Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

Journal of Molecular and Cellular Cardiology

Volumn 80, Issue , 2015, Pages 186-195

  Wemhöner, Konstantin ^a   Friedrich, Corinna ^b   Stallmeyer, Birgit ^b   Coffey, Alison J ^d   Grace, Andrew ^e,g   Zumhagen, Sven ^b   Seebohm, Guiscard ^b   Ortiz Bonnin, Beatriz ^a   Rinné, Susanne ^a   Sachse, Frank B ^c,f   Schulze Bahr, Eric ^b   Decher, Niels ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f Department of Bioengineering James LeVoy Sorenson Molecular Biotechnology Building ^*  (United States)

^g PAPWORTH HOSPITAL   (United Kingdom)

Author keywords

Arrhythmia; Cav1.2; Gain of function; LQT8; Timothy syndrome

Indexed keywords

CALCIUM CHANNEL CAV1.2; CALCIUM CHANNEL L TYPE; UNCLASSIFIED DRUG; CACNA1C PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CACNA1C GENE; CALCIUM CURRENT; CALCIUM SIGNALING; CHILD; CONTROLLED STUDY; DNA FLANKING REGION; ELECTROCARDIOGRAM; EMBRYO; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE FREQUENCY; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HEART CONDUCTION; HEART MUSCLE FIBER MEMBRANE POTENTIAL; HEART MUSCLE POTENTIAL; HEART REPOLARIZATION; HETEROZYGOTE; HUMAN; HUMAN CELL; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; NONHUMAN; PHENOTYPE; QT INTERVAL; QT PROLONGATION; SINGLE NUCLEOTIDE POLYMORPHISM; STEADY STATE; TIMOTHY SYNDROME; WILD TYPE; XENOPUS LAEVIS; ACTION POTENTIAL; AMINO ACID SUBSTITUTION; AUTISM; CELL LINE; CHEMISTRY; ELECTROCARDIOGRAPHY; GENE EXPRESSION; GENETICS; INFANT; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; PROTEIN DOMAIN; SYNDACTYLY; YOUNG ADULT;

PHLEUM PRATENSE;

ACTION POTENTIALS; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AUTISTIC DISORDER; CALCIUM CHANNELS, L-TYPE; CALCIUM SIGNALING; CELL LINE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GENE EXPRESSION; GENETIC VARIATION; HUMANS; INFANT; LONG QT SYNDROME; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN INTERACTION DOMAINS AND MOTIFS; SYNDACTYLY; YOUNG ADULT;

EID: 84922390828     PISSN: 00222828     EISSN: 10958584     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2015.01.002     Document Type: Article

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