OBO ID: DOID:0080435
Term Name: developmental and epileptic encephalopathy 37 Search Ontology:
Synonyms:
  • DEE37
  • early infantile epileptic encephalopathy 37
Definition: A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/27236917
References:
Ontology: Human Disease   (DOID:0080435)
OTHER developmental and epileptic encephalopathy 37 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FRRS1L Developmental and epileptic encephalopathy 37 616981
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None