… Our findings suggest that aberrant activation of Wnt/β-catenin signaling contributes to the
pathogenesis of SCN5A-related BrS and point to Wnt/β-catenin as a potential therapeutic target…

… its absence is known to result in aberrant cardiac infundibulum and neural crest formation. …
to cryptic splice site activation in SCN5A in a family with the Brugada syndrome. The deletion …

Background— The Brugada syndrome, an inherited syndrome associated with a high incidence
of sudden cardiac arrest, has been linked to mutations in 4 different genes, leading to a …

… A prevailing concept regarding the pathophysiology of Brugada syndrome is that … associated
with Brugada syndrome, especially mutations associated with aberrant exon splicing or a …

… influx into cardiomyocytes through aberrant channel gating and cause long QT syndrome, a
… defective Na v 1.5 proteins and cause Brugada syndrome, an electrical disease with minor …

… Brugada syndrome (BrS) was first described in 1992 as an aberrant pattern of ST segment
… or If channel (hyperpolarization-activated cyclic nucleotide-gated potassium channel 4). Its …

… aberrant association between α-/β 1 -subunits underlie the pathogenesis of the Brugada
syndrome… the clinical manifestations observed in the Brugada syndrome. The ECG pattern of the …

… of SCN5A in six patients identified four different aberrant conformers in patients 1–4. None
… Brugada syndrome related mutant sodium channels, reveal significant shifts of the activation …

… by direct DNA sequencing of aberrant conformers. The … for activation during the depolarizing
process. The rightward shift in activation kinetics causes the sodium channels to activate at …

Brugada syndrome is a heritable channelopathy characterized by a peculiar … Even if an
overt structural cardiomyopathy is not typical of Brugada syndrome, fibrosis and structural …