Gene variant effects across sodium channelopathies predict function and guide precision therapy.

ABSTRACT: Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral neuropathies and cardiac arrhythmias. Disease-associated variants have diverse functional effects ranging from complete loss-of-function to marked gain-of-function. Therapeutic strategy is likely to depend on functional effect. Experimental studies offer important insights into channel function but are resource intensive and only performed in a minority of cases. Given the evolutionarily conserved nature of the sodium channel genes, we investigated whether similarities in biophysical properties between different voltage-gated sodium channels can predict function and inform precision treatment across sodium channelopath

SUBMITTER: Brunklaus A 

PROVIDER: S-EPMC9897196 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature