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Select item 102277621.

Genetic testing in children with Brugada syndrome: results from a large prospective registry

Luigi Pannone, Antonio Bisignani, Randy Osei, Anaïs Gauthey, Antonio Sorgente, Pasquale Vergara, Cinzia Monaco, Domenico Giovanni Della Rocca, Alvise Del Monte, Antanas Strazdas, Joerelle Mojica, Maysam Al Housari, Vincenzo Miraglia, Sahar Mouram, Gaetano Paparella, Robbert Ramak, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Ströker, Gudrun Pappaert, Juan Sieira, Thomy de Ravel, Mark La Meir, Pedro Brugada, Gian Battista Chierchia, Sonia Van Dooren, Carlo de Asmundis

Europace. 2023 May; 25(5): euad079. Published online 2023 Apr 16. doi: 10.1093/europace/euad079

PMCID:: PMC10227762

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Select item 99159202.

The Antidepressant Paroxetine Reduces the Cardiac Sodium Current

Ingmar S. Plijter, Arie O. Verkerk, Ronald Wilders

Int J Mol Sci. 2023 Feb; 24(3): 1904. Published online 2023 Jan 18. doi: 10.3390/ijms24031904

PMCID:: PMC9915920

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Select item 95887083.

Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records with Genetics

Navid A. Nafissi, Jawan W. Abdulrahim, Lydia Coulter Kwee, Amanda C. Coniglio, William E. Kraus, Jonathan P. Piccini, James P. Daubert, Albert Y. Sun, Svati H. Shah

Circ Genom Precis Med. Author manuscript; available in PMC 2023 Oct 1.

Published in final edited form as: Circ Genom Precis Med. 2022 Oct; 15(5): e003675. Published online 2022 Sep 22. doi: 10.1161/CIRCGEN.121.003675

PMCID:: PMC9588708

Article PubReader PDF–641K Cite

Select item 91482664.

Frequency of Irritable Bowel Syndrome in Patients with Brugada Syndrome and Drug-Induced Type 1 Brugada Pattern

Anil S. Sarica, Serhat Bor, Mehmet N. Orman, Hector Barajas-Martinez, Jyh-Ming Jimmy Juang, Charles Antzelevitch, Can Hasdemir

Am J Cardiol. Author manuscript; available in PMC 2022 Jul 15.

Published in final edited form as: Am J Cardiol. 2021 Jul 15; 151: 51–56. Published online 2021 May 24. doi: 10.1016/j.amjcard.2021.04.010

PMCID:: PMC9148266

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Select item 90283385.

Absolute Quantification of Nav1.5 Expression by Targeted Mass Spectrometry

Sarah L. Adams, Ge Chang, Mohamed A. Fouda, Sharwan Kumar, Bingyun Sun

Int J Mol Sci. 2022 Apr; 23(8): 4177. Published online 2022 Apr 10. doi: 10.3390/ijms23084177

PMCID:: PMC9028338

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Select item 87781386.

The Role of Mitochondrial DNA Mutations in Cardiovascular Diseases

Siarhei A. Dabravolski, Victoria A. Khotina, Vasily N. Sukhorukov, Vladislav A. Kalmykov, Liudmila M. Mikhaleva, Alexander N. Orekhov

Int J Mol Sci. 2022 Jan; 23(2): 952. Published online 2022 Jan 16. doi: 10.3390/ijms23020952

PMCID:: PMC8778138

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Select item 87743847.

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts

Teresa Villarreal-Molina, Gabriela Paola García-Ordóñez, Álvaro E. Reyes-Quintero, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Santiago Nava, Alessandra Carnevale, Argelia Medeiros-Domingo, Pedro Iturralde

Genes (Basel) 2022 Jan; 13(1): 16. Published online 2021 Dec 22. doi: 10.3390/genes13010016

PMCID:: PMC8774384

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Select item 87430028.

