A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents

Cardiovascular Research

Volumn 93, Issue 4, 2012, Pages 666-673

  Hattori, Tetsuhisa ^a   Makiyama, Takeru ^a   Akao, Masaharu ^b   Ehara, Eiji ^c   Ohno, Seiko ^a   Iguchi, Moritake ^b   Nishio, Yukiko ^a   Sasaki, Kenichi ^a   Itoh, Hideki ^d   Yokode, Masayuki ^e   Kita, Toru ^f   Horie, Minoru ^d   Kimura, Takeshi ^a  

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION KYOTO MEDICAL CENTER   (Japan)

^c OSAKA CITY GENERAL HOSPITAL   (Japan)

^d SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^e KYOTO UNIVERSITY HOSPITAL   (Japan)

^f KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

Author keywords

Arrhythmia (mechanisms); Atrial fibrillation; Inward rectification; K channel; Short QT syndrome

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1;

AMINO ACID SUBSTITUTION; ANIMAL CELL; CASE REPORT; CHILD; DISEASE ASSOCIATION; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; HEART ATRIUM FIBRILLATION; HEART MUSCLE CELL; HEART MUSCLE POTENTIAL; HEART VENTRICLE ARRHYTHMIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; KCNJ2 GENE; NEWBORN; NONHUMAN; POTASSIUM CURRENT; PRIORITY JOURNAL; RAT; REVIEW; SHORT QT SYNDROME; SUDDEN DEATH; WILD TYPE;

ACTION POTENTIALS; ANIMALS; CELLS, CULTURED; CHILD; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LOWN-GANONG-LEVINE SYNDROME; MODELS, ANIMAL; MUTATION; MYOCYTES, CARDIAC; PATCH-CLAMP TECHNIQUES; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RATS; RATS, WISTAR; TRANSFECTION;

EID: 84857981375     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvr329     Document Type: Review

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