(Circulation. 2000;102:1178.)
© 2000 American Heart Association, Inc.
Basic Science Reports |
Spectrum of Mutations in Long-QT Syndrome Genes
KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
From the Department of Human Genetics (I.S., K.W.T., M.T.K.), Howard Hughes Medical Institute (J.S., M.T.K.), and Division of Cardiology (M.T.K.), University of Utah, and the Department of Medicine, LDS Hospital (G.M.V.), Salt Lake City, Utah; Department of Internal Medicine, University of Michigan, Ann Arbor (M.H.L.); Molecular Cardiology, Fondazione Maugeri (S.P.), and Department of Cardiology, University of Pavia and Policlinico S. Matteo (P.J.S.), IRCCS, Pavia, Italy; Department of Medicine, University of Rochester, Rochester, NY (J.L.R., A.J.M.); and Departments of Pediatrics and Molecular and Human Genetics (J.A.T.), Baylor College of Medicine, Houston, Tex.
Correspondence to Igor Splawski, University of Utah, Eccles Institute of Human Genetics, 15N 2030E Suite 2100, Salt Lake City, UT 84112-5330. E-mail igor.splawski{at}genetics.utah.edu
Background—Long-QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on ECG and presence of syncope, seizures, and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion.
Methods and Results—We used mutational analyses to screen a pool of 262 unrelated individuals with LQTS for mutations in the 5 defined genes. We identified 134 mutations in addition to the 43 that we previously reported. Eighty of the mutations were novel. The total number of mutations in this population is now 177 (68% of individuals).
Conclusions—KVLQT1 (42%) and HERG (45%) accounted for 87% of identified mutations, and SCN5A (8%), KCNE1 (3%), and KCNE2 (2%) accounted for the other 13%. Missense mutations were most common (72%), followed by frameshift mutations (10%), in-frame deletions, and nonsense and splice-site mutations (5% to 7% each). Most mutations resided in intracellular (52%) and transmembrane (30%) domains; 12% were found in pore and 6% in extracellular segments. In most cases (78%), a mutation was found in a single family or an individual.
Key Words: long-QT syndrome • arrhythmia • death, sudden • torsade de pointes • genetics
This article has been cited by other articles:
 |
|
 |
|
  A. Sato, T. Arimura, N. Makita, T. Ishikawa, Y. Aizawa, H. Ushinohama, Y. Aizawa, and A. Kimura Novel Mechanisms of Trafficking Defect Caused by KCNQ1 Mutations Found in Long QT Syndrome J. Biol. Chem., December 11, 2009; 284(50): 35122 - 35133. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Shimizu, A. J. Moss, A. A.M. Wilde, J. A. Towbin, M. J. Ackerman, C. T. January, D. J. Tester, W. Zareba, J. L. Robinson, M. Qi, et al. Genotype-Phenotype Aspects of Type 2 Long QT Syndrome. J. Am. Coll. Cardiol., November 24, 2009; 54(22): 2052 - 2062. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. J. Schwartz, M. Stramba-Badiale, L. Crotti, M. Pedrazzini, A. Besana, G. Bosi, F. Gabbarini, K. Goulene, R. Insolia, S. Mannarino, et al. Prevalence of the Congenital Long-QT Syndrome Circulation, November 3, 2009; 120(18): 1761 - 1767. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Jonsson, B. Isomaa, T. Tuomi, J. Taneera, A. Salehi, P. Nilsson, L. Groop, and V. Lyssenko A Variant in the KCNQ1 Gene Predicts Future Type 2 Diabetes and Mediates Impaired Insulin Secretion Diabetes, October 1, 2009; 58(10): 2409 - 2413. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. K. Rudd, J. Keene, B. Bunke, E. B. Kaminsky, M. P. Adam, J. G. Mulle, D. H. Ledbetter, and C. L. Martin Segmental duplications mediate novel, clinically relevant chromosome rearrangements Hum. Mol. Genet., August 15, 2009; 18(16): 2957 - 2962. