OBO ID: DOID:0080416
Term Name: developmental and epileptic encephalopathy 32 Search Ontology:
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)
OTHER developmental and epileptic encephalopathy 32 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNA2 Developmental and epileptic encephalopathy 32 616366
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None