oa Genetics of channelopathies associated with sudden cardiac death

References

1. Basso C, Carturan E, Pilichou K, Rizzo S, Corrado D, Thiene G. Sudden cardiac death with normal heart molecular autopsy. Cardiovasc Pathol. 2010 Nov-Dec; 19:6:321–325.
   [Google الباحث العلمي]
2. Oliva A, Brugada R, D'Aloja E, Boschi I, Partemi S, Brugada J, Pascali VL. State of the art in forensic investigation of sudden cardiac death. Am J Forensic Med Pathol. 2010 Mar; 32:1:1–16.
   [Google الباحث العلمي]
3. Campuzano O, Allegue C, Partemi S, Iglesias A, Oliva A, Brugada R. Negative autopsy and sudden cardiac death. International journal of legal medicine. 2014; 128::599–606.
   [Google الباحث العلمي]
4. Wellens HJ, Schwartz PJ, Lindemans FW, Buxton AE, Goldberger JJ, Hohnloser SH, Huikuri HV, Kaab S, La Rovere MT, Malik M, Myerburg RJ, Simoons ML, Swedberg K, Tijssen J, Voors AA, Wilde AA. Risk stratification for sudden cardiac death: Current status and challenges for the future. Eur Heart J. 2014; 35::1642–1651.
   [Google الباحث العلمي]
5. Arzamendi D, Benito B, Tizon-Marcos H, Flores J, Tanguay JF, Ly H, Doucet S, Leduc L, Leung TK, Campuzano O, Iglesias A, Talajic M, Brugada R. Increase in sudden death from coronary artery disease in young adults. Am Heart J. 2011; 161::574–580.
   [Google الباحث العلمي]
6. Campuzano O, Sanchez-Molero O, Allegue C, Coll M, Mademont-Soler I, Selga E, Ferrer-Costa C, Mates J, Iglesias A, Sarquella-Brugada G, Cesar S, Brugada J, Castella J, Medallo J, Brugada R. Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014; 245C::30–37.
   [Google الباحث العلمي]
7. Wolpert C, Parade U, Herrera-Siklody C, Strotmann C, Rub N. [ion channel diseases in children]. Herzschrittmacherther Elektrophysiol. 2014; 25::148–157.
   [Google الباحث العلمي]
8. Shimizu W. Clinical and genetic diagnosis for inherited cardiac arrhythmias. Journal of Nippon Medical School = Nippon Ika Daigaku zasshi. 2014; 81::203–210.
   [Google الباحث العلمي]
9. Campuzano O, Allegue C, Brugada R. [genetics of sudden unexplained death]. Med clin. 2014; 142::265–269.
   [Google الباحث العلمي]
10. Martin CA, Huang CL, Matthews GD. The role of ion channelopathies in sudden cardiac death: Implications for clinical practice. Ann Med. 2013; 45::364–374.
    [Google الباحث العلمي]
11. Giudicessi JR, Ackerman MJ. Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Translational research: the journal of laboratory and clinical medicine. 2013; 161::1–14.
    [Google الباحث العلمي]
12. Shimizu W. Update of diagnosis and management of inherited cardiac arrhythmias. Circ J. 2013; 77::2867–2872.
    [Google الباحث العلمي]
13. van Hoeijen DA, Blom MT, Tan HL. Cardiac sodium channels and inherited electrophysiological disorders: An update on the pharmacotherapy. Expert Opin Pharmacother. 2014; 15::1875–1887.
    [Google الباحث العلمي]
14. Amin AS, Pinto YM, Wilde AA. Long qt syndrome: Beyond the causal mutation. J Physiol. 2013; 591::4125–4139.
    [Google الباحث العلمي]
15. Mizusawa Y, Horie M, Wilde AA. Genetic and clinical advances in congenital long qt syndrome. Circ J. 2014; 78::2827–2833.
    [Google الباحث العلمي]
16. Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusie-Luna MT, Makielski JC, Ackerman MJ. Scn4b-encoded sodium channel beta4 subunit in congenital long-qt syndrome. Circulation. 2007; 116::134–142.
    [Google الباحث العلمي]
17. Riuro H, Campuzano O, Arbelo E, Iglesias A, Batlle M, Perez-Villa F, Brugada J, Perez GJ, Scornik FS, Brugada R. A missense mutation in the sodium channel beta1b subunit reveals scn1b as a susceptibility gene underlying long qt syndrome. Heart Rhythm. 2014; 11::1202–1209.
