OBO ID: DOID:0080436
Term Name: developmental and epileptic encephalopathy 4 Search Ontology:
Synonyms:
  • DEE4
  • early infantile epileptic encephalopathy 4
Definition: A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. (2)
References:
Ontology: Human Disease   ( DOID:0080436 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STXBP1 Developmental and epileptic encephalopathy 4 612164
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.