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Human Disease

developmental and epileptic encephalopathy 32

Term ID
DOID:0080416
Synonyms
  • DEE32
  • early infantile epileptic encephalopathy 32
Definition
A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. https://www.ncbi.nlm.nih.gov/pubmed/25751627
References
Ontology
Human Disease   ( DOID:0080416 )
Relationships
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Genes Involved
Zebrafish Models