OBO ID: DOID:0112214
Term Name: developmental and epileptic encephalopathy 78 Search Ontology:
Synonyms:
  • DEE78
  • early infantile epileptic encephalopathy 78
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in GABRA2 on chromosome 4p12. (2)
References:
Ontology: Human Disease   (DOID:0112214)
OTHER developmental and epileptic encephalopathy 78 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GABRA2 Developmental and epileptic encephalopathy 78 618557
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None