Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

Heart Rhythm

Volumn 6, Issue 9, 2009, Pages 1297-1303

  Kapplinger, Jamie D ^a   Tester, David J ^a   Salisbury, Benjamin A ^b   Carr, Janet L ^b   Harris Kerr, Carole ^b   Pollevick, Guido D ^b   Wilde, Arthur A M ^c   Ackerman, Michael J ^a  

^a Windland Smith Rice Sudden Death Genomics Laboratory   (United States)

^b PGxHealth LLC   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Genetic testing; Long QT syndrome; Potassium channels; Sodium channels

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL; ERG1 POTASSIUM CHANNEL; KCNE1 PROTEIN, HUMAN; KCNE2 PROTEIN, HUMAN; KCNQ1 PROTEIN, HUMAN; MUSCLE PROTEIN; POTASSIUM CHANNEL HERG; SCN5A PROTEIN, HUMAN; SODIUM CHANNEL NAV1.5; VOLTAGE GATED POTASSIUM CHANNEL;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; INFANT; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATIENT REFERRAL; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; GENETICS; MIDDLE AGED; MUTATION; NEWBORN; PREVALENCE; RETROSPECTIVE STUDY; RISK FACTOR; UNITED STATES; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; PREVALENCE; RETROSPECTIVE STUDIES; RISK FACTORS; SODIUM CHANNELS; UNITED STATES; YOUNG ADULT;

EID: 68949209933     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2009.05.021     Document Type: Article

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