Publications:

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: T187I

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.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: Thr187Ile

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 13

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Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome.

Journal Of The American Heart Association

Aizawa, Yoshiyasu Y; Fujisawa, Taishi T; Katsumata, Yoshinori Y; Kohsaka, Shun S; Kunitomi, Akira A; Ohno, Seiko S; Sonoda, Keiko K; Hayashi, Hidemori H; Hojo, Rintaro R; Fukamizu, Seiji S; Nagase, Satoshi S; Ito, Shogo S; Nakajima, Kazuaki K; Nishiyama, Takahiko T; Kimura, Takehiro T; Kurita, Yasuo Y; Furukawa, Yoshiko Y; Takatsuki, Seiji S; Ogawa, Satoshi S; Nakazato, Yuji Y; Sumiyoshi, Masataka M; Kosaki, Kenjiro K; Horie, Minoru M; Fukuda, Keiichi K

Publication Date: 2018-09-18

Variant appearance in text: SCN5A: 560C>T; Thr187Ile

PubMed Link: 30371189

Variant Present in the following documents:

• Main text

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: T187I

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

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Brugada syndrome and sinus node dysfunction.

Journal Of Arrhythmia

Hayashi, Hidemori H; Sumiyoshi, Masataka M; Nakazato, Yuji Y; Daida, Hiroyuki H

Publication Date: 2018-06

Variant appearance in text: SCN5A: T187I

PubMed Link: 29951135

Variant Present in the following documents:

• Main text
• JOA3-34-216.pdf

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Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing.

Nature Communications

Romero-Hidalgo, Sandra S; Ochoa-Leyva, Adrián A; Garcíarrubio, Alejandro A; Acuña-Alonzo, Victor V; Antúnez-Argüelles, Erika E; Balcazar-Quintero, Martha M; Barquera-Lozano, Rodrigo R; Carnevale, Alessandra A; Cornejo-Granados, Fernanda F; Fernández-López, Juan Carlos JC; García-Herrera, Rodrigo R; García-Ortíz, Humberto H; Granados-Silvestre, Ángeles Á; Granados, Julio J; Guerrero-Romero, Fernando F; Hernández-Lemus, Enrique E; León-Mimila, Paola P; Macín-Pérez, Gastón G; Martínez-Hernández, Angélica A; Menjivar, Marta M; Morett, Enrique E; Orozco, Lorena L; Ortíz-López, Guadalupe G; Pérez-Villatoro, Fernando F; Rivera-Morales, Javier J; Riveros-McKay, Fernando F; Villalobos-Comparán, Marisela M; Villamil-Ramírez, Hugo H; Villarreal-Molina, Teresa T; Canizales-Quinteros, Samuel S; Soberón, Xavier X

Publication Date: 2017-10-18

Variant appearance in text: SCN5A: T187I

PubMed Link: 29044207

Variant Present in the following documents:

• Main text
• 41467_2017_Article_1194.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: T187I

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Murine Electrophysiological Models of Cardiac Arrhythmogenesis.

Physiological Reviews

Huang, Christopher L-H CL

Publication Date: 2017-01

Variant appearance in text: SCN5A: T187I

PubMed Link: 27974512

Variant Present in the following documents:

• Main text

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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

Publication Date: 2016-07-05

Variant appearance in text: SCN5A: T187I

PubMed Link: 27381756

Variant Present in the following documents:

• Main text
• JAH3-5-e003379.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SCN5A: T187I

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN5A: T187I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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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: Nav1.5: T187I

PubMed Link: 25863800

Variant Present in the following documents:

• Main text
• 10840_2015_Article_9998.pdf

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Pathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models.

Frontiers In Physiology

Huang, Christopher L-H CL; Lei, Lily L; Matthews, Gareth D K GD; Zhang, Yanmin Y; Lei, Ming M

Publication Date: 2012

Variant appearance in text: Nav1.5: T187I

PubMed Link: 22783200

Variant Present in the following documents:

• Main text
• fphys-03-00234.pdf

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Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.

Plos One

Gui, Junhong J; Wang, Tao T; Jones, Richard P O RP; Trump, Dorothy D; Zimmer, Thomas T; Lei, Ming M

Publication Date: 2010-06-07

Variant appearance in text: SCN5A: T187I

PubMed Link: 20539757

Variant Present in the following documents:

• Main text
• pone.0010985.pdf

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Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.

Acta Physiologica (Oxford, England)

Zhang, Y Y; Wang, T T; Ma, A A; Zhou, X X; Gui, J J; Wan, H H; Shi, R R; Huang, C C; Grace, A A AA; Huang, C L-H CL; Trump, D D; Zhang, H H; Zimmer, T T; Lei, M M

Publication Date: 2008-12

Variant appearance in text: SCN5A: T187I

PubMed Link: 18616619

Variant Present in the following documents:

• Main text
• aps0194-0311.pdf

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