Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K ATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

Heart Rhythm

Volumn 7, Issue 10, 2010, Pages 1466-1471

  Medeiros Domingo, Argelia ^a   Tan, Bi Hua ^b   Crotti, Lia ^c,d,e   Tester, David J ^a   Eckhardt, Lee ^b   Cuoretti, Alessandra ^d,e   Kroboth, Stacie L ^b   Song, Chunhua ^b   Zhou, Qing ^b   Kopp, Doug ^b   Schwartz, Peter J ^c,d,e,f,g   Makielski, Jonathan C ^b   Ackerman, Michael J ^a  

^a Windland Smith Rice Sudden Death Genomics Laboratory   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^f UNIVERSITY OF CAPE TOWN   (South Africa)

^g KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

Early ventricular repolarization; Genetic disease; Idiopathic ventricular fibrillation; Ion channel; J wave syndrome; KATP channel; Sudden cardiac death

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.1;

ARTICLE; BRUGADA SYNDROME; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; J WAVE SYNDROME; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

ADULT; ARRHYTHMIAS, CARDIAC; BRUGADA SYNDROME; CELLS, CULTURED; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COMPUTERS, HANDHELD; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KATP CHANNELS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; MYOCARDIUM; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 77957268950     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.06.016     Document Type: Article

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