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Select item 92624181.

Dominant negative effects of SCN5A missense variants

Matthew J. O’Neill, Ayesha Muhammad, Bian Li, Yuko Wada, Lynn Hall, Joseph F. Solus, Laura Short, Dan M. Roden, Andrew M. Glazer

Genet Med. Author manuscript; available in PMC 2022 Jul 7.

Published in final edited form as: Genet Med. 2022 Jun; 24(6): 1238–1248. Published online 2022 Mar 16. doi: 10.1016/j.gim.2022.02.010

PMCID:: PMC9262418

Article PDF–783K

Select item 48310192.

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W. Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S. Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P. Takahashi, Nicolas Charlet-Berguerand

Nat Commun. 2016; 7: 11067. Published online 2016 Apr 11. doi: 10.1038/ncomms11067

PMCID:: PMC4831019

Article PDF–3.0M

Select item 42712193.

Human Macrophage SCN5A Activates an Innate Immune Signaling Pathway for Antiviral Host Defense

Alexis Jones, Danielle Kainz, Faatima Khan, Cara Lee, Michael D. Carrithers

J Biol Chem. 2014 Dec 19; 289(51): 35326–35340. Published online 2014 Nov 3. doi: 10.1074/jbc.M114.611962

PMCID:: PMC4271219

Article PDF–2.9M

Select item 30262824.

SCN5A Rare Variants in Familial Dilated Cardiomyopathy Decrease Peak Sodium Current Depending on the Common Polymorphism H558R and Common Splice Variant Q1077del

Jianding Cheng, Ana Morales, Jill D. Siegfried, Duanxiang Li, Nadine Norton, Junyao Song, Jorge Gonzalez‐Quintana, Jonathan C. Makielski, Ray E. Hershberger

Clin Transl Sci. 2010 Dec; 3(6): 287–294. Published online 2010 Dec 17. doi: 10.1111/j.1752-8062.2010.00249.x

PMCID:: PMC3026282

Article PDF–5.0M

Select item 26339215.

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

Ray E. Hershberger, Sharie B. Parks, Jessica D. Kushner, Duanxiang Li, Susan Ludwigsen, Petra Jakobs, Deirdre Nauman, Donna Burgess, Julie Partain, Michael Litt

Clin Transl Sci. 2008 May; 1(1): 21–26. Published online 2008 May 21. doi: 10.1111/j.1752-8062.2008.00017.x

PMCID:: PMC2633921

Article PDF–932K

Select item 25750426.

Lidocaine-Induced Brugada Syndrome Phenotype Linked to a Novel Double Mutation in the Cardiac Sodium Channel

Hector M. Barajas-Martínez, Dan Hu, Jonathan M. Cordeiro, Yuesheng Wu, Richard J. Kovacs, Henry Meltser, Hong Kui, Burashnikov Elena, Ramon Brugada, Charles Antzelevitch, Robert Dumaine

Circ Res. Author manuscript; available in PMC 2009 Aug 15.

Published in final edited form as: Circ Res. 2008 Aug 15; 103(4): 396–404. Published online 2008 Jul 3. doi: 10.1161/CIRCRESAHA.108.172619

PMCID:: PMC2575042

Article PDF–700K

Select item 25631727.

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

Dau‐Ming Niu, Betau Hwang, Han‐Wei Hwang, Nana H Wang, Jer‐Yuarn Wu, Pi‐Chang Lee, Jen‐Chung Chien, Ru‐Chi Shieh

J Med Genet. 2006 Oct; 43(10): 817–821. Published online 2006 May 17. doi: 10.1136/jmg.2006.042192

PMCID:: PMC2563172

Article PDF–394K

Select item 23657618.

Cardiac Sodium Channel (SCN5A) Variants Associated with Atrial Fibrillation

Dawood Darbar, Prince J Kannankeril, Brian S Donahue, Gayle Kucera, Tanya Stubblefield, Jonathan Haines, Alfred L George, Jr, Dan M Roden

Circulation. Author manuscript; available in PMC 2008 May 2.

Published in final edited form as: Circulation. 2008 Apr 15; 117(15): 1927–1935. Published online 2008 Mar 31. doi: 10.1161/CIRCULATIONAHA.107.757955

PMCID:: PMC2365761

Article PDF–834K

Select item 23504319.

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

Naomasa Makita, Elijah Behr, Wataru Shimizu, Minoru Horie, Akihiko Sunami, Lia Crotti, Eric Schulze-Bahr, Shigetomo Fukuhara, Naoki Mochizuki, Takeru Makiyama, Hideki Itoh, Michael Christiansen, Pascal McKeown, Koji Miyamoto, Shiro Kamakura, Hiroyuki Tsutsui, Peter J. Schwartz, Alfred L. George, Jr., Dan M. Roden

J Clin Invest. 2008 Jun 2; 118(6): 2219–2229. Published online 2008 May 1. doi: 10.1172/JCI34057

PMCID:: PMC2350431

Article PDF–1.1M

Select item 203989710.

Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation

Timothy M. Olson, Virginia V. Michels, Jeffrey D. Ballew, Sandra P. Reyna, Margaret L. Karst, Kathleen J. Herron, Steven C. Horton, Richard J. Rodeheffer, Jeffrey L. Anderson

JAMA. Author manuscript; available in PMC 2007 Oct 22.

Published in final edited form as: JAMA. 2005 Jan 26; 293(4): 447–454. doi: 10.1001/jama.293.4.447

PMCID:: PMC2039897

Article PDF–2.4M

Select item 199727911.

Na⁺ Channel Mutation That Causes Both Brugada and Long-QT Syndrome Phenotypes: A Simulation Study of Mechanism

Colleen E. Clancy, Yoram Rudy

Circulation. Author manuscript; available in PMC 2007 Oct 1.

Published in final edited form as: Circulation. 2002 Mar 12; 105(10): 1208–1213. doi: 10.1161/hc1002.105183

PMCID:: PMC1997279

Article PDF–410K

Select item 173599112.

R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese

H Hwang, J Chen, Y Lin, R Shieh, M Lee, S Hung, J Wu, Y Chen, D Niu, B Hwang

J Med Genet. 2005 Feb; 42(2): e7. doi: 10.1136/jmg.2004.027995

PMCID:: PMC1735991

Summary PDF–45K

Select item 161887813.

The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel

Q Wang, S Chen, Q Chen, X Wan, J Shen, G Hoeltge, A Timur, M Keating, G Kirsch

J Med Genet. 2004 May; 41(5): e66. doi: 10.1136/jmg.2003.013300

PMCID:: PMC1618878

Summary PDF–532K

Select item 157986014.

SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family

S Chen, M Chung, D Martin, R Rozich, P Tchou, Q Wang

J Med Genet. 2002 Dec; 39(12): 913–915. doi: 10.1136/jmg.39.12.913

PMCID:: PMC1579860

Summary PDF–123K

Select item 135904515.

A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y

Leigh D. Plant, Peter N. Bowers, Qianyong Liu, Thomas Morgan, Tingting Zhang, Matthew W. State, Weidong Chen, Rick A. Kittles, Steve A.N. Goldstein

J Clin Invest. 2006 Feb 1; 116(2): 430–435. doi: 10.1172/JCI25618

PMCID:: PMC1359045

Article PDF–659K

Select item 130650316.

Familial Automaticity-Conduction Disorder With Associated Cardiomyopathy

Patricia Roberts Greenlee, Jeffrey L. Anderson, Joan R. Lutz, Alan E. Lindsay, Arthur D. Hagan

West J Med. 1986 Jan; 144(1): 33–41.

PMCID:: PMC1306503

Summary Page Browse PDF–2.9M

Select item 53601117.

Na_v1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Na_v1.5 on the surface of cardiomyocytes

Peter J. Mohler, Ilaria Rivolta, Carlo Napolitano, Guy LeMaillet, Stephen Lambert, Silvia G. Priori, Vann Bennett

Proc Natl Acad Sci U S A. 2004 Dec 14; 101(50): 17533–17538. Published online 2004 Dec 3. doi: 10.1073/pnas.0403711101

PMCID:: PMC536011

Article PDF–721K

Select item 50799218.

Pharmacological targeting of long QT mutant sodium channels.

D W Wang, K Yazawa, N Makita, A L George, Jr, P B Bennett

J Clin Invest. 1997 Apr 1; 99(7): 1714–1720. doi: 10.1172/JCI119335

PMCID:: PMC507992

Summary PDF–204K

Select item 30083519.

A revised view of cardiac sodium channel “blockade” in the long-QT syndrome

Nicholas G. Kambouris, H. Bradley Nuss, David C. Johns, Eduardo Marbán, Gordon F. Tomaselli, Jeffrey R. Balser

J Clin Invest. 2000 Apr 15; 105(8): 1133–1140. doi: 10.1172/JCI9212

PMCID:: PMC300835

Article PDF–428K

Select item 19852320.

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

D. Woodrow Benson, Dao W. Wang, Macaira Dyment, Timothy K. Knilans, Frank A. Fish, Margaret J. Strieper, Thomas H. Rhodes, Alfred L. George, Jr.

J Clin Invest. 2003 Oct 1; 112(7): 1019–1028. doi: 10.1172/JCI18062

PMCID:: PMC198523

Article PDF–1.5M

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