OBO ID: DOID:0080450
Term Name: developmental and epileptic encephalopathy 17 Search Ontology:
Synonyms:
  • DEE17
  • early infantile epileptic encephalopathy 17
Definition: A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/23993195
References:
Ontology: Human Disease   (DOID:0080450)
OTHER developmental and epileptic encephalopathy 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNAO1 Developmental and epileptic encephalopathy 17 615473
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None