Common variants in SCN10A gene associated with Brugada syndrome

Yan Huang, Xiao-Meng Chen, Hector Barajas-Martinez, Hong Jiang, Charles Antzelevitch, Dan Hu

Hum Mol Genet. 2022 Jan 15; 31(2): 157–165. Published online 2021 Jul 26. doi: 10.1093/hmg/ddab217

PMCID:: PMC8743002

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Select item 86579079.

Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (I_Na)

Marcos Rubio-Alarcón, Anabel Cámara-Checa, María Dago, Teresa Crespo-García, Paloma Nieto-Marín, María Marín, José Luis Merino, Jorge Toquero, Rafael Salguero-Bodes, Juan Tamargo, Jorge Cebrián, Eva Delpón, Ricardo Caballero

Int J Mol Sci. 2021 Dec; 22(23): 13031. Published online 2021 Dec 2. doi: 10.3390/ijms222313031

PMCID:: PMC8657907

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Select item 828316510.

The brain–heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention

Giorgio Costagliola, Alessandro Orsini, Monica Coll, Ramon Brugada, Pasquale Parisi, Pasquale Striano

Ann Clin Transl Neurol. 2021 Jul; 8(7): 1557–1568. Published online 2021 May 28. doi: 10.1002/acn3.51382

PMCID:: PMC8283165

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Select item 816415611.

Reduced current density, partially rescued by mexiletine, and depolarizing shift in activation of SCN5A W374G channels as a cause of severe form of Brugada syndrome

Tadashi Nakajima, Tommy Dharmawan, Reika Kawabata‐Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Masaki Ota, Shoichi Tange, Masahiko Nishiyama, Yoshiaki Kaneko, Masahiko Kurabayashi

Ann Noninvasive Electrocardiol. 2021 May; 26(3): e12828. Published online 2021 Jan 19. doi: 10.1111/anec.12828

PMCID:: PMC8164156

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Select item 806912412.

Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes

Tadashi Nakajima, Shuntaro Tamura, Masahiko Kurabayashi, Yoshiaki Kaneko

Int J Mol Sci. 2021 Apr; 22(8): 3930. Published online 2021 Apr 10. doi: 10.3390/ijms22083930

PMCID:: PMC8069124

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Select item 779074413.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Roddy Walsh, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter G. Postema, Ahmad S. Amin, Eline A. Nannenberg, James S. Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M. Beckmann, Stéphane Bézieau, J. Martijn Bos, Jeroen Breckpot, Oscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick T. Ellinor, Cristina Gil Ortuño, Carla Giustetto, Jean-Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen K. Kanters, Hiroki Kimoto, Maria-Christina Kotta, Ingrid P. C. Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L. Loeys, Catarina Lundin, Takeru Makiyama, Jacques Mansourati, Raphaël P. Martins, Andrea Mazzanti, Stellan Mörner, Carlo Napolitano, Kimie Ohkubo, Michael Papadakis, Boris Rudic, Maria Sabater Molina, Frédéric Sacher, Hatice Sahin, Georgia Sarquella-Brugada, Regina Sebastiano, Sanjay Sharma, Mary N. Sheppard, Keiko Shimamoto, M. Benjamin Shoemaker, Birgit Stallmeyer, Johannes Steinfurt, Yuji Tanaka, David J. Tester, Keisuke Usuda, Paul A. van der Zwaag, Sonia Van Dooren, Lut Van Laer, Annika Winbo, Bo G. Winkel, Kenichiro Yamagata, Sven Zumhagen, Paul G. A. Volders, Steven A. Lubitz, Charles Antzelevitch, Pyotr G. Platonov, Katja E. Odening, Dan M. Roden, Jason D. Roberts, Jonathan R. Skinner, Jacob Tfelt-Hansen, Maarten P. van den Berg, Morten S. Olesen, Pier D. Lambiase, Martin Borggrefe, Kenshi Hayashi, Annika Rydberg, Tadashi Nakajima, Masao Yoshinaga, Johan B. Saenen, Stefan Kääb, Pedro Brugada, Tomas Robyns, Daniela F. Giachino, Michael J. Ackerman, Ramon Brugada, Josep Brugada, Juan R. Gimeno, Can Hasdemir, Pascale Guicheney, Silvia G. Priori, Eric Schulze-Bahr, Naomasa Makita, Peter J. Schwartz, Wataru Shimizu, Takeshi Aiba, Jean-Jacques Schott, Richard Redon, Seiko Ohno, Vincent Probst, Nantes Referral Center for inherited cardiac arrhythmia, Elijah R. Behr, Julien Barc, Connie R. Bezzina

