OBO ID: DOID:0080458
Term Name: developmental and epileptic encephalopathy 35 Search Ontology:
Synonyms:
  • DEE35
  • early infantile epileptic encephalopathy 35
  • ITPA-related encephalopathy
Definition: A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. https://www.ncbi.nlm.nih.gov/pubmed/26224535
References:
Ontology: Human Disease   (DOID:0080458)
OTHER developmental and epileptic encephalopathy 35 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITPA Developmental and epileptic encephalopathy 35 616647
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None