Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070377 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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