Conditions / Nervous system
cortical dysplasia-focal epilepsy syndrome
info · Nervous system · ICD-10: Q04.8
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 associate
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.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Strabismus
- Focal impaired awareness seizure
- Intellectual disability
- Focal-onset seizure
- Receptive language delay
- Macrocephaly
- Schizophrenia
- Obesity
- Delayed speech and language development
Also known as: CDFE syndrome; CDFES; PTHSL1; Pitt-Hopkins-like syndrome-1