Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

Canadian Journal of Cardiology

Volumn 25, Issue 3, 2009, Pages 156-160

  Tfelt Hansen, Jacob ^a,b   Jespersen, Thomas ^b,e   Hofman Bang, Jacob ^b,c   Rasmussen, Hanne Borger ^a,b   Cedergreen, Pernille ^a,b   Skovby, Flemming ^d   Abriel, Hugues ^e   Svendsen, Jesper Hastrup ^a,b   Olesen, Soren Peter ^a,b   Christiansen, Michael ^b,c   Haunso, Stig ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b DANISH NATIONAL RESEARCH FOUNDATION   (Denmark)

^c STATENS SERUM INSTITUT   (Denmark)

^d Copenhagen University Hospital ^*  (Denmark)

^e UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

5CN5A; Brugada syndrome; Delection; Electraphysiology; Haploinsufficiency

Indexed keywords

AMIODARONE; MAGNESIUM; SCN5A PROTEIN; SODIUM CHANNEL; UNCLASSIFIED DRUG; MUSCLE PROTEIN; SCN5A PROTEIN, HUMAN;

ADULT; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CONTROLLED STUDY; DEFIBRILLATOR; DENMARK; DYSPNEA; ELECTROPHYSIOLOGY; FAMILY HISTORY; FRAMESHIFT MUTATION; GENETIC SCREENING; HEART RIGHT BUNDLE BRANCH BLOCK; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HETEROLOGOUS EXPRESSION; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; SODIUM CURRENT; ST SEGMENT ELEVATION; THORAX PAIN; CHROMOSOME DELETION; ELECTROCARDIOGRAPHY; GENETIC TRANSFECTION; GENETICS; PATCH CLAMP; PEDIGREE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; BRUGADA SYNDROME; CHROMOSOME DELETION; ELECTROCARDIOGRAPHY; FRAMESHIFT MUTATION; HUMANS; MALE; MUSCLE PROTEINS; PATCH-CLAMP TECHNIQUES; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SODIUM CHANNELS; TACHYCARDIA, VENTRICULAR; TRANSFECTION;

EID: 65449153647     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0828-282X(09)70043-1     Document Type: Article

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