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Yang, S.-K. Chung, W. Zhang, J. G.L. Mullins, C. H. McCulley, J. Crawford, J. MacCormick, C.-A. Eddy, A. N. Shelling, J. K. French, et al. Biophysical Properties of 9 KCNQ1 Mutations Associated With Long-QT Syndrome Circ Arrhythm Electrophysiol, August 1, 2009; 2(4): 417 - 426. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. D. Krahn, J. S. Healey, V. Chauhan, D. H. Birnie, C. S. Simpson, J. Champagne, M. Gardner, S. Sanatani, D. V. Exner, G. J. Klein, et al. Systematic Assessment of Patients With Unexplained Cardiac Arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Circulation, July 28, 2009; 120(4): 278 - 285. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. R. Silva, H. Pan, D. Wu, A. Nekouzadeh, K. F. Decker, J. Cui, N. A. Baker, D. Sept, and Y. Rudy A multiscale model linking ion-channel molecular dynamics and electrostatics to the cardiac action potential PNAS, July 7, 2009; 106(27): 11102 - 11106. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Jiang, X. Xu, Y. Wang, F. Toyoda, X.-S. Liu, M. Zhang, R. B. Robinson, and G.-N. Tseng Dynamic Partnership between KCNQ1 and KCNE1 and Influence on Cardiac IKs Current Amplitude by KCNE2 J. Biol. Chem., June 12, 2009; 284(24): 16452 - 16462. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. M. Hardman and I. D. Forsythe Ether-à-go-go-related gene K+ channels contribute to threshold excitability of mouse auditory brainstem neurons J. Physiol., June 1, 2009; 587(11): 2487 - 2497. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. H Nolte and R. Wenzel Seizure or syncope? A channelopathy with cardiac and cerebral manifestation BMJ Case Reports, April 14, 2009; 2009(apr07_2): bcr1020081024 - bcr1020081024. [Abstract] [Full Text]
|
|
|
|
|
|
A. O. Grant Cardiac Ion Channels Circ Arrhythm Electrophysiol, April 1, 2009; 2(2): 185 - 194. [Full Text] [PDF]
|
|
|
|
|
|
F. Potet, B. Chagot, M. Anghelescu, P. C. Viswanathan, S. Z. Stepanovic, S. Kupershmidt, W. J. Chazin, and J. R. Balser Functional Interactions between Distinct Sodium Channel Cytoplasmic Domains through the Action of Calmodulin J. Biol. Chem., March 27, 2009; 284(13): 8846 - 8854. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Mahida, C. Dalageorgou, and E. R. Behr Long-QT syndrome and torsades de pointes in a patient with Takotsubo cardiomyopathy: an unusual case Europace, March 1, 2009; 11(3): 376 - 378. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. A. Koplan and W. G. Stevenson Ventricular Tachycardia and Sudden Cardiac Death Mayo Clin. Proc., March 1, 2009; 84(3): 289 - 297. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Peroz, S. Dahimene, I. Baro, G. Loussouarn, and J. Merot LQT1-associated Mutations Increase KCNQ1 Proteasomal Degradation Independently of Derlin-1 J. Biol. Chem., February 20, 2009; 284(8): 5250 - 5256. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Michael, L. Xiao, X.-Y. Qi, D. Dobrev, and S. Nattel Remodelling of cardiac repolarization: how homeostatic responses can lead to arrhythmogenesis Cardiovasc Res, February 15, 2009; 81(3): 491 - 499. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Y. Chung, P. J. Chan, J. R. Bankston, L. Yang, G. Liu, S. O. Marx, A. Karlin, and R. S. Kass Location of KCNE1 relative to KCNQ1 in the IKS potassium channel by disulfide cross-linking of substituted cysteines PNAS, January 20, 2009; 106(3): 743 - 748. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Eijgelsheim, A. L.H.J. Aarnoudse, F. Rivadeneira, J. A. Kors, J. C. M. Witteman, A. Hofman, C. M. van Duijn, A. G. Uitterlinden, and B. H.C. Stricker Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration Hum. Mol. Genet., January 15, 2009; 18(2): 347 - 357. