Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation

Heart Rhythm

Volumn 11, Issue 8, 2014, Pages 1393-1400

  Pambrun, Thomas ^a   Mercier, Aurélie ^b   Chatelier, Aurélien ^b   Patri, Sylvie ^b   Schott, Jean Jacques ^c,d   Le Scouarnec, Solena ^c,d   Chahine, Mohamed ^e   Degand, Bruno ^a   Bois, Patrick ^b  

^a POITIERS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE POITIERS   (France)

^c CNRS   (France)

^d L INSTITUT DU THORAX   (France)

^e Centre de Recherche de l'Iusmq   (Canada)

Author keywords

Ajmaline challenge; Brugada syndrome; Cardiac arrhythmia; Myotonic dystrophy cardiomyopathy; Sodium channels

Indexed keywords

AJMALINE; ISOPRENALINE; SODIUM CHANNEL NAV1.5;

ADOLESCENT; ARTICLE; BIOTINYLATION; BRUGADA SYNDROME; CASE REPORT; CELL SURFACE; CLINICAL EVALUATION; FEMALE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HEART ARREST; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE FIBRILLATION; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; LOSS OF FUNCTION MUTATION; MUTATIONAL ANALYSIS; MYOTONIC DYSTROPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WHOLE CELL PATCH CLAMP; CELL CULTURE; ELECTROCARDIOGRAPHY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP TECHNIQUE; PATHOLOGY; PEDIGREE;

ADOLESCENT; BRUGADA SYNDROME; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MUTATION, MISSENSE; MYOTONIC DYSTROPHY; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PEDIGREE; PHENOTYPE;

EID: 84904973170     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2014.04.026     Document Type: Article

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