A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia

European Heart Journal

Volumn 38, Issue 4, 2017, Pages 280-288

  Baruscotti, Mirko ^a   Bucchi, Annalisa ^a   Milanesi, Raffaella ^a   Paina, Manuel ^a   Barbuti, Andrea ^a   Gnecchi Ruscone, Tomaso ^b   Bianco, Elisabetta ^c   Vitali Serdoz, Laura ^d   Cappato, Riccardo ^e,f   DiFrancesco, Dario ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b A MANZONI HOSPITAL   (Italy)

^c UNIVERSITY HOSPITAL OF TRIESTE   (Italy)

^d KLINIKUM COBURG   (Germany)

^e HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^f Humanitas Gavazzeni Hospital   (Italy)

Author keywords

Channelopathies; Funny current; HCN4 pacemaker channel; Inappropriate Sinus Tachycardia; Sinus node dysfunction

Indexed keywords

CYCLIC AMP; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL 4; UNCLASSIFIED DRUG; HCN4 PROTEIN, HUMAN; MUSCLE PROTEIN; MUTANT PROTEIN; POTASSIUM CHANNEL;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CARDIAC MUSCLE CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DIZZINESS; DYSPNEA; ELECTROCARDIOGRAM; FAINTNESS; FAMILIAL DISEASE; GAIN OF FUNCTION MUTATION; HEART DEPOLARIZATION; HEART PALPITATION; HETEROLOGOUS EXPRESSION; HOLTER MONITORING; HUMAN; NEWBORN; NONHUMAN; ORTHOSTATIC INTOLERANCE; PACEMAKER; PATCH CLAMP TECHNIQUE; PHYSICAL ACTIVITY; PRIORITY JOURNAL; PROTEIN BINDING; RAT; SINUS TACHYCARDIA; WILD TYPE; CHEMISTRY; FEMALE; GENETICS; HEK293 CELL LINE; MALE; METABOLISM; PEDIGREE; PHYSIOLOGY; RECURRENT DISEASE;

CYCLIC AMP; FEMALE; GAIN OF FUNCTION MUTATION; HEK293 CELLS; HUMANS; HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED CHANNELS; MALE; MUSCLE PROTEINS; MUTANT PROTEINS; MYOCYTES, CARDIAC; PEDIGREE; POTASSIUM CHANNELS; RECURRENCE; SYNCOPE; TACHYCARDIA, SINUS;

EID: 85015700420     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehv582     Document Type: Article

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