Last update 08 May 2025

Cortical Dysplasia-Focal Epilepsy Syndrome

Basic Info

Synonyms
CDFE (cortical dysplasia focal epilepsy) syndrome, CDFE SYNDROME, CDFE Syndrome
+ [11]
Introduction
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.

Analysis

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