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Human Disease

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
Ontology
Human Disease   ( DOID:0080432 )
Relationships
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Genes Involved
Zebrafish Models