A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome

Journal of Cardiovascular Electrophysiology

Volumn 18, Issue 9, 2007, Pages 972-977

  Aizawa, Yoshiyasu ^a,b   Ueda, Kazuo ^c   Scornik, Fabiana ^a   Cordeiro, Jonathan M ^a   Wu, Yuesheng ^a   Desai, Mayurika ^a   Guerchicoff, Alejandra ^a   Nagata, Yasutoshi ^d   Iesaka, Yoshito ^d   Kimura, Akinori ^c   Hiraoka, Masayasu ^c   Antzelevitch, Charles ^a  

^a MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d TSUCHIURA KYODO GENERAL HOSPITAL   (Japan)

Author keywords

Electrophysiology; Inherited syndrome; Ion channel; Mutation; Torsade de Pointes

Indexed keywords

ADRENALIN; INTERMEDIATE CONDUCTANCE CALCIUM ACTIVATED POTASSIUM CHANNEL; PHENYLALANINE; POTASSIUM CHANNEL KCNQ1;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL MIGRATION; CODON; ELECTROSTIMULATION; EXERCISE TEST; FEMALE; GENE CONSTRUCT; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEART ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HUMAN; IMMUNOHISTOCHEMISTRY; LONG QT SYNDROME; NONHUMAN; NUCLEOTIDE SEQUENCE; PATCH CLAMP; POLYMORPHIC VENTRICULAR TACHYCARDIA; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; QT PROLONGATION; TREADMILL EXERCISE; WILD TYPE;

ADOLESCENT; ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HEART CONDUCTION SYSTEM; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME;

EID: 34548321506     PISSN: 10453873     EISSN: 15408167     Source Type: Journal    
DOI: 10.1111/j.1540-8167.2007.00889.x     Document Type: Article

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