C
Connie R. Bezzina
Researcher at University of Amsterdam
Publications - 237
Citations - 15980
Connie R. Bezzina is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Brugada syndrome & Population. The author has an hindex of 63, co-authored 216 publications receiving 13575 citations. Previous affiliations of Connie R. Bezzina include University of Groningen & University of Pavia.
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Journal ArticleDOI
A Single Na+ Channel Mutation Causing Both Long-QT and Brugada Syndromes
Connie R. Bezzina,Marieke W. Veldkamp,van den Maarten Berg,Alex V. Postma,M. B. Rook,JW Viersma,van Irene Langen,G Tan-Sindhunata,Mte Bink-Boelkens,AH van der Hout,M.M.A.M. (Marcel) Mannens,Aam Wilde +11 more
TL;DR: Examination of wild-type and mutant Na(+) channels in Xenopus oocytes revealed that the 1795insD mutation gives rise to a 7.3-mV negative shift of the steady-state inactivation curve and an 8.1- mV positive shift ofThe steady- state activation curve, likely to be a reduced Na(+) current during the upstroke of the action potential.
Journal ArticleDOI
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Connie R. Bezzina,Julien Barc,Yuka Mizusawa,Carol Ann Remme,Jean-Baptiste Gourraud,Floriane Simonet,Floriane Simonet,Floriane Simonet,Arie O. Verkerk,Peter J. Schwartz,Lia Crotti,Federica Dagradi,Pascale Guicheney,Pascale Guicheney,Véronique Fressart,Véronique Fressart,Antoine Leenhardt,Antoine Leenhardt,Charles Antzelevitch,Susan Bartkowiak,Martin Borggrefe,Rainer Schimpf,Eric Schulze-Bahr,Sven Zumhagen,Elijah R. Behr,Rachel Bastiaenen,Jacob Tfelt-Hansen,Jacob Tfelt-Hansen,Morten S. Olesen,Morten S. Olesen,Stefan Kääb,Britt M. Beckmann,Peter Weeke,Hiroshi Watanabe,Naoto Endo,Tohru Minamino,Minoru Horie,Seiko Ohno,Kanae Hasegawa,Naomasa Makita,Akihiko Nogami,Wataru Shimizu,Takeshi Aiba,Philippe Froguel,Philippe Froguel,Philippe Froguel,Beverley Balkau,Beverley Balkau,Olivier Lantieri,Margherita Torchio,Cornelia Wiese,David Weber,Rianne Wolswinkel,Ruben Coronel,Bas J. Boukens,Stéphane Bézieau,Eric Charpentier,Eric Charpentier,Eric Charpentier,Stéphanie Chatel,Aurore Despres,Françoise Gros,Françoise Gros,Françoise Gros,Florence Kyndt,Simon Lecointe,Pierre Lindenbaum,Vincent Portero,Vincent Portero,Vincent Portero,Jade Violleau,Manfred Gessler,Hanno L. Tan,Dan M. Roden,Vincent M. Christoffels,Hervé Le Marec,Arthur A.M. Wilde,Vincent Probst,Jean-Jacques Schott,Christian Dina,Richard Redon +80 more
TL;DR: The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia and indicate that common genetic variation can have a strong impact on the predisposition to rare diseases.
Journal ArticleDOI
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
Hiroshi Watanabe,Hiroshi Watanabe,Tamara T. Koopmann,Solena Le Scouarnec,Solena Le Scouarnec,Solena Le Scouarnec,Tao Yang,Christiana R. Ingram,Jean-Jacques Schott,Sophie Demolombe,Sophie Demolombe,Sophie Demolombe,Vincent Probst,Frédeéric Anselme,Denis Escande,Ans C.P. Wiesfeld,Arne Pfeufer,Stefan Kääb,H.-Erich Wichmann,Can Hasdemir,Yoshifusa Aizawa,Arthur A.M. Wilde,Dan M. Roden,Connie R. Bezzina +23 more
TL;DR: Findings implicate SCN1B as a disease gene for human arrhythmia susceptibility, which encodes the function-modifying sodium channel beta1 subunit, in 282 probands with Brugada syndrome and in 44 patients with conduction disease, none of whom had SCN5A mutations.
Journal ArticleDOI
Right Ventricular Fibrosis and Conduction Delay in a Patient With Clinical Signs of Brugada Syndrome A Combined Electrophysiological, Genetic, Histopathologic, and Computational Study
Ruben Coronel,Simona Casini,Tamara T. Koopmann,Francien J.G. Wilms-Schopman,Arie O. Verkerk,Joris R. de Groot,Zahurul A. Bhuiyan,Connie R. Bezzina,Marieke W. Veldkamp,André C. Linnenbank,Allard C. van der Wal,Hanno L. Tan,Pedro Brugada,Arthur A.M. Wilde,Jacques M.T. de Bakker +14 more
TL;DR: In this patient with BS, conduction slowing based on interstitial fibrosis, but not transmural repolarization differences, caused the ECG signs and was the origin of ventricular fibrillation.
Journal ArticleDOI
A sodium-channel mutation causes isolated cardiac conduction disease
Hanno L. Tan,Margreet Th.E. Bink-Boelkens,Connie R. Bezzina,Prakash C. Viswanathan,Gertie C. M. Beaufort-Krol,Peter van Tintelen,Maarten P. van den Berg,Arthur A.M. Wilde,Jeffrey R. Balser +8 more
TL;DR: This work provides the first functional characterization of an SCN5A mutation that causes a sustained, isolated conduction defect with pathological slowing of the cardiac rhythm, and predicts that the gating defects of G514C selectively slow myocardial conduction, but do not provoke the rapid cardiac arrhythmias associated previously with SCN 5A mutations.