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. H. Scheuermann, D. R. Tomchick, M. Machius, Y. Guo, R. K. Bruick, and K. H. Gardner Artificial ligand binding within the HIF2{alpha} PAS-B domain of the HIF2 transcription factor PNAS, January 13, 2009; 106(2): 450 - 455. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Ruan, N. Liu, C. Napolitano, and S. G. Priori Therapeutic Strategies for Long-QT Syndrome: Does the Molecular Substrate Matter? Circ Arrhythm Electrophysiol, October 1, 2008; 1(4): 290 - 297. [Full Text] [PDF]
|
|
|
|
|
|
G. M. Vincent Genotyping Has a Minor Role in Selecting Therapy for Congenital Long-QT Syndromes at Present Circ Arrhythm Electrophysiol, August 1, 2008; 1(3): 227 - 233. [Full Text] [PDF]
|
|
|
|
 |
|
 E. R. Behr, C. Dalageorgou, M. Christiansen, P. Syrris, S. Hughes, M. T. Tome Esteban, E. Rowland, S. Jeffery, and W. J. McKenna Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families Eur. Heart J., July 1, 2008; 29(13): 1670 - 1680. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Goldenberg and A. J. Moss Long QT syndrome. J. Am. Coll. Cardiol., June 17, 2008; 51(24): 2291 - 2300. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Goldenberg, A. J. Moss, D. R. Peterson, S. McNitt, W. Zareba, M. L. Andrews, J. L. Robinson, E. H. Locati, M. J. Ackerman, J. Benhorin, et al. Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome Circulation, April 29, 2008; 117(17): 2184 - 2191. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Goldenberg, A. J. Moss, J. Bradley, S. Polonsky, D. R. Peterson, S. McNitt, W. Zareba, M. L. Andrews, J. L. Robinson, M. J. Ackerman, et al. Long-QT Syndrome After Age 40 Circulation, April 29, 2008; 117(17): 2192 - 2201. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. J. Morin and W. R. Kobertz Counting membrane-embedded KCNE {beta}-subunits in functioning K+ channel complexes PNAS, February 5, 2008; 105(5): 1478 - 1482. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Hinterseer, M. B. Thomsen, B.-M. Beckmann, A. Pfeufer, R. Schimpf, H.-E. Wichmann, G. Steinbeck, M. A. Vos, and S. Kaab Beat-to-beat variability of QT intervals is increased in patients with drug-induced long-QT syndrome: a case control pilot study Eur. Heart J., January 2, 2008; 29(2): 185 - 190. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. R. Boulet, A. J. Labro, A. L. Raes, and D. J. Snyders Role of the S6 C-terminus in KCNQ1 channel gating J. Physiol., December 1, 2007; 585(2): 325 - 337. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. E. Lehnart, M. J. Ackerman, D. W. Benson Jr, R. Brugada, C. E. Clancy, J. K. Donahue, A. L. George Jr, A. O. Grant, S. C. Groft, C. T. January, et al. Inherited Arrhythmias: A National Heart, Lung, and Blood Institute and Office of Rare Diseases Workshop Consensus Report About the Diagnosis, Phenotyping, Molecular Mechanisms, and Therapeutic Approaches for Primary Cardiomyopathies of Gene Mutations Affecting Ion Channel Function Circulation, November 13, 2007; 116(20): 2325 - 2345. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. W. Van Norstrand, C. R. Valdivia, D. J. Tester, K. Ueda, B. London, J. C. Makielski, and M. J. Ackerman Molecular and Functional Characterization of Novel Glycerol-3-Phosphate Dehydrogenase 1-Like Gene (GPD1-L) Mutations in Sudden Infant Death Syndrome Circulation, November 13, 2007; 116(20): 2253 - 2259. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. P. Etheridge, S. Sanatani, M. I. Cohen, C. A. Albaro, E. V. Saarel, and D. J. Bradley Long QT Syndrome in Children in the Era of Implantable Defibrillators J. Am. Coll. Cardiol., October 2, 2007; 50(14): 1335 - 1340. