Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel

Acta Physiologica

Volumn 194, Issue 4, 2008, Pages 311-323

  Zhang, Y ^b,c   Wang, T ^a   Ma, A ^b   Zhou, X ^b   Gui, J ^a   Wan, H ^b   Shi, R ^b   Huang, C ^b   Grace, A A ^c   Huang, C L H ^c   Trump, D ^a   Zhang, H ^a   Zimmer, T ^d   Lei, M ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MEDICAL SCHOOL OF XI AN JIAOTONG UNIVERSITY   (China)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

Cardiac Na+ channels; Novel mutation; Pore forming region; SCN5A; Sick sinus syndrome

Indexed keywords

GENOMIC DNA; LIDOCAINE; LYSINE; MEXILETINE; RNA; SODIUM CHANNEL;

ADULT; ARTICLE; ATRIOVENTRICULAR CONDUCTION; BRADYCARDIA; CELL STRAIN HEK293; CHINESE; CLINICAL ARTICLE; CLINICAL EVALUATION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEART ELECTROPHYSIOLOGY; HEART FUNCTION; HEART VENTRICLE CONDUCTION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OOCYTE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; R878C GENE; SCN5A GENE; SICK SINUS SYNDROME; SINOATRIAL CONDUCTION; ST SEGMENT ELEVATION; VOLTAGE CLAMP; XENOPUS;

ADULT; ANIMALS; ARRHYTHMIAS, CARDIAC; ELECTROCARDIOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, CONFOCAL; MUTATION; MYOCARDIUM; PEDIGREE; SICK SINUS SYNDROME; SODIUM CHANNELS; XENOPUS;

EID: 55949096477     PISSN: 17481708     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1748-1716.2008.01883.x     Document Type: Article

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