Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy

Background

Variants in YWHAG cause severe developmental and epileptic encephalopathy (DEE) with early-onset seizures. Rapid and precise clinical classification of its missense variants presents a substantial challenge. This study sought to explore YWHAG spatiotemporal expression-pathogenicity correlation and reliable pathogenicity indicators for its variants to promote clinical genetic diagnosis.