Novel Timothy syndrome mutation leading to increase in CACNA1C window current

Heart Rhythm

Volumn 12, Issue 1, 2015, Pages 211-219

  Boczek, Nicole J ^a,b   Miller, Erin M ^c   Ye, Dan ^a   Nesterenko, Vladislav V ^d   Tester, David J ^a   Antzelevitch, Charles ^d   Czosek, Richard J ^c   Ackerman, Michael J ^a   Ware, Stephanie M ^e  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CACNA1C; Genetics; Timothy syndrome; Whole exome sequencing; Window current

Indexed keywords

CALCIUM CHANNEL L TYPE; CACNA1C PROTEIN, HUMAN;

ADULT; ARTICLE; CACNA1C GENE; CASE REPORT; ELECTROPHYSIOLOGY; EXOME; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HEART MUSCLE POTENTIAL; HUMAN; HUMAN CELL; MISSENSE MUTATION; NEUROLOGIC DISEASE; PRIORITY JOURNAL; QT PROLONGATION; SYNDACTYLY; TIMOTHY SYNDROME; WHOLE CELL PATCH CLAMP; GENETICS; HEART BLOCK; INFANT; LONG QT SYNDROME; MALE; MUTATION;

CALCIUM CHANNELS, L-TYPE; HEART BLOCK; HUMANS; INFANT; LONG QT SYNDROME; MALE; MUTATION; SYNDACTYLY;

EID: 84920666976     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2014.09.051     Document Type: Article

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