OBO ID: DOID:0080715
Term Name: developmental and epileptic encephalopathy 82 Search Ontology:
Synonyms:
  • DEE82
  • early infantile epileptic encephalopathy 82
Definition: A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/31422819/
References:
Ontology: Human Disease   (DOID:0080715)
OTHER developmental and epileptic encephalopathy 82 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GOT2 Developmental and epileptic encephalopathy 82 618721
ZEBRAFISH MODELS
Fish Conditions Citations
WT + MO1-got2a standard conditions van Karnebeek et al., 2019
PHENOTYPE No data available

CITATIONS (1)