A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1

Heart Rhythm

Volumn 10, Issue 4, 2013, Pages 600-603

  Yoshikane, Yukako ^a   Yoshinaga, Masao ^b   Hamamoto, Kunihiro ^c   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION KAGOSHIMA MEDICAL CENTER   (Japan)

^c INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

Author keywords

Compound mutation; Digenic mutation; KCNE1; KCNH2; molecular screening; SCN5A

Indexed keywords

KCNH2 PROTEIN; MEXILETINE; POTASSIUM CHANNEL KCNE1; PROTEIN; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG;

ARTICLE; BRADYCARDIA; CASE REPORT; CHILD; DNA SEQUENCE; DRUG DOSE INCREASE; ELECTROCARDIOGRAM; EMOTIONAL STRESS; FAINTNESS; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOLTER MONITORING; HUMAN; LONG QT SYNDROME; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; QT PROLONGATION; SCHOOL CHILD; SEIZURE; T WAVE; TORSADE DES POINTES; URINE INCONTINENCE;

CHILD; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FOLLOW-UP STUDIES; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; LONG QT SYNDROME; MALE; MEXILETINE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS, VOLTAGE-GATED; RISK ASSESSMENT; SEIZURES; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

EID: 84875727028     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2012.12.008     Document Type: Article

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