cortical dysplasia-focal epilepsy syndrome (CDFE syndrome)
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Genetics
- associated with defects in CNTNAP2 gene
Clinical manifestations
- cortical dysplasia
- focal epilepsy
- intractable focal seizures begin in early childhood
- relative macrocephaly
- diminished deep-tendon reflexes
- language regression, hyperactivity, impulsive & aggressive behavior, mental retardation develop after onset of seizures
More general terms
- congenital anomaly (birth defect)
- genetic syndrome (multisystem disorder)
- genetic disease of the central nervous system