OBO ID: DOID:0080426
Term Name: developmental and epileptic encephalopathy 63 Search Ontology:
Synonyms:
  • DEE63
  • early infantile epileptic encephalopathy 63
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. (2)
References:
Ontology: Human Disease   (DOID:0080426)
OTHER developmental and epileptic encephalopathy 63 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CPLX1 Developmental and epileptic encephalopathy 63 617976
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None