Novel SCN5A frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead.
Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology
Pannone, Luigi L; Bisignani, Antonio A; Osei, Randy R; Gauthey, Anaïs A; Sorgente, Antonio A; Vergara, Pasquale P; Monaco, Cinzia C; Della Rocca, Domenico Giovanni DG; Del Monte, Alvise A; Strazdas, Antanas A; Mojica, Joerelle J; Al Housari, Maysam M; Miraglia, Vincenzo V; Mouram, Sahar S; Paparella, Gaetano G; Ramak, Robbert R; Overeinder, Ingrid I; Bala, Gezim G; Almorad, Alexandre A; Ströker, Erwin E; Pappaert, Gudrun G; Sieira, Juan J; de Ravel, Thomy T; La Meir, Mark M; Brugada, Pedro P; Chierchia, Gian Battista GB; Van Dooren, Sonia S; de Asmundis, Carlo C
Publication Date: 2023-04-16
Variant appearance in text: SCN5A: 2466G>A; Trp822*
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: SCN5A: 2466G>A; Trp822Ter
Cause of Death in Charred Bodies: Reflections and Operational Insights Based on a Large Cases Study.
Diagnostics (Basel, Switzerland)
Maiese, Aniello A; Ciallella, Costantino C; dell'Aquila, Massimiliano M; De Matteis, Alessandra A; Toni, Chiara C; Scatena, Andrea A; La Russa, Raffaele R; Mezzetti, Eleonora E; Di Paolo, Marco M; Turillazzi, Emanuela E; Frati, Paola P; Fineschi, Vittorio V
Anaphylactic Death: A New Forensic Workflow for Diagnosis.
Healthcare (Basel, Switzerland)
Esposito, Massimiliano M; Montana, Angelo A; Liberto, Aldo A; Filetti, Veronica V; Nunno, Nunzio Di ND; Amico, Francesco F; Salerno, Monica M; Loreto, Carla C; Sessa, Francesco F
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01
Variant appearance in text: SCN5A: 2466G>A; Trp822*
The role of sodium channels in sudden unexpected death in pediatrics.
Molecular Genetics & Genomic Medicine
Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH
Glazer, Andrew M AM; Kroncke, Brett M BM; Matreyek, Kenneth A KA; Yang, Tao T; Wada, Yuko Y; Shields, Tiffany T; Salem, Joe-Elie JE; Fowler, Douglas M DM; Roden, Dan M DM