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Select item 110830671.

Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families

María Gallego-Delgado, Anabel Cámara-Checa, Marcos Rubio-Alarcón, David Heredero-Jung, Laura de la Fuente-Blanco, Josu Rapún, Beatriz Plata-Izquierdo, Sara Pérez-Martín, Jorge Cebrián, Lucía Moreno de Redrojo, Belén García-Berrocal, Eva Delpón, Pedro L. Sánchez, Eduardo Villacorta, Ricardo Caballero

Int J Mol Sci. 2024 May; 25(9): 4686. Published online 2024 Apr 25. doi: 10.3390/ijms25094686

PMCID:: PMC11083067

Abstract Article PDF–3.3M

Select item 104740432.

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

Jesse B. Hayesmoore, Zahurul A. Bhuiyan, Domenico A. Coviello, Desirée du Sart, Matthew Edwards, Maria Iascone, Deborah J. Morris-Rosendahl, Katie Sheils, Marjon van Slegtenhorst, Kate L. Thomson

Eur J Hum Genet. 2023 Sep; 31(9): 1003–1009. Published online 2023 Jul 13. doi: 10.1038/s41431-023-01421-w

PMCID:: PMC10474043

Abstract Article PDF–620K

Select item 103970593.

Cold and warmth intensify pain-linked sodium channel gating effects and persistent currents

Sophia Kriegeskorte, Raya Bott, Martin Hampl, Alon Korngreen, Ralf Hausmann, Angelika Lampert

J Gen Physiol. 2023 Sep 4; 155(9): e202213312. Published online 2023 Aug 2. doi: 10.1085/jgp.202213312

PMCID:: PMC10397059

Abstract Article PDF–4.9M

Select item 102998964.

Beneficial effects of chronic mexiletine treatment in a human model of SCN5A overlap syndrome

Giovanna Nasilli, Loukia Yiangou, Chiara Palandri, Elisabetta Cerbai, Richard P Davis, Arie O Verkerk, Simona Casini, Carol Ann Remme

Europace. 2023 Jun; 25(6): euad154. Published online 2023 Jun 27. doi: 10.1093/europace/euad154

PMCID:: PMC10299896

Abstract Article PDF–1018K

Select item 102892355.

The Utility of Sodium Channel Provocation in Unexplained Cardiac Arrest Survivors and Electrocardiographic Predictors of Ventricular Fibrillation Recurrence

Bode Ensam, Christopher C. Cheung, Fahad Almehmadi, Bo Gregers Winkel, Chiara Scrocco, Paul Brennan, Kevin Leong, Alison Muir, Amanda Vanarva, Jacob Tfelt-Hansen, Jason D. Roberts, Andrew D. Krahn, Elijah R. Behr

Circ Arrhythm Electrophysiol. 2022 Dec; 15(12): e011263. Published online 2022 Nov 28. doi: 10.1161/CIRCEP.122.011263

PMCID:: PMC10289235

Abstract Article PDF–644K

Select item 102277626.

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

Abstract Article PDF–325K

Select item 102095187.

Inhibition of Wnt/β‐catenin signaling upregulates Na_v1.5 channels in Brugada syndrome iPSC‐derived cardiomyocytes

Aizhu Lu, Ruonan Gu, Cencen Chu, Ying Xia, Jerry Wang, Darryl R. Davis, Wenbin Liang

Physiol Rep. 2023 May; 11(10): e15696. Published online 2023 May 24. doi: 10.14814/phy2.15696

PMCID:: PMC10209518

Abstract Article PDF–9.7M

Select item 99923088.

Transcriptional dysregulation underlies both a monogenic arrhythmia syndrome and common modifier of cardiac repolarization

Kevin R. Bersell, Tao Yang, Jonathan D. Mosley, Andrew M. Glazer, Andrew T. Hale, Dmytro O. Kryshtal, Kyungsoo Kim, Jeffrey D. Steimle, Jonathan D. Brown, Joe-Elie Salem, Courtney C. Campbell, Charles C. Hong, Quinn S. Wells, Amanda N. Johnson, Laura Short, Marcia A. Blair, Elijah R. Behr, Evmorfia Petropoulou, Yalda Jamshidi, Mark D. Benson, Michelle J. Keyes, Debby Ngo, Ramachandran S. Vasan, Qiong Yang, Robert E. Gerszten, Christian Shaffer, Shan Parikh, Quanhu Sheng, Prince J. Kannankeril, Ivan P. Moskowitz, John D. York, Thomas J. Wang, Bjorn C. Knollmann, Dan M. Roden

Circulation. Author manuscript; available in PMC 2024 Mar 7.

