OBO ID: DOID:0090130
Term Name: cortical dysplasia-focal epilepsy syndrome Search Ontology:
Synonyms:
  • CDFE syndrome
  • CDFES
  • Pitt-Hopkins-like syndrome-1
  • PTHSL1
Definition: A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (2)
References:
Ontology: Human Disease   (DOID:0090130)
OTHER cortical dysplasia-focal epilepsy syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome 610042
Pitt-Hopkins like syndrome 1 610042
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None