Features include always present findings: Profound intellectual disability, EEG with burst suppression, Epileptic encephalopathy, and Neonatal respiratory distress; and common findings: Epileptic spasm, Small for gestational age, Tonic seizure, and Primary microcephaly and others.

NSF encodes N-ethylmaleimide sensitive factor, vesicle fusing ATPase (744 aa). Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack.

Developmental and epileptic encephalopathy 96 is associated with mutations in the NSF gene on chromosome 17.

The NSF protein participates in STX10:STX16:VTI1A:VAMP3:NSF hexamer:SNAPs, STX6:STX16:VTI1A:VAMP4:NSF hexamer:3xSNAPs, and STX5:PalmC-YKT6:BET1L:GOSR1:NSF hexamer:3xSNAPs pathways.

NSF is classified as a druggable target with score 0.0.

Genetic testing for NSF is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 96 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 5 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 96.

39 publications have been identified in PubMed for developmental and epileptic encephalopathy 96. Research spans Epidemiology / Natural History (36%), Diagnostic / Biomarker (18%), and Basic Science / Preclinical (18%).