OBO ID: DOID:0080428
Term Name: developmental and epileptic encephalopathy 45 Search Ontology:
Synonyms:
  • DEE45
  • early infantile epileptic encephalopathy 45
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (2)
References:
Ontology: Human Disease   ( DOID:0080428 )
OTHER developmental and epileptic encephalopathy 45 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GABRB1 Developmental and epileptic encephalopathy 45 617153
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None