| 1 | BRGS1, LQT3, SCN5A
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| Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects.
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| Remme CA.
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| J Physiol Physiol. 2013 Jul 29. [Epub ahead of print]
2013
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| 2 | LQT3, SCN5A
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| Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene.
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| Uziębło-Życzkowska B, Michałkiewicz D, Jackun-Podleśna A, Gielerak G, Zienciuk-Krajka A.
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| Cardiol J 20(1):78-82. doi: 10.5603/CJ.2013.0012.
2013
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| 3 | LQT3, SCN5A
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| Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
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| Huang H, Millat G, Rodriguez-Lafrasse C, Rousson R, Kugener B, Chevalier P, Chahine M.
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| FEBS Lett 583(5):890-6. Epub 2009 Feb 10.
2009
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| 4 | SCN5A, LQT3
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| SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
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| Shan L, Makita N, Xing Y, Watanabe S, Futatani T, Ye F, Saito K, Ibuki K, Watanabe K, Hirono K, Uese K, Ichida F, Miyawaki T, Origasa H, Bowles NE, Towbin JA.
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| Mol Genet Metab 93(4):468-74. 2008
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| 5 | LQT3, SCN5A
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| The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
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| Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, Schulze-Bahr E, Fukuhara S, Mochizuki N, Makiyama T, Itoh H, Christiansen M, McKeown P, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL Jr, Roden DM.
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| J Clin Invest 118(6):2219-29.PMID: 18451998 2008
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| 6 | LQT3, SCN5A
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| A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.
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| Tan BH, Iturralde-Torres P, Medeiros-Domingo A, Nava S, Tester DJ, Valdivia CR, Tusié-Luna T, Ackerman MJ, Makielski JC.
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| Cardiovasc Res 76(3):409-17. Epub 2007 Aug 22.PMID: 17897635 2007
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| 7 | LQT3, SCN5A
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| Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.
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| Casini S, Tan HL, Bhuiyan ZA, Bezzina CR, Barnett P, Cerbai E, Mugelli A, Wilde AA, Veldkamp MW.
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| Cardiovasc Res 76(3):418-29. Epub 2007 Aug 22.PMID: 17854786 2007
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| 8 | KCNQ1, LQT1, KCNE1, KCNE2, LQT5, LQT6, SCN5A, LQT3, KCNH2, LQT2
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| Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
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| Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzalez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.
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| Clin Genet 70(3):214-27. 2006
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| 9 | SCN5A, LQT3
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| 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.
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| Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC, Chien JC, Shieh RC, Chen YT.
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| J Med Genet 43(10):817-21. Epub 2006 May 17. 2006
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| 10 | LQT3, SCN5A
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| Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood.
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| Beaufort-Krol GC, van den Berg MP, Wilde AA, van Tintelen JP, Viersma JW, Bezzina CR, Bink-Boelkens MT.
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| J Am Coll Cardiol 46(2):331-7. 2005
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| 11 | LQT3, SCN5A
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| Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
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| Makita N, Shirai N, Wang DW, Sasaki K, George AL Jr, Kanno M, Kitabatake A.
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| Circulation 101(1):54-60. 2000
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| 12 | LQT3, SCN5A
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| A molecular link between the sudden infant death syndrome and the long-QT syndrome.
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| Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, Richard TA, Berti MR, Bloise R.
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| N Engl J Med 343(4):262-7. No abstract available. 2000
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| 13 | LQT3, SCN5A
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| Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
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| Wei J, et al.
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| Circulation 99(24):3165-71 1999
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| 14 | LQT3, SCN5A
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| Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia.
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| Clancy CE, et al.
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| Nature 400(6744):566-9 1999
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| 15 | LQT3, SCN5A
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| A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
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| Makita N, Shirai N, Nagashima M, Matsuoka R, Yamada Y, Tohse N, Kitabatake A.
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| FEBS Lett 423(1):5-9. 1998
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| 16 | LQT3, SCN5A
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| Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.
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| Kambouris NG, Nuss HB, Johns DC, Tomaselli GF, Marban E, Balser JR.
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| Circulation 97(7):640-4. 1998
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| 17 | LQT1, LQT3
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| Influence of the genotype on the clinical course of the long-QT syndrome.
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| Zareba W, et al.
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| N Engl J Med 339 : 960-965. 1998
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| 18 | LQT3, SCN5A
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| Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
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| An RH, et al.
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| Circ Res 83 : 141-146. 1998
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| 19 | LQT3, SCN5A
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| Characterization of human cardiac Na+ channel mutations in the congenital long QT sydnrome.
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| Wang DW, et al.
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| Proc Natl Acad Sci U S A 93 : 13200-13205. 1996
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| 20 | KCNH2, LQT2, LQT3, SCN5A
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| Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy.
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| Schwartz PJ, et al.
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| Circulation 92 : 3381-3386. 1995
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| 21 | LQT3, SCN5A
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| SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.
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| Wang Q, et al.
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| Cell 80 : 805-811. 1995
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| 22 | SCN5A, LQT3
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| Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
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| Wang Q, et al.
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| Hum Mol Genet 4 : 1603-1607. 1995
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| 23 | LQT3, SCN5A
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| Molecular mechanism for an inherited cardiac arrhythmia.
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| Bennett PB, et al.
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| Nature 376 : 683-685. 1995
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| 24 | LQT1, LQT2, LQT3, IDDM2
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| Genetics of the long QT syndrome.
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| Keating M.
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| J Cardiovasc Electrophysiol 5 : 146-153. 1994
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| 25 | LQT2, LQT3
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| Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.
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| Jiang C, et al.
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| Nat Genet 8 : 141-147. 1994
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| 26 | LQT1, LQT2, LQT3
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| No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family : evidence for genetic heterogeneity.
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| Ko YL, et al.
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| Hum Genet 94 : 364-366. 1994
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| 27 | LQT1, LQT2, LQT3, IDDM2
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| Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome.
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| Dean JCS, et al.
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| J Med Genet 30 : 947-950. 1993
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| 28 | LQT1, LQT2, LQT3
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| Locus heterogeneity of autosomal dominant long QT syndrome.
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| Curran M, et al.
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| J Clin Invest 92 : 799-803. 1993
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| 29 | LQT1, LQT2, LQT3
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| Evidence of genetic heterogeneity in the long QT syndrome.
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| Benhorin J, et al.
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| Science 260 : 1960-1962. 1993
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| 30 | LQT1, LQT2, LQT3
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| The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome.
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| Vincent GM, et al.
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| N Engl J Med 327 : 846-852. 1992
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| 31 | LQT1, LQT2, LQT3
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| Exclusion data for the long QT (Romano-Ward) syndrome gene on the chromosomal region 6p21-6cen.
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| Yurov YB, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1918. 1991
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