Article
Familial atrial fibrillation mutation M1875T-SCN5A increases early sodium current and dampens the effect of flecainide.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 30 Mar 2023
O'Reilly Molly, Sommerfeld Laura C, O'Shea C, Broadway-Stringer S, Andaleeb S, Reyat J S, Kabir S N, Stastny D, Malinova A, Delbue D, Fortmueller L, Gehmlich K, Pavlovic D, Skryabin B V, Holmes A P, Kirchhof P, Fabritz L
Abstract excerpt
AIMS: Atrial fibrillation (AF) is the most common cardiac arrhythmia. Pathogenic variants in genes encoding ion channels are associated with familial AF. The point mutation M1875T in the SCN5A gene, which encodes the α-subunit of the cardiac sodium channel Nav1.5, has been associated with increased atrial excitability and familial AF in patients. METHODS AND RESULTS: We designed a new murine model carrying the...
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