Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8

Heart Rhythm

Volumn 9, Issue 4, 2012, Pages 548-555

  Barajas Martínez, Hector ^a   Hu, Dan ^a   Ferrer, Tania ^b   Onetti, Carlos G ^b   Wu, Yuesheng ^a   Burashnikov, Elena ^a   Boyle, Madalene ^a   Surman, Tyler ^a   Urrutia, Janire ^a   Veltmann, Christian ^c   Schimpf, Rainer ^c   Borggrefe, Martin ^c   Wolpert, Christian ^d   Ibrahim, Bassiema B ^e   Sánchez Chapula, José Antonio ^b   Winters, Stephen ^f   Haïssaguerre, Michel ^g   Antzelevitch, Charles ^a  

^a MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^b UNIVERSIDAD DE COLIMA   (Mexico)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d KLINIKUM LUDWIGSBURG   (Germany)

^e Cardiovascular Medical Associates   (United States)

^f MORRISTOWN MEMORIAL HOSPITAL   (United States)

^g HAUT LÉVÊQUE HOSPITAL   (France)

Author keywords

ATP sensitive potassium channel; Electrophysiology; Hotspot mutation; J wave syndrome; Short QT; Sudden cardiac death; Ventricular Tachycardia

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; GLIBENCLAMIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.1;

ADULT; AGED; ALLELE; ARTICLE; BRUGADA SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EARLY REPOLARIZATION SYNDROME; ETHNICITY; FEMALE; GAIN OF FUNCTION MUTATION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEART DISEASE; HEART REPOLARIZATION; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PATCH CLAMP; PRIORITY JOURNAL; WHOLE CELL; WILD TYPE;

ADULT; AGED; BRUGADA SYNDROME; DEATH, SUDDEN, CARDIAC; FEMALE; FRANCE; HUMANS; KATP CHANNELS; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION, MISSENSE; STATISTICS AS TOPIC; SYNDROME; TACHYCARDIA, VENTRICULAR; YOUNG ADULT;

EID: 84862778065     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2011.10.035     Document Type: Article

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