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Human Disease

developmental and epileptic encephalopathy 59

Term ID
DOID:0080291
Synonyms
  • DEE59
  • early infantile epileptic encephalopathy 59
Definition
A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/25262651
References
Ontology
Human Disease   ( DOID:0080291 )
Relationships
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Genes Involved
Zebrafish Models
Citations