Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

European Heart Journal

Volumn 32, Issue 9, 2011, Pages 1077-1088

  Templin, Christian ^a   Ghadri, Jelena Rima ^a   Rougier, Jean Sébastien ^b   Baumer, Alessandra ^a   Kaplan, Vladimir ^a   Albesa, Maxime ^b   Sticht, Heinrich ^c   Rauch, Anita ^a   Puleo, Colleen ^d   Hu, Dan ^d   Barajas Martinez, Héctor ^d   Antzelevitch, Charles ^d   Lüscher, Thomas F ^a,e   Abriel, Hugues ^b   Duru, Firat ^a,e  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^e UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Arrhythmia; Novel gene mutation; Short QT syndrome; Sudden cardiac death

Indexed keywords

BARIUM; CALCIUM CHANNEL L TYPE; CALCIUM CHANNEL L TYPE 1.2 ALPHA 1; CALCIUM CHANNEL L TYPE ALPHA 2 DELTA 1; CALCIUM CHANNEL L TYPE BETA 2B; CYSTEINE; GENOMIC DNA; GLYCINE; NEBIVOLOL; SERINE; THREONINE; UNCLASSIFIED DRUG; CACNA2D1 PROTEIN, HUMAN; CALCIUM CHANNEL;

ADOLESCENT; ARTICLE; CASE REPORT; CELL MEMBRANE; CELL STRAIN HEK293; DEFIBRILLATOR; DNA SEQUENCE; ELECTROCARDIOGRAM; ELECTROPHYSIOLOGY; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC CODE; HEART VENTRICLE FIBRILLATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; QT INTERVAL; SHORT QT SYNDROME; VOLTAGE CLAMP; WESTERN BLOTTING; WILD TYPE; CHANNELOPATHY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENETIC TRANSFECTION; GENETICS; HEART ARRHYTHMIA; HETEROZYGOTE; MALE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE;

ADOLESCENT; ARRHYTHMIAS, CARDIAC; BLOTTING, WESTERN; CALCIUM CHANNELS; CALCIUM CHANNELS, L-TYPE; CHANNELOPATHIES; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; TRANSFECTION;

EID: 84655160739     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehr076     Document Type: Article

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