Wen-Hui Liu

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

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 path...