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Journal Abstract Search

284 related items for PubMed ID: 20875080

  • 1. Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.
    Tu E, Bagnall RD, Duflou J, Semsarian C.
    Brain Pathol; 2011 Mar; 21(2):201-8. PubMed ID: 20875080
    [Abstract] [Full Text] [Related]

  • 2. Investigation of ion channel gene variants in patients with long QT syndrome.
    Ernesto C, Cruz FE, Lima FS, Coutinho JL, Silva R, Urményi TP, Carvalho AC, Rondinelli E.
    Arq Bras Cardiol; 2011 Mar; 96(3):172-8. PubMed ID: 21308345
    [Abstract] [Full Text] [Related]

  • 3. Long QT and Brugada syndrome gene mutations in New Zealand.
    Chung SK, MacCormick JM, McCulley CH, Crawford J, Eddy CA, Mitchell EA, Shelling AN, French JK, Skinner JR, Rees MI.
    Heart Rhythm; 2007 Oct; 4(10):1306-14. PubMed ID: 17905336
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  • 4. The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.
    Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N, Haunsø S, Svendsen JH, Wang Y, Kristensen IB, Jensen HK, Tfelt-Hansen J, Banner J.
    J Cardiovasc Electrophysiol; 2012 Oct; 23(10):1092-8. PubMed ID: 22882672
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  • 6. Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death?
    Kiehne N, Kauferstein S.
    Forensic Sci Int Genet; 2007 Jun; 1(2):170-4. PubMed ID: 19083750
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  • 8. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
    Coll M, Allegue C, Partemi S, Mates J, Del Olmo B, Campuzano O, Pascali V, Iglesias A, Striano P, Oliva A, Brugada R.
    Int J Legal Med; 2016 Mar; 130(2):331-9. PubMed ID: 26423924
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  • 11. Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.
    Chang YS, Yang YW, Lin YN, Lin KH, Chang KC, Chang JG.
    Int Heart J; 2015 Mar; 56(4):450-3. PubMed ID: 26118593
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  • 12. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
    Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.
    Heart Rhythm; 2009 Sep; 6(9):1297-303. PubMed ID: 19716085
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  • 14. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.
    Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ.
    Mayo Clin Proc; 2012 Jun; 87(6):524-39. PubMed ID: 22677073
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  • 16. Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
    Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ.
    Circulation; 2009 Nov 03; 120(18):1752-60. PubMed ID: 19841300
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  • 17. Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.
    Tu E, Waterhouse L, Duflou J, Bagnall RD, Semsarian C.
    Brain Pathol; 2011 Nov 03; 21(6):692-8. PubMed ID: 21615589
    [Abstract] [Full Text] [Related]

  • 18. Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
    Zhang X, Chen S, Zhang L, Liu M, Redfearn S, Bryant RM, Oberti C, Vincent GM, Wang QK.
    BMC Med Genet; 2008 Sep 23; 9():87. PubMed ID: 18808722
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  • 19. [Gene mutation analysis of a Chinese family of congenital long Q-T syndrome type three].
    Shi RM, Ma AQ, Zhang YM, Yang C, Huang C, Zhou XH, Liu XH.
    Zhonghua Er Ke Za Zhi; 2009 Dec 23; 47(12):926-30. PubMed ID: 20193146
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  • 20. Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.
    Eddy CA, MacCormick JM, Chung SK, Crawford JR, Love DR, Rees MI, Skinner JR, Shelling AN.
    Heart Rhythm; 2008 Sep 23; 5(9):1275-81. PubMed ID: 18774102
    [Abstract] [Full Text] [Related]

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