"Defining the cellular phenotype of ""ankyrin-B syndrome"" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes."
We systematically re-evaluated all SCN5A variants reported in BrS using the 2015 American college of medical genetics and genomics and the association for molecular pathology (ACMG-AMP) guidelines.
The recent HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited arrhythmia syndromes has updated the clinical diagnosis of congenital LQTS and BrS.
Human-induced pluripotent stem cells were differentiated into cardiomyocytes (hiPSC-CMs).The hiPSC-CMs from the BrS patient showed a significantly reduced peak sodium channel current (INa) and a significantly reduced ATX II (sea anemone toxin, an enhancer of late INa) sensitive as well as A-887826 (a blocker of SCN10A channel) sensitive late sodium channel current (INa) when compared with the healthy control hiPSC-CMs, indicating loss-of-function of sodium channels.
We report a rare CACNA1C mutation as causing BrS and/or shortened QT interval in a family also carrying a SCN5A stop mutation, but which does not segregate with BrS.
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart.
CACNA1C (NM_000719.6) encodes an L-type calcium voltage-gated calcium channel (Ca<sub>v</sub> 1.2), and pathogenic variants have been associated with two distinct clinical entities: Timothy syndrome and Brugada syndrome.
To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca<sup>+2</sup> channel [CACNA1C (Ca<sub>v</sub>1.2α1)] was identified.