OBO ID: DOID:0112204
Term Name: developmental and epileptic encephalopathy 68 Search Ontology:
Synonyms:
  • DEE68
  • early infantile epileptic encephalopathy 68
Definition: A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in TRAK1 on chromosome 3p22.1. https://pubmed.ncbi.nlm.nih.gov/28364549/
References:
Ontology: Human Disease   (DOID:0112204)
OTHER developmental and epileptic encephalopathy 68 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRAK1 Developmental and epileptic encephalopathy 68 618201
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None