Publications:

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Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Frontiers In Cardiovascular Medicine

Zhang, Ziguan Z; Chen, Hongwei H; Chen, Wenbo W; Zhang, Zhenghao Z; Li, Runjing R; Xu, Jiajia J; Yang, Cui C; Chen, Minwei M; Liu, Shixiao S; Li, Yanling Y; Wang, TzungDau T; Tu, Xin X; Huang, Zhengrong Z

Publication Date: 2021

Variant appearance in text: SCN5A: Q55X

PubMed Link: 34422936

Variant Present in the following documents:

• Main text
• fcvm-08-714844.pdf

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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: Gln55Ter

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 13

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A case report of one vasovagal syncope patient with third-degree atrioventricular block caused by SCN5A gene mutation and literature review.

Bmc Pediatrics

Gao, Lu L; Yu, Xia X; Li, Hongxia H; Yuan, Yue Y

Publication Date: 2020-05-12

Variant appearance in text: SCN5A: Q55X

PubMed Link: 32398054

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2123.pdf

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Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Disease Markers

Thongnak, Chuphong C; Limprasert, Pornprot P; Tangviriyapaiboon, Duangkamol D; Silvilairat, Suchaya S; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Sukasem, Chonlaphat C; Chantratita, Wasun W

Publication Date: 2016

Variant appearance in text: SCN5A: Q55X

PubMed Link: 28018021

Variant Present in the following documents:

• Main text
• DM2016-3684965.pdf

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The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing

Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M

Publication Date: 2015-08

Variant appearance in text: SCN5A: Q55X

PubMed Link: 25863800

Variant Present in the following documents:

• Main text
• 10840_2015_Article_9998.pdf

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LQTS gene LOVD database.

Human Mutation

Zhang, Tao T; Moss, Arthur A; Cong, Peikuan P; Pan, Min M; Chang, Bingxi B; Zheng, Liangrong L; Fang, Quan Q; Zareba, Wojciech W; Robinson, Jennifer J; Lin, Changsong C; Li, Zhongxiang Z; Wei, Junfang J; Zeng, Qiang Q; , ; , ; Qi, Ming M

Publication Date: 2010-11

Variant appearance in text: SCN5A: Q55X

PubMed Link: 20809527

Variant Present in the following documents:

• humu0031-E1801.pdf

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Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Heart Rhythm

Medeiros-Domingo, Argelia A; Tan, Bi-Hua BH; Iturralde-Torres, Pedro P; Tester, David J DJ; Tusié-Luna, Teresa T; Makielski, Jonathan C JC; Ackerman, Michael J MJ

Publication Date: 2009-08

Variant appearance in text: SCN5A: Q55X

PubMed Link: 19632629

Variant Present in the following documents:

• Main text

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Vasovagal syncope or ventricular fibrillation. Your diagnosis better be accurate.

Clinical Autonomic Research : Official Journal Of The Clinical Autonomic Research Society

Wilde, Arthur A M AA; Wieling, Wouter W

Publication Date: 2007-08

Variant appearance in text: LQT3: Q55X

PubMed Link: 17665091

Variant Present in the following documents:

• 10286_2007_Article_432.pdf

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