OBO ID: DOID:0112205
Term Name: developmental and epileptic encephalopathy 69 Search Ontology:
Synonyms:
  • DEE69
  • early infantile epileptic encephalopathy 69
Definition: A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/30343943/
References:
Ontology: Human Disease   ( DOID:0112205 )
Relationships
is a type of:
OTHER developmental and epileptic encephalopathy 69 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CACNA1E Developmental and epileptic encephalopathy 69 618285
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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