    [Google الباحث العلمي]
18. Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-qt syndrome. Circulation. 2006; 114::2104–2112.
    [Google الباحث العلمي]
19. Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M. Alpha-1-syntrophin mutation and the long-qt syndrome: A disease of sodium channel disruption. Circ Arrhythm Electrophysiol. 2008; 1::193–201.
    [Google الباحث العلمي]
20. Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P. Brugada syndrome. Methodist DeBakey cardiovascular journal. 2014; 10::25–28.
    [Google الباحث العلمي]
21. Campuzano O, Brugada R, Iglesias A. Genetics of brugada syndrome. Curr Opin Cardiol. 2010 May; 25:3:210–215.
    [Google الباحث العلمي]
22. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998; 392::293–296.
    [Google الباحث العلمي]
23. Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kaab S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR. Sodium channel beta1 subunit mutations associated with brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008; 118::2260–2268.
    [Google الباحث العلمي]
24. Riuro H, Beltran-Alvarez P, Tarradas A, Selga E, Campuzano O, Verges M, Pagans S, Iglesias A, Brugada J, Brugada P, Vazquez FM, Perez GJ, Scornik FS, Brugada R. A missense mutation in the sodium channel beta2 subunit reveals scn2b as a new candidate gene for brugada syndrome. Hum Mutat. 2013; 34::961–966.
    [Google الباحث العلمي]
25. Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, Pfeiffer R, Koopmann TT, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C. A mutation in the beta 3 subunit of the cardiac sodium channel associated with brugada ecg phenotype. Circ Cardiovasc Genet. 2009; 2::270–278.
    [Google الباحث العلمي]
26. Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kaab S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bezieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. Common variants at scn5a-scn10a and hey2 are associated with brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet. 2013; 45::1044–1049.
    [Google الباحث العلمي]
27. London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (gpd1-l) decreases cardiac na+ current and causes inherited arrhythmias. Circulation. 2007; 116::2260–2268.
    [Google الباحث العلمي]
28. Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I, Dilanian G, Martins RP, Fressart V, Berthet M, Schott JJ, Leenhardt A, Probst V, Le Marec H, Hainque B, Coulombe A, Hatem SN, Guicheney P. Mog1: A new susceptibility gene for brugada syndrome. Circ Cardiovasc Genet. 2011; 4::261–268.
    [Google الباحث العلمي]
29. Ishikawa T, Sato A, Marcou CA, Tester DJ, Ackerman MJ, Crotti L, Schwartz PJ, On YK, Park JE, Nakamura K, Hiraoka M, Nakazawa K, Sakurada H, Arimura T, Makita N, Kimura A. A novel disease gene for brugada syndrome: Sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hnav1.5. Circ Arrhythm Electrophysiol. 2012; 5::1098–1107.
    [Google الباحث العلمي]
30. Cerrone M, Lin X, Zhang M, Agullo-Pascual E, Pfenniger A, Chkourko Gusky HN, ovelli V, Kim C, Tirasawadichai T, Judge DP, Rothenberg E, Chen HS, Napolitano C, Priori SG, Delmar M. Missense mutations in plakophilin-2 cause sodium current deficit and associate with a brugada syndrome phenotype. Circulation. 2014; 129::1092–1103.
    [Google الباحث العلمي]
31. Ravens U, Cerbai E. Role of potassium currents in cardiac arrhythmias. Europace. 2008 Oct; 10:10:1133–1137.
    [Google الباحث العلمي]
32. Behere SP, Shubkin CD, Weindling SN. Recent advances in the understanding and management of long qt syndrome. Curr Opin Pediatr. 2014; 26::727–733.
    [Google الباحث العلمي]
33. Aizawa Y, Ueda K, Scornik F, Cordeiro JM, Wu Y, Desai M, Guerchicoff A, Nagata Y, Iesaka Y, Kimura A, Hiraoka M, Antzelevitch C. A novel mutation in kcnq1 associated with a potent dominant negative effect as the basis for the lqt1 form of the long qt syndrome. J Cardiovasc Electrophysiol. 2007; 18::972–977.
    [Google الباحث العلمي]
34. Bianchi L, Shen Z, Dennis AT, Priori SG, Napolitano C, Ronchetti E, Bryskin R, Schwartz PJ, Brown AM. Cellular dysfunction of lqt5-mink mutants: Abnormalities of iks, ikr and trafficking in long qt syndrome. Hum Mol Genet. 1999; 8::1499–1507.
