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.
MONDO:0015650
epilepsy syndrome
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0016377
Pitt-Hopkins-like syndrome
is_a
CDFE syndrome
exact
CDFES
exact
PTHSL1
related
Pitt-Hopkins like syndrome 1
exact
cortical dysplasia-focal epilepsy syndrome
exact