Search Ontology:
Human Disease

developmental and epileptic encephalopathy 99

Term ID
DOID:0070385
Synonyms
  • DEE99
  • early infantile epileptic encephalopathy 99
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/33880529/
References
Ontology
Human Disease   ( DOID:0070385 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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