OBO ID: DOID:0080445
Term Name: developmental and epileptic encephalopathy 13 Search Ontology:
Synonyms:
  • DEE13
  • early infantile epileptic encephalopathy 13
Definition: A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (2)
References:
Ontology: Human Disease   ( DOID:0080445 )
OTHER developmental and epileptic encephalopathy 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCN8A Developmental and epileptic encephalopathy 13 614558
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None