Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias

Circulation: Cardiovascular Genetics

Volumn 7, Issue 6, 2014, Pages 771-781

  Swan, Heikki ^a   Amarouch, Mohamed Yassine ^b   Leinonen, Jaakko ^c   Marjamaa, Annukka ^a   Kucera, Jan P ^b   Laitinen Forsblom, Päivi J ^c   Lahtinen, Annukka M ^c   Palotie, Aarno ^c   Kontula, Kimmo ^c   Toivonen, Lauri ^a   Abriel, Hugues ^b   Widen, Elisabeth ^c  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Arrhythmia (heart rhythm disorders); Catecholaminergic polymorphic ventricular tachycardia; Exercise test; Genetic testing; Mutation; SCN5A

Indexed keywords

SODIUM CHANNEL NAV1.5; MICROSATELLITE DNA; SCN5A PROTEIN, HUMAN;

ACTION POTENTIAL; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; EXERCISE INDUCED POLYMORPHIC VENTRICULAR ARRHYTHMIA; EXERCISE TEST; EXOME; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE SEQUENCE; GENETIC CONSERVATION; HEART MUSCLE EXCITABILITY; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; HEK293 CELL LINE; HUMAN; HUMAN CELL; MALE; MIDDLE AGED; MISSENSE MUTATION; PATCH CLAMP TECHNIQUE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCN5A GENE; SIMULATION; SUDDEN CARDIAC DEATH; VERY ELDERLY; AMINO ACID SEQUENCE; ANIMAL; ECHOGRAPHY; FOLLOW UP; GENE LINKAGE DISEQUILIBRIUM; GENETICS; GENOTYPE; METABOLISM; MOLECULAR GENETICS; PEDIGREE; PHYSIOLOGY; PURKINJE CELL;

ACTION POTENTIALS; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ANIMALS; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; EXERCISE TEST; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HEK293 CELLS; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; PHENOTYPE; PURKINJE CELLS; TACHYCARDIA, VENTRICULAR;

EID: 84925862877     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.114.000703     Document Type: Article

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