Spectrum and prevalence of mutations involving BrS1- Through BrS12-susceptibility genes in a cohort of unrelated patients referred for brugada syndrome genetic testing: Implications for genetic testing

Journal of the American College of Cardiology

Volumn 60, Issue 15, 2012, Pages 1410-1418

  Crotti, Lia ^a,b,c   Marcou, Cherisse A ^d   Tester, David J ^d   Castelletti, Silvia ^a,b   Giudicessi, John R ^d,e   Torchio, Margherita ^b   Medeiros Domingo, Argelia ^d   Simone, Savastano ^b   Will, Melissa L ^d   Dagradi, Federica ^a,b   Schwartz, Peter J ^a,b,f,g,h   Ackerman, Michael J ^d  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d MAYO CLINIC   (United States)

^e MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF CAPE TOWN   (South Africa)

^g STELLENBOSCH UNIVERSITY   (South Africa)

^h KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

Brugada syndrome; cardiac arrest; genetic testing; ST segment elevation; ventricular arrhythmias

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ALLELE; ARTICLE; BRS1 GENE; BRS12 GENE; BRUGADA SYNDROME; CACNB2B GENE; CAUCASIAN; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DENATURATION; DNA SEQUENCE; ELECTROCARDIOGRAPHY; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HCN4 GENE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; KCNJ3 GENE; KCNJ8 GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SCN1BB GENE; SCN5A GENE; SPECTRUM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BRUGADA SYNDROME; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION RATE; PREVALENCE; YOUNG ADULT;

EID: 84867081985     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2012.04.037     Document Type: Article

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