OBO ID: DOID:0080421
Term Name: developmental and epileptic encephalopathy 11 Search Ontology:
Synonyms:
  • DEE11
  • early infantile epileptic encephalopathy 11
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/19786696
References:
Ontology: Human Disease   ( DOID:0080421 )
OTHER developmental and epileptic encephalopathy 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCN2A Developmental and epileptic encephalopathy 11
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None