developmental and epileptic encephalopathy 60

Term ID

DOID:0080432

Synonyms

• DEE60
• early infantile epileptic encephalopathy 60

Definition

A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. https://www.ncbi.nlm.nih.gov/pubmed/29394991

References

• OMIM:617929

Ontology

Human Disease   ( DOID:0080432 )