Genet Med. 2021; 23(1): 47–58. Published online 2020 Sep 7. doi: 10.1038/s41436-020-00946-5

PMCID:: PMC7790744

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Select item 753928914.

Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Anneline S. J. M. te Riele, Cynthia A. James, Brittney Murray, Crystal Tichnell, Nuria Amat-Alarcon, Kathleen Burks, Harikrishna Tandri, Hugh Calkins, Michael Polydefkis, Daniel P. Judge

J Cardiovasc Transl Res. Author manuscript; available in PMC 2020 Oct 7.

Published in final edited form as: J Cardiovasc Transl Res. 2016 Feb; 9(1): 87–89. Published online 2016 Jan 5. doi: 10.1007/s12265-015-9670-0

PMCID:: PMC7539289

Article PubReader PDF–54K Cite

Select item 743993215.

Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry

Jyh-Ming Jimmy Juang, Yen-Bin Liu, Ching-Yu Julius Chen, Qi-You Yu, Amrita Chattopadhyay, Lian-Yu Lin, Wen-Jone Chen, Chih-Chien Yu, Hui-Chun Huang, Li-Ting Ho, Ling-Ping Lai, Juey-Jen Hwang, Ting-Tse Lin, Min-Tsun Liao, Jien-Jiun Chen, Shih-Fan Sherri Yeh, Jing-Yuan Chuang, Dun-Hui Yang, Jiunn-Lee Lin, Tzu-Pin Lu, Eric Y. Chuang, Michael J. Ackerman

Circ Genom Precis Med. 2020 Aug; 13(4): e002797. Published online 2020 Jun 3. doi: 10.1161/CIRCGEN.119.002797

PMCID:: PMC7439932

Article PubReader PDF–564K Cite

Select item 740250816.

Modifications of sodium channel voltage dependence induce arrhythmia-favouring dynamics of cardiac action potentials

Pia Rose, Jan-Hendrik Schleimer, Susanne Schreiber

PLoS One. 2020; 15(8): e0236949. Published online 2020 Aug 4. doi: 10.1371/journal.pone.0236949

PMCID:: PMC7402508

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Select item 738253117.

