Search Ontology:
Human Disease

developmental and epileptic encephalopathy 97

Term ID
DOID:0070383
Synonyms
  • DEE97
  • early infantile epileptic encephalopathy 97
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. https://pubmed.ncbi.nlm.nih.gov/33131106/
References
Ontology
Human Disease   ( DOID:0070383 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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