Identification and Functional Characterization of a Novel CACNA1C -Mediated Cardiac Disorder Characterized by Prolonged QT Intervals with Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death

Circulation: Arrhythmia and Electrophysiology

Volumn 8, Issue 5, 2015, Pages 1122-1132

  Boczek, Nicole J ^a   Ye, Dan ^a   Jin, Fang ^b   Tester, David J ^a   Huseby, April ^b   Bos, J Martijn ^a   Johnson, Aaron J ^b   Kanter, Ronald ^d,e   Ackerman, Michael J ^a,c  

^a MAYO GRADUATE SCHOOL   (United States)

^b Division of Immunology and Neurology   (United States)

^c Departments of Medicine Division of Cardiovascular Diseases Pediatrics (Division of Pediatric Cardiology)   (United States)

^d MAYO CLINIC   (United States)

^e NICKLAUS CHILDREN S HOSPITAL   (United States)

Author keywords

calcium channels, L type; cardiomyopathy, hypertrophic; death, sudden, cardiac; genetics; long QT syndrome; Timothy syndrome

Indexed keywords

ARGININE; CALCIUM CHANNEL L TYPE; CALCIUM CHANNEL L TYPE CACNA1C; CYSTEINE; HISTIDINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CURRENT DENSITY; EXOME; EXON; FAMILY HISTORY; FEMALE; GAIN OF FUNCTION MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART DISEASE; HEART ELECTROPHYSIOLOGY; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; LOSS OF FUNCTION MUTATION; MALE; MEDICAL HISTORY; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; QT PROLONGATION; SCHOOL CHILD; SUDDEN CARDIAC DEATH; TIMOTHY SYNDROME; WHOLE CELL PATCH CLAMP; AUTISM; GENETICS; LONG QT SYNDROME; NUCLEOTIDE SEQUENCE; PATCH CLAMP TECHNIQUE; SYNDACTYLY;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PEDIGREE; PHENOTYPE; SYNDACTYLY;

EID: 84944686135     PISSN: 19413149     EISSN: 19413084     Source Type: Journal    
DOI: 10.1161/CIRCEP.115.002745     Document Type: Article

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