A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome

Journal of Cardiovascular Electrophysiology

Volumn 19, Issue 5, 2008, Pages 541-549

  Ikrar, Taruna ^a   Hanawa, Haruo ^a   Watanabe, Hiroshi ^a,b   Okada, Shinsuke ^a   Aizawa, Yoshiyasu ^a,c,d   Ramadan, Mahmoud M ^a   Komura, Satoru ^a   Yamashita, Fumio ^a   Chinushi, Masaomi ^a   Aizawa, Yoshifusa ^a  

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

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^d First Department of Internal Medicine   (Japan)

Author keywords

Arrhythmia; KCNQ1; Long QT syndrome; Potassium channel; Selectivity filter

Indexed keywords

ISOLEUCINE; LYSINE; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNQ1;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL MEMBRANE; CELL STRAIN COS7; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE AMPLIFICATION; GENE LOCATION; GENETIC CONSERVATION; GENETIC TRANSFECTION; HUMAN; LONG QT SYNDROME; MALE; MULTIGENE FAMILY; NONHUMAN; PHENOTYPE; PLASMID; POINT MUTATION; POLYMERASE CHAIN REACTION; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN DOMAIN; QT INTERVAL; SYNCOPE;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 43049144236     PISSN: 10453873     EISSN: 15408167     Source Type: Journal    
DOI: 10.1111/j.1540-8167.2007.01076.x     Document Type: Article

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