Sheng Yi

NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features

The findings expand the genotypic and phenotypic spectrum of DEE96, demonstrating that DEE96 manifests as a multisystem disorder with prenatal onset, and supports considering NSF variants in the differential diagnosis of complex fetal syndromes with neurological and hematological abnormalities.