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Human Disease

developmental and epileptic encephalopathy 69

Term ID
DOID:0112205
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
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Genes Involved
Zebrafish Models