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Human Disease

developmental and epileptic encephalopathy 101

Term ID
DOID:0070387
Synonyms
  • DEE101
  • early infantile epileptic encephalopathy 101
Definition
A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/34611970/
References
Ontology
Human Disease   ( DOID:0070387 )
Relationships
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Genes Involved
Zebrafish Models