Published in final edited form as: Circulation. 2023 Mar 7; 147(10): 824–840. Published online 2022 Dec 16. doi: 10.1161/CIRCULATIONAHA.122.062193

PMCID:: PMC9992308

Abstract Article PDF–2.9M

Select item 97682399.

Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome

Gan-Xiao Chen, Hector Barajas-Martínez, Giuseppe Ciconte, Cheng-I Wu, Michelle M. Monasky, Hao Xia, Bian Li, John A. Capra, Kai Guo, Zhong-He Zhang, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Chloe Miu Mak, Yoshiyasu Aizawa, Michael H. Gollob, Charles Antzelevitch, Arthur A.M. Wilde, Carlo Pappone, Dan Hu

eBioMedicine. 2023 Jan; 87: 104388. Published online 2022 Dec 12. doi: 10.1016/j.ebiom.2022.104388

PMCID:: PMC9768239

Abstract Article PDF–2.0M

Select item 969016910.

Minh-Tuan Huynh, Alexis Proust, Jérôme Bouligand, Elena Popescu

Genes (Basel) 2022 Nov; 13(11): 2167. Published online 2022 Nov 20. doi: 10.3390/genes13112167

PMCID:: PMC9690169

Abstract Article PDF–1.5M

Select item 965160311.

Genetic variants in Colombian patients with inherited cardiac conditions

Cynthia Rucinski, Luz Karime Yunis, Fernando Rosas, David Santacruz, Juan Manuel Camargo, Juan José Yunis

Mol Genet Genomic Med. 2022 Nov; 10(11): e2046. Published online 2022 Oct 6. doi: 10.1002/mgg3.2046

PMCID:: PMC9651603

Abstract Article PDF–598K

Select item 958849212.

Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3-Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes

Dan Ye, Wei Zhou, Samantha K. Hamrick, David J Tester, CS John Kim, Hector Barajas-Martinez, Dan Hu, John R. Giudicessi, Charles Antzelevitch, Michael J. Ackerman

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): e003238. Published online 2022 Jul 12. doi: 10.1161/CIRCGEN.120.003238

PMCID:: PMC9588492

Abstract Article PDF–1.9M

Select item 927276313.

Distinct Features of Patients with Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants

Zhong-He Zhang, Hector Barajas-Martínez, Hao Xia, Bian Li, John A. Capra, Jerome Clatot, Gan-Xiao Chen, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Yoshiyasu Aizawa, Michael H. Gollob, Melvin Scheinman, Charles Antzelevitch, Dan Hu

J Am Coll Cardiol. Author manuscript; available in PMC 2022 Oct 19.

Published in final edited form as: J Am Coll Cardiol. 2021 Oct 19; 78(16): 1603–1617. doi: 10.1016/j.jacc.2021.08.024

PMCID:: PMC9272763

Abstract Article PDF–2.1M

Select item 877438414.

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

Abstract Article PDF–8.9M

Select item 865790715.

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

Abstract Article PDF–3.0M

Select item 849580016.

Transcriptional profiles of genes related to electrophysiological function in Scn5a^+/− murine hearts

Michael Takla, Charlotte E. Edling, Kevin Zhang, Khalil Saadeh, Gary Tse, Samantha C. Salvage, Christopher L.‐H. Huang, Kamalan Jeevaratnam

Physiol Rep. 2021 Oct; 9(19): e15043. Published online 2021 Oct 7. doi: 10.14814/phy2.15043

PMCID:: PMC8495800

Abstract Article PDF–1.2M

Select item 817220917.

Identification of rare heterozygous linkage R965C‐R1309H mutations in the pore‐forming region of SCN5A gene associated with complex arrhythmia

Yubi Lin, Jiading Qin, Yuhui Shen, Jiana Huang, Zuoquan Zhang, ZhiLing Zhu, Huifang Lu, Yin Huang, Yuelan Yin, Ani Wang, Lizi Jin, Zhenyu Hu, Xiufang Lin, Bin Jiang

Mol Genet Genomic Med. 2021 May; 9(5): e1613. Published online 2021 Mar 25. doi: 10.1002/mgg3.1613

PMCID:: PMC8172209

Abstract Article PDF–2.4M

Select item 816415618.

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

Abstract Article PDF–855K

Select item 812515019.

Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

Michelle M. Monasky, Emanuele Micaglio, Giuseppe Ciconte, Ilaria Rivolta, Valeria Borrelli, Andrea Ghiroldi, Sara D’Imperio, Anna Binda, Dario Melgari, Sara Benedetti, Predrag Mitrovic, Luigi Anastasia, Valerio Mecarocci, Žarko Ćalović, Giorgio Casari, Carlo Pappone

Int J Mol Sci. 2021 May; 22(9): 4700. Published online 2021 Apr 29. doi: 10.3390/ijms22094700