    [Google الباحث العلمي]
35. Sanguinetti MC, Curran ME, Spector PS, Keating MT. Spectrum of herg k+-channel dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci U S A. 1996; 93::2208–2212.
    [Google الباحث العلمي]
36. Tsuboi M, Antzelevitch C. Cellular basis for electrocardiographic and arrhythmic manifestations of andersen-tawil syndrome (lqt7). Heart Rhythm. 2006; 3::328–335.
    [Google الباحث العلمي]
37. Yang Y, Liang B, Liu J, Li J, Grunnet M, Olesen SP, Rasmussen HB, Ellinor PT, Gao L, Lin X, Li L, Wang L, Xiao J, Liu Y, Zhang S, Liang D, Peng L, Jespersen T, Chen YH. Identification of a kir3.4 mutation in congenital long qt syndrome. Am J Hum Genet. 2010; 86::872–880.
    [Google الباحث العلمي]
38. Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS. Mutation of an a-kinase-anchoring protein causes long-qt syndrome. Proc Natl Acad Sci U S A. 2007; 104::20990–20995.
    [Google الباحث العلمي]
39. Brugada J, Gussak I, Brugada P. Short qt syndrome: A predictable story. Cardiology. 2014; 128::231–233.
    [Google الباحث العلمي]
40. Mazzanti A, Kanthan A, Monteforte N, Memmi M, Bloise R, Novelli V, Miceli C, O'Rourke S, Borio G, Zienciuk-Krajka A, Curcio A, Surducan AE, Colombo M, Napolitano C, Priori SG. Novel insight into the natural history of short qt syndrome. J Am Coll Cardiol. 2014; 63::1300–1308.
    [Google الباحث العلمي]
41. Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C. Sudden death associated with short-qt syndrome linked to mutations in herg. Circulation. 2004; 109::30–35.
    [Google الباحث العلمي]
42. Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo kcnq1 mutation responsible for atrial fibrillation and short qt syndrome in utero. Cardiovasc Res. 2005; 68::433–440.
    [Google الباحث العلمي]
43. Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MRG, Gudapakkam S, Bosi G, Stramba-Badiale M. A novel form of short qt syndrome (sqt3) is caused by a mutation in the kcnj2 gene. Circ Res. 2005; 96::800–807.
    [Google الباحث العلمي]
44. Giudicessi JR, Ye D, Tester DJ, Crotti L, Mugione A, Nesterenko VV, Albertson RM, Antzelevitch C, Schwartz PJ, Ackerman MJ. Transient outward current (i(to)) gain-of-function mutations in the kcnd3-encoded kv4.3 potassium channel and brugada syndrome. Heart Rhythm. 2011; 8::1024–1032.
    [Google الباحث العلمي]
45. Delpon E, Cordeiro JM, Nunez L, Thomsen PE, Guerchicoff A, Pollevick GD, Wu Y, Kanters JK, Larsen CT, Hofman-Bang J, Burashnikov E, Christiansen M, Antzelevitch C. Functional effects of kcne3 mutation and its role in the development of brugada syndrome. Circ Arrhythm Electrophysiol. 2008; 1::209–218.
    [Google الباحث العلمي]
46. Ohno S, Zankov DP, Ding WG, Itoh H, Makiyama T, Doi T, Shizuta S, Hattori T, Miyamoto A, Naiki N, Hancox JC, Matsuura H, Horie M. Kcne5 (kcne1l) variants are novel modulators of brugada syndrome and idiopathic ventricular fibrillation. Circ Arrhythm Electrophysiol. 2011; 4::352–361.
    [Google الباحث العلمي]
47. Medeiros-Domingo A, Tan BH, Crotti L, Tester DJ, Eckhardt L, Cuoretti A, Kroboth SL, Song C, Zhou Q, Kopp D, Schwartz PJ, Makielski JC, Ackerman MJ. Gain-of-function mutation s422l in the kcnj8-encoded cardiac k(atp) channel kir6.1 as a pathogenic substrate for j-wave syndromes. Heart Rhythm. 2010; 7::1466–1471.
