Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A

Heart Rhythm

Volumn 6, Issue 8, 2009, Pages 1170-1175

  Medeiros Domingo, Argelia ^b   Tan, Bi Hua ^c   Iturralde Torres, Pedro ^d   Tester, David J ^b   Tusié Luna, Teresa ^a   Makielski, Jonathan C ^c   Ackerman, Michael J ^b  

^a INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^b Molecular Pharmacology and Experimental Therapeutics   (United States)

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

^d INSTITUTO NACIONAL DE CARDIOLOGÍA IGNACIO CHÁVEZ   (Mexico)

Author keywords

Channelopathies; Long QT syndrome; Sodium channel; Sudden death; Ventricular tachycardia

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; FATALITY; FEVER; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SUSCEPTIBILITY; HEART VENTRICLE ARRHYTHMIA; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; QT PROLONGATION; SCN5A GENE; SITE DIRECTED MUTAGENESIS; SODIUM CURRENT;

ANALYSIS OF VARIANCE; BRUGADA SYNDROME; FATAL OUTCOME; FEVER; HETEROZYGOTE; HUMANS; INFANT; LONG QT SYNDROME; MALE; MUSCLE PROTEINS; PEDIGREE; PHENOTYPE; RISK FACTORS; SODIUM CHANNELS; TACHYCARDIA, VENTRICULAR;

EID: 67650741355     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2009.04.034     Document Type: Article

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