A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Hennessey, Jessica A ^a   Boczek, Nicole J ^b   Jiang, Yong Hui ^a   Miller, Joelle D ^c   Patrick, William ^a   Pfeiffer, Ryan ^d   Sutphin, Brittan S ^b   Tester, David J ^b   Barajas Martinez, Hector ^d   Ackerman, Michael J ^b   Antzelevitch, Charles ^d   Kanter, Ronald ^a   Pitt, Geoffrey S ^a  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c VIRGINIA TECH CARILION SCHOOL OF MEDICINE   (United States)

^d MASONIC MEDICAL RESEARCH LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL CAV1.2; PROPRANOLOL; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; CACNA1C PROTEIN, HUMAN; CALCIUM CHANNEL L TYPE; L-TYPE CALCIUM CHANNEL ALPHA(1C);

ADOLESCENT; AMINO ACID SUBSTITUTION; ARRHYTHMOGENESIS; ARTICLE; ATROPHY; CACNA1C GENE; CALCIUM CURRENT; CASE REPORT; CEREBRAL PALSY; CONTROLLED STUDY; DENTAL CARIES; DISEASE PREDISPOSITION; ETHNICITY; EXON; FILIPINO (PEOPLE); GAIT DISORDER; GENE DELETION; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE INACTIVATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; HUMAN; HYPERREFLEXIA; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; INTRON; LANGUAGE DELAY; LIMB WEAKNESS; MALE; MICROCEPHALY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; QT PROLONGATION; RHABDOMYOLYSIS; SEIZURE; SHORT STATURE; SUPT3H GENE; AUTISM; FEMALE; GENETICS; INFANT; LONG QT SYNDROME; MEMBRANE POTENTIAL; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SYNDACTYLY;

AUTISTIC DISORDER; CALCIUM CHANNELS, L-TYPE; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LONG QT SYNDROME; MALE; MEMBRANE POTENTIALS; MUTATION; SYNDACTYLY;

EID: 84906957545     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0106982     Document Type: Article

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