Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).
Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022
Variant appearance in text: SCN5A: Gly400Ala; rs199473106
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
Journal Of The American Heart Association
Veltmann, Christian C; Barajas-Martinez, Hector H; Wolpert, Christian C; Borggrefe, Martin M; Schimpf, Rainer R; Pfeiffer, Ryan R; Cáceres, Gabriel G; Burashnikov, Elena E; Antzelevitch, Charles C; Hu, Dan D
Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.
Heart Rhythm
Crotti, Lia L; Hu, Dan D; Barajas-Martinez, Hector H; De Ferrari, Gaetano M GM; Oliva, Antonio A; Insolia, Roberto R; Pollevick, Guido D GD; Dagradi, Federica F; Guerchicoff, Alejandra A; Greco, Federica F; Schwartz, Peter J PJ; Viskin, Sami S; Antzelevitch, Charles C
SCN5A mutation associated with acute myocardial infarction.
Legal Medicine (Tokyo, Japan)
Oliva, Antonio A; Hu, Dan D; Viskin, Sami S; Carrier, Tabitha T; Cordeiro, Jonathan M JM; Barajas-Martinez, Hector H; Wu, Yusheng Y; Burashnikov, Elena E; Brugada, Ramon R; Rosso, Rafael R; Guerchicoff, Alexandra A; Pollevick, Guido G; Pascali, Vincenzo L VL; Antzelevitch, Charlie C
Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.
Heart Rhythm
Hu, Dan D; Viskin, Sami S; Oliva, Antonio A; Carrier, Tabitha T; Cordeiro, Jonathan M JM; Barajas-Martinez, Hector H; Wu, Yuesheng Y; Burashnikov, Elena E; Sicouri, Serge S; Brugada, Ramon R; Rosso, Rafael R; Guerchicoff, Alejandra A; Pollevick, Guido D GD; Antzelevitch, Charles C