Cortical dysplasia-focal epilepsy syndrome

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, Pitt-Hopkins like syndrome 1, cortical dysplasia-focal epilepsy syndrome, PTHSL1, Pitt-Hopkins-like syndrome 1

4 clinical trials for this condition and its sub-types.