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Newton-Cheh, C.-Y. Guo, M. G. Larson, S. L. Musone, A. Surti, A. L. Camargo, J. A. Drake, E. J. Benjamin, D. Levy, R. B. D'Agostino Sr, et al. Common Genetic Variation in KCNH2 Is Associated With QT Interval Duration: The Framingham Heart Study Circulation, September 4, 2007; 116(10): 1128 - 1136. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Arnaout, T. Ferrer, J. Huisken, K. Spitzer, D. Y. R. Stainier, M. Tristani-Firouzi, and N. C. Chi Zebrafish model for human long QT syndrome PNAS, July 3, 2007; 104(27): 11316 - 11321. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A.-J. L.H.J. Aarnoudse, C. Newton-Cheh, P. I.W. de Bakker, S. M.J.M. Straus, J. A. Kors, A. Hofman, A. G. Uitterlinden, J. C.M. Witteman, and B. H.C. Stricker Common NOS1AP Variants Are Associated With a Prolonged QTc Interval in the Rotterdam Study Circulation, July 3, 2007; 116(1): 10 - 16. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Gong, L. Zhang, G. M. Vincent, B. D. Horne, and Z. Zhou Nonsense Mutations in hERG Cause a Decrease in Mutant mRNA Transcripts by Nonsense-Mediated mRNA Decay in Human Long-QT Syndrome Circulation, July 3, 2007; 116(1): 17 - 24. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. A. Beery, K. A. Shooner, and D. W. Benson Neonatal Long QT Syndrome Due to a De Novo Dominant Negative hERG Mutation Am. J. Crit. Care., July 1, 2007; 16(4): 416 - 412. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Lei, H. Zhang, A. A. Grace, and C. L.-H. Huang SCN5A and sinoatrial node pacemaker function Cardiovasc Res, June 1, 2007; 74(3): 356 - 365. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V. L. Vetter Clues or Miscues?: How to Make the Right Interpretation and Correctly Diagnose Long-QT Syndrome Circulation, May 22, 2007; 115(20): 2595 - 2598. [Full Text] [PDF]
|
|
|
|
|
|
A. J. Moss, W. Shimizu, A. A.M. Wilde, J. A. Towbin, W. Zareba, J. L. Robinson, M. Qi, G. M. Vincent, M. J. Ackerman, E. S. Kaufman, et al. Clinical Aspects of Type-1 Long-QT Syndrome by Location, Coding Type, and Biophysical Function of Mutations Involving the KCNQ1 Gene Circulation, May 15, 2007; 115(19): 2481 - 2489. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E R Behr, A Casey, M Sheppard, M Wright, T J Bowker, M J Davies, W J McKenna, and D A Wood Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death Heart, May 1, 2007; 93(5): 601 - 605. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. S. Pitt Calmodulin and CaMKII as molecular switches for cardiac ion channels Cardiovasc Res, March 1, 2007; 73(4): 641 - 647. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Imboden, H. Swan, I. Denjoy, I. M. Van Langen, P. J. Latinen-Forsblom, C. Napolitano, V. Fressart, G. Breithardt, M. Berthet, S. Priori, et al. Female Predominance and Transmission Distortion in the Long-QT Syndrome N. Engl. J. Med., December 28, 2006; 355(26): 2744 - 2751. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. M. Rocheleau, S. D. Gage, and W. R. Kobertz Secondary Structure of a KCNE Cytoplasmic Domain J. Gen. Physiol., December 1, 2006; 128(6): 721 - 729. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. L. Tan, A. Bardai, W. Shimizu, A. J. Moss, E. Schulze-Bahr, T. Noda, and A. A. M. Wilde Genotype-Specific Onset of Arrhythmias in Congenital Long-QT Syndrome: Possible Therapy Implications Circulation, November 14, 2006; 114(20): 2096 - 2103. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Dahimene, S. Alcolea, P. Naud, P. Jourdon, D. Escande, R. Brasseur, A. Thomas, I. Baro, and J. Merot The N-Terminal Juxtamembranous Domain of KCNQ1 Is Critical for Channel Surface Expression: Implications in the Romano-Ward LQT1 Syndrome Circ. Res., November 10, 2006; 99(10): 1076 - 1083. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Schulze-Bahr Arrhythmia Predisposition: Between Rare Disease Paradigms and Common Ion Channel Gene Variants J. Am. Coll. Cardiol., October 27, 2006; 48(9_Suppl_A): A67 - A78. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. M. Karp and A. J. Moss Authors' response J Am Dent Assoc, August 1, 2006; 137(8): 1069 - 1070. [Full Text] [PDF]
