Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: Syndrome and NAV1[original query] |
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Gastrointestinal symptoms in families of patients with an SCN5A-encoded cardiac channelopathy: evidence of an intestinal channelopathy. The American journal of gastroenterology 2006 Jun 101 (6): 1299-304. Locke G Richard, Ackerman Michael J, Zinsmeister Alan R, Thapa Prabin, Farrugia Gianri |
A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia. BMC musculoskeletal disorders 2012 13 (1): 23. Vargas-Alarcon Gilberto, Alvarez-Leon Edith, Fragoso Jose-Manuel, Vargas Angelica, Martinez Aline, Vallejo Maite, Martinez-Lavin Manu |
Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5. Circulation journal : official journal of the Japanese Circulation Society 2012 Dec . Ishikawa T, Takahashi N, Ohno S, Sakurada H, Nakamura K, On YK, Park JE, Makiyama T, Horie M, Arimura T, Makita N, Kimura A |
Long QT syndrome-associated mutations in intrauterine fetal death. JAMA 2013 Apr 309 (14): 1473-82. Crotti Lia, Tester David J, White Wendy M, Bartos Daniel C, Insolia Roberto, Besana Alessandra, Kunic Jennifer D, Will Melissa L, Velasco Ellyn J, Bair Jennifer J, Ghidoni Alice, Cetin Irene, Van Dyke Daniel L, Wick Myra J, Brost Brian, Delisle Brian P, Facchinetti Fabio, George Alfred L, Schwartz Peter J, Ackerman Michael |
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 |
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 |
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 |
Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology 2014 Jun 146 (7): 1659-68. Beyder Arthur, Mazzone Amelia, Strege Peter R, Tester David J, Saito Yuri A, Bernard Cheryl E, Enders Felicity T, Ek Weronica E, Schmidt Peter T, Dlugosz Aldona, Lindberg Greger, Karling Pontus, Ohlsson Bodil, Gazouli Maria, Nardone Gerardo, Cuomo Rosario, Usai-Satta Paolo, Galeazzi Francesca, Neri Matteo, Portincasa Piero, Bellini Massimo, Barbara Giovanni, Camilleri Michael, Locke G Richard, Talley Nicholas J, D'Amato Mauro, Ackerman Michael J, Farrugia Gianri |
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 |
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 |
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 |
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 |
Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE). Brain research 2017 9 1677 26-32. Binini N, Sancini G, Villa C, Dal Magro R, Sansoni V, Rusconi R, Mantegazza M, Grioni D, Talpo F, Toselli M, Combi |
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. Lancet (London, England) 2018 4 391 (10129): 1483-1492. Männikkö Roope, Wong Leonie, Tester David J, Thor Michael G, Sud Richa, Kullmann Dimitri M, Sweeney Mary G, Leu Costin, Sisodiya Sanjay M, FitzPatrick David R, Evans Margaret J, Jeffrey Iona J M, Tfelt-Hansen Jacob, Cohen Marta C, Fleming Peter J, Jaye Amie, Simpson Michael A, Ackerman Michael J, Hanna Michael G, Behr Elijah R, Matthews Em |
Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population. Journal of the American Heart Association 2018 01 7 (1): . Huang Lei, Wu Kuo-Ho, Zhang Liyong, Wang Qinchuan, Tang Shuangbo, Wu Qiuping, Jiang Pei-Hsiu, Lin Jim Jung-Ching, Guo Jian, Wang Lin, Loh Shih-Hurng, Cheng Jiandi |
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients. Frontiers in neurology 2020 8 11 646. Maggi Lorenzo, Brugnoni Raffaella, Canioni Eleonora, Tonin Paola, Saletti Veronica, Sola Patrizia, Piccinelli Stefano Cotti, Colleoni Lara, Ferrigno Paola, Pini Antonella, Masson Riccardo, Manganelli Fiore, Lietti Daniele, Vercelli Liliana, Ricci Giulia, Bruno Claudio, Tasca Giorgio, Pizzuti Antonio, Padovani Alessandro, Fusco Carlo, Pegoraro Elena, Ruggiero Lucia, Ravaglia Sabrina, Siciliano Gabriele, Morandi Lucia, Dubbioso Raffaele, Mongini Tiziana, Filosto Massimiliano, Tramacere Irene, Mantegazza Renato, Bernasconi P |
Induced Pluripotent Stem Cell-Derived Cardiomyocytes with SCN5A R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes. Biology 2021 10 10 (10): . Hayama Emiko, Furutani Yoshiyuki, Kawaguchi Nanako, Seki Akiko, Nagashima Yoji, Okita Keisuke, Takeuchi Daiji, Matsuoka Rumiko, Inai Kei, Hagiwara Nobuhisa, Nakanishi Tosh |
Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome. Frontiers in pharmacology 2022 9 13 984299. Zaklyazminskaya Elena, Shestak Anna, Podolyak Dmitry, Komoliatova Vera, Makarov Leonid, Novitskaya Anna, Revishvili Amir |
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- Page last updated:May 06, 2024
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