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Human Disease

developmental and epileptic encephalopathy 24

Term ID
DOID:0080429
Synonyms
  • DEE24
  • early infantile epileptic encephalopathy 24
Definition
A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (2)
References
Ontology
Human Disease   ( DOID:0080429 )
Relationships
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Genes Involved
Zebrafish Models