Variants in FGF13, associated with developmental and epileptic encephalopathies, alter neuronal excitability by affecting inhibitory neurons and by a sodium channel-independent mechanism.
Human-based electromechanical simulations reveal electrocardiogram biomarkers are better indicators of pro-arrhythmic substrate after myocardial infarction than ejection fraction.
The UPOAO model effectively replicates retinal ischemia in retinal artery occlusion, providing a novel platform for identifying pathogenic genes and advancing therapeutic research.
ROH-DICE is an efficient method for detecting ROH clusters in biobank data, enabling the study of population history of large cohorts, and providing a new genome-wide association analysis approach for finding disease-causing loci with multi-marker recessive effects.
Inhibition of RyR2 hyperactivity with dantrolene not only prevents VT/VF and SCD but also heart failure by mitigating calcium dysfunction in pressure-overloaded hearts.