OBO ID: DOID:0080429
Term Name: developmental and epileptic encephalopathy 24 Search Ontology:
Synonyms:
  • DEE24
  • early infantile epileptic encephalopathy 24
Definition: A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (2)
References:
Ontology: Human Disease   ( DOID:0080429 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 24 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HCN1 Developmental and epileptic encephalopathy 24 615871
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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