. Towbin,Alan H. Beggs,Paul A. Brink,Arthur A.M. Wilde,Lauri Toivonen,Wojciech Zareba,Jennifer L. Robinson,Katherine W. Timothy,Valerie A. Corfield,Duangrurdee Wattanasirichaigoon,Clive Corbett,Wilhelm Haverkamp,Eric Schulze-Bahr,Michael H. Lehmann,Ketty Schwartz,Philippe Coumel,Raffaella Bloise +26 more
TL;DR: Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner, allowing new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene- specific approaches.
Journal ArticleDOI
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome.
Peter J. Schwartz,Silvia G. Priori,Marina Cerrone,Carla Spazzolini,Attilio Odero,Carlo Napolitano,Raffaella Bloise,Gaetano M. De Ferrari,Catherine Klersy,Arthur J. Moss,Wojciech Zareba,Jennifer L. Robinson,W. Jackson Hall,Paul A. Brink,Lauri Toivonen,Andrew E. Epstein,Cuilan Li,Dayi Hu +17 more
TL;DR: LCSD is associated with a significant reduction in the incidence of aborted cardiac arrest and syncope in high-risk LQTS patients when compared with pre-LCSD events, however, LCSD is not entirely effective in preventing cardiac events including sudden cardiac death during long-term follow-up.
Journal ArticleDOI
The genetic basis of long QT and short QT syndromes: a mutation update.
Paula L. Hedley,Paula L. Hedley,Poul Jørgensen,Poul Jørgensen,Sarah Schlamowitz,Romilda Wangari,Johanna C. Moolman-Smook,Paul A. Brink,Jørgen K. Kanters,Valerie A. Corfield,Michael Christiansen +10 more
TL;DR: The present mutation update is a comprehensive description of all known LQTS‐ and SQTS‐associated mutations.
Journal ArticleDOI
Sudden Death due to Troponin T Mutations
Johanna C Moolman,Valerie A. Corfield,Berthold M Posen,Kholiswa Ngumbela,Christine E. Seidman,Paul A. Brink,Hugh Watkins,Hugh Watkins +7 more
TL;DR: Data support the observation that apparently diverse cardiac troponin T gene mutations produce a consistent disease phenotype, and genotyping at this locus may be particularly informative in patient management and counselling.
Journal ArticleDOI
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I
Martin Kruse,Eric Schulze-Bahr,Valerie A. Corfield,Alf Beckmann,Birgit Stallmeyer,Guven Kurtbay,Iris Ohmert,E. Schulze-Bahr,Paul A. Brink,Olaf Pongs +9 more
TL;DR: Cellular expression studies revealed a gain-of-function mechanism underlying this type of familial heart block and identified the mutation c.19G-->A missense mutation attenuated deSUMOylation of the TRPM4 channel.