| 1 | BRGS1, SCN5A
|
| High-Throughput Reclassification of SCN5A Variants
|
| Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM
|
| Am J Hum Genet. Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12 2020
|
| 2 | BRGS1, LQT3, SCN5A
|
| Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects.
|
| Remme CA.
|
| J Physiol Physiol. 2013 Jul 29. [Epub ahead of print]
2013
|
| 3 | BRGS1, BRGS10, BRGS2, BRGS3, BRGS4, BRGS5, BRGS6, BRGS7, BRGS9, CACN2B, CACNA1C, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
|
| The genetic basis of Brugada syndrome: a mutation update.
|
| Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.
|
| Hum Mutat 30(9):1256-66. Review.PMID: 19606473 2009
|
| 4 | BRGS1, BRGS10, BRGS3, BRGS4
|
| Clinical aspects and prognosis of Brugada syndrome in children.
|
| Probst V, Denjoy I, Meregalli PG, Amirault JC, Sacher F, Mansourati J, Babuty D, Villain E, Victor J, Schott JJ, Lupoglazoff JM, Mabo P, Veltmann C, Jesel L, Chevalier P, Clur SA, Haissaguerre M, Wolpert C, Le Marec H, Wilde AA.
|
| Circulation 115(15):2042-8. Epub 2007 Apr 2. 2007
|
| 5 | BRGS1, SCN5A
|
| A novel mutation in the SCN5A gene is associated with Brugada syndrome.
|
| Shin DJ, Kim E, Park SB, Jang WC, Bae Y, Han J, Jang Y, Joung B, Lee MH, Kim SS, Huang H, Chahine M, Yoon SK.
|
| Life Sci 80(8):716-24. Epub 2006 Dec 1.
2007
|
| 6 | BRGS1, SCN5A
|
| Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A.
|
| Itoh H, Shimizu M, Mabuchi H, Imoto K.
|
| J Cardiovasc Electrophysiol 16(4):378-83. 2005
|
| 7 | SCN5A, BRGS1
|
| A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.
|
| Smits JP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MM, Balser JR, Tan HL, Bezzina CR, Wilde AA.
|
| J Mol Cell Cardiol 38(6):969-81. Epub 2005 Apr 1. 2005
|
| 8 | SCN5A, BRGS1
|
| Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.
|
| Keller DI, Rougier JS, Kucera JP, Benammar N, Fressart V, Guicheney P, Madle A, Fromer M, Schlapfer J, Abriel H.
|
| Cardiovasc Res 67(3):510-9. 2005
|
| 9 | BRGS1, SCN5A
|
| Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3.
|
| Weiss R, Barmada MM, Nguyen T, Seibel JS, Cavlovich D, Kornblit CA, Angelilli A, Villanueva F, McNamara DM, London B.
|
| Circulation 105(6):707-13. 2002
|
| 10 | PCCD2, SCN5A, BRGS1
|
| Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
|
| Rook MB, Alshinawi CB, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, Mannens MM, Wilde AA.
|
| Cardiovasc Res 44(3):507-17. 1999
|
| 11 | BRGS1
|
| Brugada syndrome: clinical data and suggested pathophysiological mechanism.
|
| Alings M, Wilde A.
|
| Circulation 99(5):666-73. No abstract available. 1999
|