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Najim Lahrouchi, Rafik Tadros, Lia Crotti, Yuka Mizusawa, Pieter G. Postema, Leander Beekman, Roddy Walsh, Kanae Hasegawa, Julien Barc, Marko Ernsting, Kari L. Turkowski, Andrea Mazzanti, Britt M. Beckmann, Keiko Shimamoto, Ulla-Britt Diamant, Yanushi D. Wijeyeratne, Yu Kucho, Tomas Robyns, Taisuke Ishikawa, Elena Arbelo, Michael Christiansen, Annika Winbo, Reza Jabbari, Steven A. Lubitz, Johannes Steinfurt, Boris Rudic, Bart Loeys, M. Ben Shoemaker, Peter E. Weeke, Ryan Pfeiffer, Brianna Davies, Antoine Andorin, Nynke Hofman, Federica Dagradi, Matteo Pedrazzini, David J. Tester, J. Martijn Bos, Georgia Sarquella-Brugada, Óscar Campuzano, Pyotr G. Platonov, Birgit Stallmeyer, Sven Zumhagen, Eline A. Nannenberg, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, Peter M. Andersen, Martina Müller-Nurasyid, Daniele Cusi, Cristina Barlassina, Pilar Galan, Mark Lathrop, Markus Munter, Thomas Werge, Marta Ribasés, Tin Aung, Chiea C. Khor, Mineo Ozaki, Peter Lichtner, Thomas Meitinger, J. Peter van Tintelen, Yvonne Hoedemaekers, Isabelle Denjoy, Antoine Leenhardt, Carlo Napolitano, Wataru Shimizu, Jean-Jacques Schott, Jean-Baptiste Gourraud, Takeru Makiyama, Seiko Ohno, Hideki Itoh, Andrew D. Krahn, Charles Antzelevitch, Dan M. Roden, Johan Saenen, Martin Borggrefe, Katja E. Odening, Patrick T. Ellinor, Jacob Tfelt-Hansen, Jonathan R. Skinner, Maarten P. van den Berg, Morten Salling Olesen, Josep Brugada, Ramón Brugada, Naomasa Makita, Jeroen Breckpot, Masao Yoshinaga, Elijah R. Behr, Annika Rydberg, Takeshi Aiba, Stefan Kääb, Silvia G. Priori, Pascale Guicheney, Hanno L. Tan, Christopher Newton-Cheh, Michael J. Ackerman, Peter J. Schwartz, Eric Schulze-Bahr, Vincent Probst, Minoru Horie, Arthur A. Wilde, Michael W.T. Tanck, Connie R. Bezzina

Circulation. 2020 Jul 28; 142(4): 324–338. Published online 2020 May 20. doi: 10.1161/CIRCULATIONAHA.120.045956

Correction in:: Circulation. 2020 Jul 28; 142(4): e66.

PMCID:: PMC7382531

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Select item 734136018.

GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death

Jyh-Ming Jimmy Juang, Anna Binda, Shyh-Jye Lee, Juey-Jen Hwang, Wen-Jone Chen, Yen-Bin Liu, Lian-Yu Lin, Chih-Chieh Yu, Li-Ting Ho, Hui-Chun Huang, Ching-Yu Julius Chen, Tzu-Pin Lu, Liang-Chuan Lai, Shih-Fan Sherri Yeh, Ling-Ping Lai, Eric Y. Chuang, Ilaria Rivolta, Charles Antzelevitch

EBioMedicine. 2020 Jul; 57: 102843. Published online 2020 Jul 7. doi: 10.1016/j.ebiom.2020.102843

Correction in:: EBioMedicine. 2021 Apr; 66: 103295.

PMCID:: PMC7341360

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Select item 713254319.

Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy

Gherardo Finocchiaro, Harshil Dhutia, Belinda Gray, Bode Ensam, Stathis Papatheodorou, Chris Miles, Aneil Malhotra, Zeph Fanton, Paulo Bulleros, Tessa Homfray, Adam A Witney, Nicholas Bunce, Lisa J Anderson, James S Ware, Rajan Sharma, Maite Tome, Elijah R Behr, Mary N Sheppard, Michael Papadakis, Sanjay Sharma

Europace. 2020 Apr; 22(4): 632–642. Published online 2020 Feb 3. doi: 10.1093/europace/euaa012

PMCID:: PMC7132543

Article PubReader PDF–778K Cite

Select item 703104020.

Deep Mutational Scan of an SCN5A Voltage Sensor

Andrew M. Glazer, Brett M. Kroncke, Kenneth A. Matreyek, Tao Yang, Yuko Wada, Tiffany Shields, Joe-Elie Salem, Douglas M. Fowler, Dan M. Roden

Circ Genom Precis Med. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Circ Genom Precis Med. 2020 Feb; 13(1): e002786. Published online 2020 Jan 12. doi: 10.1161/CIRCGEN.119.002786

PMCID:: PMC7031040

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