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Human Disease

developmental and epileptic encephalopathy 4

Term ID
DOID:0080436
Synonyms
  • DEE4
  • early infantile epileptic encephalopathy 4
Definition
A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. (2)
References
Ontology
Human Disease   ( DOID:0080436 )
Relationships
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Genes Involved
Zebrafish Models