    [Google الباحث العلمي]
48. Ueda K, Hirano Y, Higashiuesato Y, Aizawa Y, Hayashi T, Inagaki N, Tana T, Ohya Y, Takishita S, Muratani H, Hiraoka M, Kimura A. Role of hcn4 channel in preventing ventricular arrhythmia. J Hum Genet. 2009; 54::115–121.
    [Google الباحث العلمي]
49. Hu D, Barajas-Martinez H, Terzic A, Park S, Pfeiffer R, Burashnikov E, Wu Y, Borggrefe M, Veltmann C, Schimpf R, Cai JJ, Nam GB, Deshmukh P, Scheinman M, Preminger M, Steinberg J, Lopez-Izquierdo A, Ponce-Balbuena D, Wolpert C, Haissaguerre M, Sanchez-Chapula JA, Antzelevitch C. Abcc9 is a novel brugada and early repolarization syndrome susceptibility gene. Int J Cardiol. 2014; 171::431–442.
    [Google الباحث العلمي]
50. Pflaumer A, Davis AM. Guidelines for the diagnosis and management of catecholaminergic polymorphic ventricular tachycardia. Heart Lung Circ. 2012; 21::96–100.
    [Google الباحث العلمي]
51. Kimura H, Zhou J, Kawamura M, Itoh H, Mizusawa Y, Ding WG, Wu J, Ohno S, Makiyama T, Miyamoto A, Naiki N, Wang Q, Xie Y, Suzuki T, Tateno S, Nakamura Y, Zang WJ, Ito M, Matsuura H, Horie M. Phenotype variability in patients carrying kcnj2 mutations. Circ Cardiovasc Genet. 2012; 5::344–353.
    [Google الباحث العلمي]
52. Eisner D, Bode E, Venetucci L, Trafford A. Calcium flux balance in the heart. J Mol Cell Cardiol. 2013; 58::110–117.
    [Google الباحث العلمي]
53. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by st-segment elevation, short qt intervals, and sudden cardiac death. Circulation. 2007; 115::442–449.
    [Google الباحث العلمي]
54. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpon E, Hu D, Desai M, Borggrefe M, Haissaguerre M, Kanter R, Pollevick GD, Guerchicoff A, Laino R, Marieb M, Nademanee K, Nam GB, Robles R, Schimpf R, Stapleton DD, Viskin S, Winters S, Wolpert C, Zimmern S, Veltmann C, Antzelevitch C. Mutations in the cardiac l-type calcium channel associated with inherited j-wave syndromes and sudden cardiac death. Heart Rhythm. 2010; 7::1872–1882.
    [Google الباحث العلمي]
55. Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Ca(v)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004; 119::19–31.
    [Google الباحث العلمي]
56. Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kaab S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr. Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Circ Cardiovasc Genet. 2014; 7::466–474.
    [Google الباحث العلمي]
57. Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. Ankyrin-b mutation causes type 4 long-qt cardiac arrhythmia and sudden cardiac death. Nature. 2003; 421::634–639.
    [Google الباحث العلمي]
58. Mohler PJ. Ankyrins and human disease: What the electrophysiologist should know. J Cardiovasc Electrophysiol. 2006; 17::1153–1159.
    [Google الباحث العلمي]
59. Stallmeyer B, Zumhagen S, Denjoy I, Duthoit G, Hebert JL, Ferrer X, Maugenre S, Schmitz W, Kirchhefer U, Schulze-Bahr E, Guicheney P. Mutational spectrum in the ca(2+)–activated cation channel gene trpm4 in patients with cardiac conductance disturbances. Hum Mutat. 2012; 33::109–117.
    [Google الباحث العلمي]
60. Mohamed U, Napolitano C, Priori SG. Molecular and electrophysiological bases of catecholaminergic polymorphic ventricular tachycardia. J Cardiovasc Electrophysiol. 2007; 18::791–797.
    [Google الباحث العلمي]
61. Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K. Mutations of the cardiac ryanodine receptor (ryr2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001; 103::485–490.
    [Google الباحث العلمي]
62. Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, Lorber A, Kastner DL, Goldman B, Pras E. Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation. 2001; 103::2822–2827.
    [Google الباحث العلمي]
63. Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AA, Bezzina CR. A mutation in calm1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J Am Coll Cardiol. 2014; 63::259–266.
    [Google الباحث العلمي]
64. Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Tremeaux P, Lacampagne A, Faure J, Lunardi J, Marty I. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet. 2012; 21::2759–2767.
    [Google الباحث العلمي]