OBO ID: DOID:0112215
Term Name: developmental and epileptic encephalopathy 79 Search Ontology:
Synonyms:
  • DEE79
  • early infantile epileptic encephalopathy 79
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (2)
References:
Ontology: Human Disease   ( DOID:0112215 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 79 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GABRA5 Developmental and epileptic encephalopathy 79 618559
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.