|
|
|
|
|
|
M. Allouis, F. Le Bouffant, R. Wilders, D. Peroz, J.-J. Schott, J. Noireaud, H. Le Marec, J. Merot, D. Escande, and I. Baro 14-3-3 Is a Regulator of the Cardiac Voltage-Gated Sodium Channel Nav1.5 Circ. Res., June 23, 2006; 98(12): 1538 - 1546. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Li, S. Y. Um, and T. V. Mcdonald Voltage-Gated Potassium Channels: Regulation by Accessory Subunits Neuroscientist, June 1, 2006; 12(3): 199 - 210. [Abstract] [PDF]
|
|
|
|
|
|
C. E. Clarke, A. P. Hill, J. Zhao, M. Kondo, R. N. Subbiah, T. J. Campbell, and J. I. Vandenberg Effect of S5P {alpha}-helix charge mutants on inactivation of hERG K+ channels J. Physiol., June 1, 2006; 573(2): 291 - 304. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Varro and J. Gy. Papp Low penetrance, subclinical congenital LQTS: Concealed LQTS or silent LQTS? Cardiovasc Res, June 1, 2006; 70(3): 404 - 406. [Full Text] [PDF]
|
|
|
|
|
|
I. R. Boulet, A. L. Raes, N. Ottschytsch, and D. J. Snyders Functional effects of a KCNQ1 mutation associated with the long QT syndrome Cardiovasc Res, June 1, 2006; 70(3): 466 - 474. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. M. Karp and A. J. Moss Dental treatment of patients with long QT syndrome J Am Dent Assoc, May 1, 2006; 137(5): 630 - 637. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Ghosh, D. A. Nunziato, and G. S. Pitt KCNQ1 Assembly and Function Is Blocked by Long-QT Syndrome Mutations That Disrupt Interaction With Calmodulin Circ. Res., April 28, 2006; 98(8): 1048 - 1054. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Anastasakis, C.-M. Kotta, S. Kyriakogonas, B. Wollnik, A. Theopistou, and C. Stefanadis Phenotype reveals genotype in a Greek long QT syndrome family. Europace, April 1, 2006; 8(4): 241 - 244. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Vyas, J. Hejlik, and M. J. Ackerman Epinephrine QT Stress Testing in the Evaluation of Congenital Long-QT Syndrome: Diagnostic Accuracy of the Paradoxical QT Response Circulation, March 21, 2006; 113(11): 1385 - 1392. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Cui, L. Li, X. Wang, Y. Shi, W. Shi, and C. Jiang Elimination of allosteric modulation of myocardial KATP channels by ATP and protons in two Kir6.2 polymorphisms found in sudden cardiac death Physiol Genomics, March 13, 2006; 25(1): 105 - 115. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. G. Priori and C. Napolitano Role of Genetic Analyses in Cardiology: Part I: Mendelian Diseases: Cardiac Channelopathies Circulation, February 28, 2006; 113(8): 1130 - 1135. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J. Tester, M. L. Will, C. M. Haglund, and M. J. Ackerman Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing J. Am. Coll. Cardiol., February 21, 2006; 47(4): 764 - 768. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Gong, M. A. Jones, and Z. Zhou Mechanisms of Pharmacological Rescue of Trafficking-defective hERG Mutant Channels in Human Long QT Syndrome J. Biol. Chem., February 17, 2006; 281(7): 4069 - 4074. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. J. Schwartz, C. Spazzolini, L. Crotti, J. Bathen, J. P. Amlie, K. Timothy, M. Shkolnikova, C. I. Berul, M. Bitner-Glindzicz, L. Toivonen, et al. The Jervell and Lange-Nielsen Syndrome: Natural History, Molecular Basis, and Clinical Outcome Circulation, February 14, 2006; 113(6): 783 - 790. