LQT5 masquerading as LQT2: A dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current

Europace

Volumn 13, Issue 10, 2011, Pages 1478-1483

  Nof, Eyal ^a,b   Barajas Martinez, Hector ^a   Eldar, Michael ^b   Urrutia, Janire ^a,c   Caceres, Gabriel ^a   Rosenfeld, Gail ^b   Bar Lev, David ^b   Feinberg, Micha ^b   Burashnikov, Elena ^a   Casis, Oscar ^c   Hu, Dan ^a   Glikson, Michael ^b   Antzelevitch, Charles ^a  

^a MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^b SHEBA MEDICAL CENTER   (Israel)

^c UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

Arrhythmia; Athlete; Electrophysiology; Long QT syndrome

Indexed keywords

ASPARAGINE; ASPARTIC ACID; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BRADYCARDIA; CASE REPORT; CHILD; FEMALE; GENE FUNCTION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; LONG QT SYNDROME; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHENOTYPE; POTASSIUM CURRENT; PRIORITY JOURNAL; QT INTERVAL; SCHOOL CHILD; T WAVE;

ATHLETES; BRADYCARDIA; CHILD; DIAGNOSIS, DIFFERENTIAL; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; HUMANS; LONG QT SYNDROME; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS, VOLTAGE-GATED;

EID: 80053428955     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eur184     Document Type: Article

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