Research output per year
Research output per year
Personal profile
Research interests
• Translational studies into cardiac sodium channel (dys)function and inherited sodium channelopathies (including SCN5A mutations) associated with cardiac arrhythmias and sudden cardiac death, incorporating clinical and genetic with functional and mechanistic studies in transgenic models and human induced pluripotent stem cell-derived (iPSC) cardiomyocytes.
• Basic studies aimed at (1) unraveling mechanisms by which defective sodium channels mediate cardiac conduction slowing and arrhythmogenesis, (2) the complexity of sodium channel function and regulation, and (3) their diverse (non-electrogenic) roles in cardiac structure and function.
• Identification of novel (genetic) determinants, modifiers and pathways mediating cardiac electrophysiology and arrhythmia risk.
• Translational studies aimed at identifying novel targets for the prevention and treatment of cardiac arrhythmias and sudden cardiac death.
Specialisation
Basic and translational cardiac electrophysiology
External positions
Deputy Editor, Physiological Reviews
Deputy Editor, EP Europace
Associate Editor, Cardiovascular Research
Chair-Elect, Council on Basic Cardiovascular Science, European Society of Cardiology
Vice-President, Cardiac Electrophysiology Society
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Collaborations and top research areas from the last five years
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Ventricular hyperinnervation in a mouse model of catecholaminergic polymorphic ventricular tachycardia
O'Reilly, M., Remme, C. A., Casini, S. & de Waal, T. M., 2024, In: Cardiovascular Research.Research output: Contribution to journal › Article › Academic
Open AccessFile9 Downloads (Pure) -
Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs
Marchal, G. A., Jouni, M., Chiang, D. Y., Pérez-Hernández, M., Podliesna, S., Yu, N., Casini, S., Potet, F., Veerman, C. C., Klerk, M., Lodder, E. M., Mengarelli, I., Guan, K., Vanoye, C. G., Rothenberg, E., Charpentier, F., Redon, R., George, A. L., Verkerk, A. O. & Bezzina, C. R. & 6 others, , Jul 2021, In: Circulation research. 129, 3, p. 349-365 17 p.Research output: Contribution to journal › Article › Academic › peer-review
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
KORA-Study Group & Nantes Referral Center for inherited cardiac arrhythmia, 1 Mar 2022, In: Nature genetics. 54, 3, p. 232-239 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure) -
A common co-morbiditymodulates disease expression and treatment efficacy in inherited cardiac sodiumchannelopathy
Rivaud, M. R., Jansen, J. A., Postema, P. G., Nannenberg, E. A., Mizusawa, Y., van der Nagel, R., Wolswinkel, R., van der Made, I., Marchal, G. A., Rajamani, S., Belardinelli, L., van Tintelen, J. P., Tanck, M. W. T., van DerWal, A. C., de Bakker, J. M. T., van Rijen, H. V., Creemers, E. E., Wilde, A. A. M., van den Berg, M. P. & van Veen, T. A. B. & 2 others, , 2018, In: European heart journal. 39, 31, p. 2898-2907Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Chronically elevated branched chain amino acid levels are pro-arrhythmic
Portero, V., Nicol, T., Podliesna, S., Marchal, G. A., Baartscheer, A., Casini, S., Tadros, R., Treur, J. L., Tanck, M. W. T., Cox, I. J., Probert, F., Hough, T. A., Falcone, S., Beekman, L., Müller-Nurasyid, M., Kastenmüller, G., Gieger, C., Peters, A., Kääb, S. & Sinner, M. F. & 5 others, , 1 May 2022, In: Cardiovascular research. 118, 7, p. 1742-1757 16 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile11 Downloads (Pure)