developmental and epileptic encephalopathy 96

Term ID

DOID:0070377

Synonyms

• DEE96

Definition

A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/31675180/

References

• OMIM:619340

Ontology

Human Disease   ( DOID:0070377 )