Autor: Wen-Hui Liu
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Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy
BackgroundVariants 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…
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Precision diagnosis of GABRA1-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects
BackgroundGABRA1 variants are associated with a broad spectrum of epileptic phenotypes ranging from mild idiopathic generalized epilepsy to severe developmental and epileptic encephalopathy (DEE). To date, the majority of the identified GABRA1 variants…