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

• OMIM:618744

Ontology

Human Disease   ( DOID:0112218 )