Review
Open access
Aug 2026
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.
Qi Yang, Zai-Long Qin, Jiao Li et al.
· Frontiers in Genetics · 0 citations