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| Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome. European heart journal 2021 Jul . Ishikawa Taisuke, Kimoto Hiroki, Mishima Hiroyuki, Yamagata Kenichiro, Ogata Soshiro, Aizawa Yoshiyasu, Hayashi Kenshi, Morita Hiroshi, Nakajima Tadashi, Nakano Yukiko, Nagase Satoshi, Murakoshi Nobuyuki, Kowase Shinya, Ohkubo Kimie, Aiba Takeshi, Morimoto Shimpei, Ohno Seiko, Kamakura Shiro, Nogami Akihiko, Takagi Masahiko, Karakachoff Matilde, Dina Christian, Schott Jean-Jacques, Yoshiura Koh-Ichiro, Horie Minoru, Shimizu Wataru, Nishimura Kunihiro, Kusano Kengo, Makita Naoma |
Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand.
Heart rhythm 2020 Jun . Makarawate Pattarapong, Glinge Charlotte, Khongphatthanayothin Apichai, Walsh Roddy, Mauleekoonphairoj John, Amnueypol Montawatt, Prechawat Somchai, Wongcharoen Wanwarang, Krittayaphong Rungroj, Anannab Alisara, Lichtner Peter, Meitinger Thomas, Tjong Fleur V Y, Lieve Krystien V V, Amin Ahmad S, Sahasatas Dujdao, Ngarmukos Tachapong, Wichadakul Duangdao, Payungporn Sanchai, Sutjaporn Boosamas, Wandee Pharawee, Poovorawan Yong, Tfelt-Hansen Jacob, Tanck Michael W T, Tadros Rafik, Wilde Arthur A M, Bezzina Connie R, Veerakul Gumpanart, Nademanee Koonlaw |
| Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry. Circulation. Genomic and precision medicine 2020 Jun . Juang Jyh-Ming Jimmy, Liu Yen-Bin, Chen Ching-Yu Julius, Yu Qi-You, Chattopadhyay Amrita, Lin Lian-Yu, Chen Wen-Jone, Yu Chih-Chieh, Huang Hui-Chun, Ho Li-Ting, Lai Ling-Ping, Hwang Juey-Jen, Lin Ting-Tse, Liao Ming-Chun, Chen Jien-Jiun, Yeh Shih-Fan Sherri, Chuang Jing-Yuan, Yang Dun-Hui, Lin Jiunn-Lee, Lu Tzu-Pin, Chuang Eric Y, Ackerman Michael |
| Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong. Frontiers in physiology 2020 11 574590. Tse Gary, Lee Sharen, Liu Tong, Yuen Ho Chuen, Wong Ian Chi Kei, Mak Chloe, Mok Ngai Shing, Wong Wing T |
| Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population. Cardiology 2019 Nov 1-8. Wang Feng, Liu Yang, Liao Hongtao, Xue Yumei, Zhan Xianzhang, Fang Xianhong, Liang Yuanhong, Wei Wei, Rao Fang, Zhang Qianhuan, Deng Hai, Lin Yubi, Liu Fangzhou, Lin Weidong, Zhang Bin, Wu Shul |
| Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing. Annals of human genetics 2019 Nov . Li Xin, Liu Nian, Bai Ro |
| SCN5A mutation status increases the risk of major arrhythmic events in Asian populations with Brugada syndrome: systematic review and meta-analysis. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2018 Aug e12589. Rattanawong Pattara, Chenbhanich Jirat, Mekraksakit Poemlarp, Vutthikraivit Wasawat, Chongsathidkiet Pakawat, Limpruttidham Nath, Prasitlumkum Narut, Chung Eugene |
| SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European heart journal 2018 Jul . Baruteau Alban-Elouen, Kyndt Florence, Behr Elijah R, Vink Arja S, Lachaud Matthias, Joong Anna, Schott Jean-Jacques, Horie Minoru, Denjoy Isabelle, Crotti Lia, Shimizu Wataru, Bos Johan M, Stephenson Elizabeth A, Wong Leonie, Abrams Dominic J, Davis Andrew M, Winbo Annika, Dubin Anne M, Sanatani Shubhayan, Liberman Leonardo, Kaski Juan Pablo, Rudic Boris, Kwok Sit Yee, Rieubland Claudine, Tfelt-Hansen Jacob, Van Hare George F, Guyomarc'h-Delasalle Béatrice, Blom Nico A, Wijeyeratne Yanushi D, Gourraud Jean-Baptiste, Le Marec Hervé, Ozawa Junichi, Fressart Véronique, Lupoglazoff Jean-Marc, Dagradi Federica, Spazzolini Carla, Aiba Takeshi, Tester David J, Zahavich Laura A, Beauséjour-Ladouceur Virginie, Jadhav Mangesh, Skinner Jonathan R, Franciosi Sonia, Krahn Andrew D, Abdelsayed Mena, Ruben Peter C, Yung Tak-Cheung, Ackerman Michael J, Wilde Arthur A, Schwartz Peter J, Probst Vince |
