Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects
Hong-Wei Wang
BackgroundVariants in SCN3A gene encoding the voltage-gated sodium channel Nav1. 3 have been associated with severe developmental and/or epileptic encephalopathies, characterized by early-onset, drug-resistant seizures, malformations of cortical development, and profound neurodevelopmental impairment. Rapid clinical interpretation of SCN3A missense variants remains challenging. This study aimed to explore potentially reliable indicators in reflecting the pathogenicity of SCN3A variants, thereby