OBO ID: DOID:0080438
Term Name: developmental and epileptic encephalopathy 5 Search Ontology:
Synonyms:
  • DEE5
  • early infantile epileptic encephalopathy 5
Definition: A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20493457
References:
Ontology: Human Disease   ( DOID:0080438 )
OTHER developmental and epileptic encephalopathy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPTAN1 Developmental and epileptic encephalopathy 5 613477
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None