OBO ID: DOID:0080455
Term Name: developmental and epileptic encephalopathy 52 Search Ontology:
Synonyms:
  • DEE52
  • early infantile epileptic encephalopathy 52
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19710327
References:
Ontology: Human Disease   (DOID:0080455)
OTHER developmental and epileptic encephalopathy 52 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCN1B Developmental and epileptic encephalopathy 52 617350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None