| H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters. Journal of biomedical science 2017 Dec 24 (1): 91. Matsumura Hiroya, Nakano Yukiko, Ochi Hidenori, Onohara Yuko, Sairaku Akinori, Tokuyama Takehito, Tomomori Shunsuke, Motoda Chikaaki, Amioka Michitaka, Hironobe Naoya, Toshishige Masaaki, Takahashi Shinya, Imai Katsuhiko, Sueda Taijiro, Chayama Kazuaki, Kihara Yasu |
| Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death: Single-Center Experience With 482 Families. JACC. Clinical electrophysiology 2017 Dec 3 (12): 1400-1408. Tadros Rafik, Nannenberg Eline A, Lieve Krystien V, Škori?-Milosavljevi? Doris, Lahrouchi Najim, Lekanne Deprez Ronald H, Vendrik Jeroen, Reckman Yolan J, Postema Pieter G, Amin Ahmad S, Bezzina Connie R, Wilde Arthur A M, Tan Hanno |
| Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
| Surveillance after cardiac arrest in patients with Brugada syndrome without an implantable defibrillator: An alarm effect of the previous syncope. International journal of cardiology 2016 May 218 69-74. Calvo David, Flórez Juan Pablo, Valverde Irene, Rubín José, Pérez Diego, Vasserot Mar Gonzalez, Rodríguez-Reguero Julián, Avanzas Pablo, de la Hera Jesús María, Gómez Juan, Coto Eliecer, Martínez-Camblor Pablo, Morís Cés |
| An R1632C variant in the SCN5A gene causing Brugada syndrome. Molecular medicine reports 2016 Apr . García-Molina Esperanza, Sabater-Molina María, Muñoz Carmen, Ruiz-Espejo Francisco, Gimeno Juan |
| Prognostic significance of fever-induced Brugada syndrome. Heart rhythm : the official journal of the Heart Rhythm Society 2016 Mar . Mizusawa Yuka, Morita Hiroshi, Adler Arnon, Havakuk Ofer, Thollet Aurélie, Maury Philippe, Wang Dao W, Hong Kui, Gandjbakhch Estelle, Sacher Frédéric, Hu Dan, Amin Ahmad S, Lahrouchi Najim, Tan Hanno L, Antzelevitch Charles, Probst Vincent, Viskin Sami, Wilde Arthur A |
| Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current. Circulation. Arrhythmia and electrophysiology 2016 Jan 9 (1): . Nakano Yukiko, Ochi Hidenori, Onohara Yuko, Toshishige Masaaki, Tokuyama Takehito, Matsumura Hiroya, Kawazoe Hiroshi, Tomomori Shunsuke, Sairaku Akinori, Watanabe Yoshikazu, Ikenaga Hiroki, Motoda Chikaaki, Suenari Kazuyoshi, Hayashida Yasufumi, Miki Daiki, Oda Nozomu, Kishimoto Shinji, Oda Noboru, Yoshida Yukihiko, Tashiro Satoshi, Chayama Kazuaki, Kihara Yasu |
| 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 2016 5 (7): . Veltmann Christian, Barajas-Martinez Hector, Wolpert Christian, Borggrefe Martin, Schimpf Rainer, Pfeiffer Ryan, Cáceres Gabriel, Burashnikov Elena, Antzelevitch Charles, Hu D |
| High-throughput genetic characterization of a cohort of Brugada syndrome patients. Human molecular genetics 2015 Oct 24 (20): 5828-35. Di Resta Chiara, Pietrelli Alessandro, Sala Simone, Della Bella Paolo, De Bellis Gianluca, Ferrari Maurizio, Bordoni Roberta, Benedetti Sa |
| Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. Circulation. Cardiovascular genetics 2015 Aug 8 (4): 582-95. Kapplinger Jamie D, Giudicessi John R, Ye Dan, Tester David J, Callis Thomas E, Valdivia Carmen R, Makielski Jonathan C, Wilde Arthur A, Ackerman Michael |
| Contribution of Cardiac Sodium Channel ß-Subunit Variants to Brugada Syndrome. Circulation journal : official journal of the Japanese Circulation Society 2015 Jul . Peeters Uschi, Scornik Fabiana, Riuró Helena, Pérez Guillermo, Komurcu-Bayrak Evrim, Van Malderen Sophie, Pappaert Gudrun, Tarradas Anna, Pagans Sara, Daneels Dorien, Breckpot Karine, Brugada Pedro, Bonduelle Maryse, Brugada Ramon, Van Dooren Son |
