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Start free with EleplanCNTNAP2-related developmental and epileptic encephalopathy
ORPHA:163681Disease
Also called CDFE syndrome · CDFES · CNTNAP2-related DEE · Cortical dysplasia-focal epilepsy syndrome
What it is
A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.
Key facts
- Age of onset
- Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
6Common30–79%
11- Bilateral tonic-clonic seizure with focal onset
- EEG with generalized epileptiform discharges
- EEG with generalized polyspikes
- EEG with generalized slow activity
- Global developmental delay
- Intellectual disability, severe
- Interictal epileptiform activity
- Mental deterioration
- Motor delay
- Poor speech
- Progressive language deterioration
Sometimes5–29%
32- Abnormal temper tantrums
- Absent speech
- Aggressive behavior
- Areflexia
- Ataxia
- Atypical behavior
- Autism
- Cerebellar vermis atrophy
and 24 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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