OBO ID: DOID:0112211
Term Name: developmental and epileptic encephalopathy 75 Search Ontology:
Synonyms:
  • DEE75
  • early infantile epileptic encephalopathy 75
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in PARS2 on chromosome 1p32.3. https://pubmed.ncbi.nlm.nih.gov/29915213/
References:
Ontology: Human Disease   (DOID:0112211)
OTHER developmental and epileptic encephalopathy 75 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PARS2 Developmental and epileptic encephalopathy 75 618437
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None