OBO ID: DOID:0080431
Term Name: developmental and epileptic encephalopathy 19 Search Ontology:
Synonyms:
  • DEE19
  • early infantile epileptic encephalopathy 19
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/24623842
References:
Ontology: Human Disease   ( DOID:0080431 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GABRA1 Developmental and epileptic encephalopathy 19 615744
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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