| Genetics of Brugada syndrome. Journal of human genetics 2015 Jul . Watanabe Hiroshi, Minamino Toh |
| Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovascular research 2015 Jun 106 (3): 520-9. Behr Elijah R, Savio-Galimberti Eleonora, Barc Julien, Holst Anders G, Petropoulou Evmorfia, Prins Bram P, Jabbari Javad, Torchio Margherita, Berthet Myriam, Mizusawa Yuka, Yang Tao, Nannenberg Eline A, Dagradi Federica, Weeke Peter, Bastiaenan Rachel, Ackerman Michael J, Haunso Stig, Leenhardt Antoine, Kääb Stefan, Probst Vincent, Redon Richard, Sharma Sanjay, Wilde Arthur, Tfelt-Hansen Jacob, Schwartz Peter, Roden Dan M, Bezzina Connie R, Olesen Morten, Darbar Dawood, Guicheney Pascale, Crotti Lia, , Jamshidi Yal |
| SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. European journal of human genetics : EJHG 2015 Jun . Bissay Véronique, Van Malderen Sophie C H, Keymolen Kathelijn, Lissens Willy, Peeters Uschi, Daneels Dorien, Jansen Anna C, Pappaert Gudrun, Brugada Pedro, De Keyser Jacques, Van Dooren Son |
| Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Human molecular genetics 2015 May 24 (10): 2757-63. Le Scouarnec Solena, Karakachoff Matilde, Gourraud Jean-Baptiste, Lindenbaum Pierre, Bonnaud Stéphanie, Portero Vincent, Duboscq-Bidot Laëtitia, Daumy Xavier, Simonet Floriane, Teusan Raluca, Baron Estelle, Violleau Jade, Persyn Elodie, Bellanger Lise, Barc Julien, Chatel Stéphanie, Martins Raphaël, Mabo Philippe, Sacher Frédéric, Haïssaguerre Michel, Kyndt Florence, Schmitt Sébastien, Bézieau Stéphane, Le Marec Hervé, Dina Christian, Schott Jean-Jacques, Probst Vincent, Redon Richa |
| Novel SCN10A variants associated with Brugada syndrome. 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 2015 Apr . Fukuyama Megumi, Ohno Seiko, Makiyama Takeru, Horie Mino |
| Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
| Brugada syndrome risk loci seem protective against atrial fibrillation. European journal of human genetics : EJHG 2014 Dec 22 (12): 1357-61. Andreasen Laura, Nielsen Jonas B, Darkner Stine, Christophersen Ingrid E, Jabbari Javad, Refsgaard Lena, Thiis Jens J, Sajadieh Ahmad, Tveit Arnljot, Haunsø Stig, Svendsen Jesper H, Schmitt Nicole, Olesen Morten |
| SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction. Molecular medicine reports 2014 Oct 10 (4): 2039-44. Boehringer Tim, Bugert Peter, Borggrefe Martin, Elmas El |
| Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. Journal of the American College of Cardiology 2014 Jul 64 (1): 66-79. Hu Dan, Barajas-Martínez Hector, Pfeiffer Ryan, Dezi Fabio, Pfeiffer Jenna, Buch Tapan, Betzenhauser Matthew J, Belardinelli Luiz, Kahlig Kristopher M, Rajamani Sridharan, DeAntonio Harry J, Myerburg Robert J, Ito Hiroyuki, Deshmukh Pramod, Marieb Mark, Nam Gi-Byoung, Bhatia Atul, Hasdemir Can, Haïssaguerre Michel, Veltmann Christian, Schimpf Rainer, Borggrefe Martin, Viskin Sami, Antzelevitch Charl |
| [Clinical polymorphisms and approaches of arrhythmias treatment in a family with dKPQ1505-1507 deletion in SCN5A gene]. Vestnik Rossi?sko? akademii meditsinskikh nauk / Rossi?skaia akademiia meditsinskikh nauk 2014 (5-6): 52-9. Saber S, Houshmand M, Eftekhharzadeh M, Samiei Nasab, Fazelifar A F, Haghjoo M, Zakliaz'minskaia E V, Gavrilenko A |
| SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. Scientific reports 2014 4 6470. Ricci Maria Teresa, Menegon Silvia, Vatrano Simona, Mandrile Giorgia, Cerrato Natascia, Carvalho Paula, De Marchi Mario, Gaita Fiorenzo, Giustetto Carla, Giachino Daniela Frances |
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- Page last updated:Oct 13, 2021
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