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Creighton, R. Virmani, R. Kutys, and A. Burke Identification of Novel Missense Mutations of Cardiac Ryanodine Receptor Gene in Exercise-Induced Sudden Death at Autopsy J. Mol. Diagn., February 1, 2006; 8(1): 62 - 67. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. J. Bunch and M. J. Ackerman Promoting Arrhythmia Susceptibility Circulation, January 24, 2006; 113(3): 330 - 332. [Full Text] [PDF]
|
|
|
|
|
|
C. L. Anderson, B. P. Delisle, B. D. Anson, J. A. Kilby, M. L. Will, D. J. Tester, Q. Gong, Z. Zhou, M. J. Ackerman, and C. T. January Most LQT2 Mutations Reduce Kv11.1 (hERG) Current by a Class 2 (Trafficking-Deficient) Mechanism Circulation, January 24, 2006; 113(3): 365 - 373. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Roberts Genomics and Cardiac Arrhythmias J. Am. Coll. Cardiol., January 3, 2006; 47(1): 9 - 21. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. J. Kang Cardiac Hypertrophy: A Risk Factor for QT-Prolongation and Cardiac Sudden Death Toxicol Pathol, January 1, 2006; 34(1): 58 - 66. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Napolitano, S. G. Priori, P. J. Schwartz, R. Bloise, E. Ronchetti, J. Nastoli, G. Bottelli, M. Cerrone, and S. Leonardi Genetic Testing in the Long QT Syndrome: Development and Validation of an Efficient Approach to Genotyping in Clinical Practice JAMA, December 21, 2005; 294(23): 2975 - 2980. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Shah, F. G. Akar, and G. F. Tomaselli Molecular Basis of Arrhythmias Circulation, October 18, 2005; 112(16): 2517 - 2529. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. D. Krahn, M. Gollob, R. Yee, L. J. Gula, A. C. Skanes, B. D. Walker, and G. J. Klein Diagnosis of Unexplained Cardiac Arrest: Role of Adrenaline and Procainamide Infusion Circulation, October 11, 2005; 112(15): 2228 - 2234. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. M. Nerbonne and R. S. Kass Molecular Physiology of Cardiac Repolarization Physiol Rev, October 1, 2005; 85(4): 1205 - 1253. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Shimizu The long QT syndrome: Therapeutic implications of a genetic diagnosis Cardiovasc Res, August 15, 2005; 67(3): 347 - 356. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J. Tester and M. J. Ackerman Sudden infant death syndrome: How significant are the cardiac channelopathies? Cardiovasc Res, August 15, 2005; 67(3): 388 - 396. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. J. Wilson, K. V. Quinn, F. M. Graves, M. Bitner-Glindzicz, and A. Tinker Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1) Cardiovasc Res, August 15, 2005; 67(3): 476 - 486. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Thomas, A.-B. Wimmer, C. A. Karle, M. Licka, M. Alter, M. Khalil, H. E. Ulmer, S. Kathofer, J. Kiehn, H. A. Katus, et al. Dominant-negative IKs suppression by KCNQ1-{Delta}F339 potassium channels linked to Romano-Ward syndrome Cardiovasc Res, August 15, 2005; 67(3): 487 - 497. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J.M. Cordeiro, R. Brugada, Y.S. Wu, K. Hong, and R. Dumaine Modulation of IKr inactivation by mutation N588K in KCNH2: A link to arrhythmogenesis in short QT syndrome Cardiovasc Res, August 15, 2005; 67(3): 498 - 509. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Chen, M. Inoue, and M. F. Sheets Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617 Am J Physiol Heart Circ Physiol, June 1, 2005; 288(6): H2666 - H2676. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J R Skinner Is there a relation between SIDS and long QT syndrome? Arch. Dis. Child., May 1, 2005; 90(5): 445 - 449. [Full Text] [PDF]
