OBO ID: DOID:0080440
Term Name: developmental and epileptic encephalopathy 3 Search Ontology:
Synonyms:
  • early infantile epileptic encephalopathy 3
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/15592994
References:
Ontology: Human Disease   (DOID:0080440)
OTHER developmental and epileptic encephalopathy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A22 Developmental and epileptic encephalopathy 3 609304
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None