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cortical dysplasia-focal epilepsy syndrome (CDFE syndrome)

Genetics: - associated with defects in CNTNAP2 gene Clinical manifestations: 1) cortical dysplasia 2) focal epilepsy - intractable focal seizures begin in early childhood 3) relative macrocephaly 4) diminished deep-tendon reflexes 5) language regression, hyperactivity, impulsive & aggressive behavior, mental retardation develop after onset of seizures

Related

contactin-associated protein-like 2; cell recognition molecule Caspr2 (CNTNAP2, CASPR2, LG1, KIAA0868)

General

congenital anomaly (birth defect) genetic syndrome (multisystem disorder) genetic disease of the central nervous system

References

  1. OMIM :accession 610042
  2. UniProt :accession Q9UHC6