Cortical dysplasia-focal epilepsy syndrome
Cortical dysplasia-focal epilepsy syndrome
Definition
An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.
Also known as CDFE syndrome, CDFES, cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome 1 — per MONDO