|
|
|
|
|
|
J R Skinner, S-K Chung, D Montgomery, C H McCulley, J Crawford, J French, and M I Rees Near-miss SIDS due to Brugada syndrome Arch. Dis. Child., May 1, 2005; 90(5): 528 - 529. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Nie, W. Feng, R. Diaz, M. A. Gratton, K. J. Doyle, and E. N. Yamoah Functional Consequences of Polyamine Synthesis Inhibition by L-{alpha}-Difluoromethylornithine (DFMO): CELLULAR MECHANISMS FOR DFMO-MEDIATED OTOTOXICITY J. Biol. Chem., April 15, 2005; 280(15): 15097 - 15102. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. T. Beery The Genetics of Cardiac Arrhythmias Biol Res Nurs, April 1, 2005; 6(4): 249 - 261. [Abstract] [PDF]
|
|
|
|
|
|
A. J. Moss and P. J. Schwartz 25th Anniversary of the International Long-QT Syndrome Registry: An Ongoing Quest to Uncover the Secrets of Long-QT Syndrome Circulation, March 8, 2005; 111(9): 1199 - 1201. [Full Text] [PDF]
|
|
|
|
|
|
T. M. Olson, V. V. Michels, J. D. Ballew, S. P. Reyna, M. L. Karst, K. J. Herron, S. C. Horton, R. J. Rodeheffer, and J. L. Anderson Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation JAMA, January 26, 2005; 293(4): 447 - 454. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. E. Clancy and R. S. Kass Inherited and Acquired Vulnerability to Ventricular Arrhythmias: Cardiac Na+ and K+ Channels Physiol Rev, January 1, 2005; 85(1): 33 - 47. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. D. Gage and W. R. Kobertz KCNE3 Truncation Mutants Reveal a Bipartite Modulation of KCNQ1 K+ Channels J. Gen. Physiol., November 29, 2004; 124(6): 759 - 771. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
X. H. T. Wehrens and A. R. Marks Sudden Unexplained Death Caused by Cardiac Ryanodine Receptor (RyR2) Mutations Mayo Clin. Proc., November 1, 2004; 79(11): 1367 - 1371. [PDF]
|
|
|
|
|
|
L. Zhang, G. M. Vincent, M. Baralle, F. E. Baralle, B. D. Anson, D. W. Benson, B. Whiting, K. W. Timothy, J. Carlquist, C. T. January, et al. An intronic mutation causes long QT syndrome J. Am. Coll. Cardiol., September 15, 2004; 44(6): 1283 - 1291. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Jespersen, H. B. Rasmussen, M. Grunnet, H. S. Jensen, K. Angelo, D. S. Dupuis, L. K. Vogel, N. K. Jorgensen, D. A. Klaerke, and S.-P. Olesen Basolateral localisation of KCNQ1 potassium channels in MDCK cells: molecular identification of an N-terminal targeting motif J. Cell Sci., September 1, 2004; 117(19): 4517 - 4526. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Kanki, S. Kupershmidt, T. Yang, S. Wells, and D. M. Roden A Structural Requirement for Processing the Cardiac K+ Channel KCNQ1 J. Biol. Chem., August 6, 2004; 279(32): 33976 - 33983. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Villain, I. Denjoy, J.M. Lupoglazoff, P. Guicheney, B. Hainque, V. Lucet, and D. Bonnet Low incidence of cardiac events with {beta}-blocking therapy in children with long QT syndrome Eur. Heart J., August 2, 2004; 25(16): 1405 - 1411. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Gong, C. L. Anderson, C. T. January, and Z. Zhou Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits Am J Physiol Heart Circ Physiol, August 1, 2004; 287(2): H652 - H658. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Shimizu, M. Horie, S. Ohno, K. Takenaka, M. Yamaguchi, M. Shimizu, T. Washizuka, Y. Aizawa, K. Nakamura, T. Ohe, et al. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: Multicenter study in Japan J. Am. Coll. Cardiol., July 7, 2004; 44(1): 117 - 125. [Abstract] [Full Text] [PDF]
|
|