Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome

International Journal of Cardiology

Volumn 165, Issue 2, 2013, Pages 362-365

  Detta, Nicola ^a   Frisso, Giulia ^a,b   Zullo, Alberto ^a,f   Sarubbi, Berardo ^c   Cozzolino, Carla ^b   Romeo, Emanuele ^c   Wang, Dao W ^d   Calabrò, Raffaele ^c   Salvatore, Francesco ^a,e   George Jr , Alfred L ^d  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d VANDERBILT UNIVERSITY   (United States)

^e IRCCS SDN   (Italy)

^f UNIVERSITY OF SANNIO   (Italy)

Author keywords

Cardiac arrhythmias; Electrophysiology; Long QT syndrome; SCN5A; Sodium channel

Indexed keywords

ASPARAGINE; METOPROLOL; MEXILETINE; SODIUM; SODIUM CHANNEL NAV1.5; AMINO ACID; SODIUM CHANNEL;

ADULT; CESAREAN SECTION; CHANNEL GATING; CLINICAL ARTICLE; DEFIBRILLATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FAINTNESS; FAMILY HISTORY; FAMILY STUDY; FEMALE; FOLLOW UP; GAIN OF FUNCTION MUTATION; GENE DELETION; GENE EXPRESSION; GENETIC ANALYSIS; GENOTYPE; HEART ARREST; HERITABILITY; HETEROZYGOSITY; HOLTER MONITORING; HUMAN; ITALY; LETTER; LONG QT SYNDROME; LOSS OF FUNCTION MUTATION; MALE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; QT INTERVAL; RESUSCITATION; SCN5A GENE; SITE DIRECTED MUTAGENESIS; SODIUM CURRENT; SUDDEN DEATH; WILD TYPE; CASE REPORT; CLINICAL FEATURE; ELECTROCARDIOGRAM; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART MUSCLE CONDUCTION DISTURBANCE; KCNE1 GENE; KCNE2 GENE; KCNH2 GENE; KCNQ1 GENE; LONG QT SYNDROME 3; PATCH CLAMP TECHNIQUE; QT PROLONGATION; RISK REDUCTION;

EID: 84876687325     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2012.08.032     Document Type: Article

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