OBO ID: DOID:0080417
Term Name: developmental and epileptic encephalopathy 38 Search Ontology:
Synonyms:
  • DEE38
  • early infantile epileptic encephalopathy 38
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. (3)
References:
Ontology: Human Disease   (DOID:0080417)
OTHER developmental and epileptic encephalopathy 38 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARV1 Developmental and epileptic encephalopathy 38 617020
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None