Reduced penetrance and variable expression of SCN5A mutations and the importance of co-inherited genetic variants: Case report and review of the literature

Indian Pacing and Electrophysiology Journal

Volumn 14, Issue 3, 2014, Pages 133-149

  Robyns, T ^a   Nuyens, D ^a   Van Casteren, L ^a   Corveleyn, A ^a   De Ravel, T ^a   Heidbuchel, H ^a   Willems, R ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Brugada syndrome; Genetic variants; SCN5A disease

Indexed keywords

SODIUM CHANNEL NAV1.5;

ABLATION THERAPY; ADOLESCENT; ARTICLE; ARTIFICIAL HEART PACEMAKER; BRADYCARDIA; CARDIOVERSION; CASE REPORT; CONSULTATION; ELECTROCARDIOGRAM; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HEART ATRIUM FLUTTER; HEART PALPITATION; HETEROZYGOSITY; HOLTER MONITORING; HUMAN; INHERITANCE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESYNCOPE; SCN5A GENE; SPONTANEOUS ATRIAL TACHYARRHYTHMIA; TACHYCARDIA; TRANSTHORACIC ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENE EXPRESSION; MUTATIONAL ANALYSIS; SINUS ARRHYTHMIA; UNCONSCIOUSNESS;

EID: 84901639027     PISSN: None     EISSN: 09726292     Source Type: Journal    
DOI: 10.1016/S0972-6292(16)30754-9     Document Type: Article

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