OBO ID: DOID:0080459
Term Name: developmental and epileptic encephalopathy 12 Search Ontology:
Synonyms:
  • DEE12
  • early infantile epileptic encephalopathy 12
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (2)
References:
Ontology: Human Disease   (DOID:0080459)
OTHER developmental and epileptic encephalopathy 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLCB1 Developmental and epileptic encephalopathy 12 613722
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None