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Human Disease

developmental and epileptic encephalopathy 83

Term ID
DOID:0112218
Synonyms
  • DEE83
  • early infantile epileptic encephalopathy 83
Definition
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31820119/
References
Ontology
Human Disease   ( DOID:0112218 )
Relationships
is a type of
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Genes Involved
Zebrafish Models