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Human Disease

developmental and epileptic encephalopathy 98

Term ID
DOID:0070384
Synonyms
  • DEE98
  • early infantile epileptic encephalopathy 98
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/33880529/
References
Ontology
Human Disease   ( DOID:0070384 )
Relationships
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Genes Involved
Zebrafish Models