Gene variant effects across sodium channelopathies predict function and guide precision therapy
A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
Loss of sodium current caused by a Brugada syndrome–associated variant is determined by patient-specific genetic background
R Martínez-Moreno, D Carreras, G Sarquella-Brugada… - Heart Rhythm, 2024 - Elsevier
Abstract Background Brugada syndrome (BrS) is an inherited cardiac arrhythmogenic
disease that predisposes patients to sudden cardiac death. It is associated with mutations in …
disease that predisposes patients to sudden cardiac death. It is associated with mutations in …
Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes
T Nakajima, S Tamura, M Kurabayashi… - International Journal of …, 2021 - mdpi.com
Most causal genes for inherited arrhythmia syndromes (IASs) encode cardiac ion channel-
related proteins. Genotype-phenotype studies and functional analyses of mutant genes …
related proteins. Genotype-phenotype studies and functional analyses of mutant genes …
Inherited channelopathies and acquired phenocopies
SG Priori, D Kukavica - Genomic and Molecular Cardiovascular Medicine, 2024 - Elsevier
Channelopathies are cardiac electrical disorders characterized by the predisposition to
develop life-threatening ventricular arrhythmias in the context of a structurally normal heart …
develop life-threatening ventricular arrhythmias in the context of a structurally normal heart …