Living with Cortical dysplasia-focal epilepsy syndrome
A rare genetic brain development condition with early seizures, speech trouble, and intellectual disability.
Understanding Cortical dysplasia-focal epilepsy syndrome
It causes moderate to severe intellectual disability and speech problems, with normal or mildly delayed movement skills. Seizures start early and are often joined by a loss of skills. Autistic behavior and repeated movements are common. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures that start early
- Severe intellectual disability
- Delayed speech and language
- Global developmental delay
- Loss of skills (developmental regression)
- Delayed walking
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in CNTNAP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pitt Hopkins Research Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Pitt Hopkins Research Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pitt Hopkins Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the CNTNAP2 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cdfe syndrome; cdfes; cntnap2-related dee; cntnap2-related developmental and epileptic encephalopathy; pitt-hopkins like syndrome 1; pitt-hopkins-like syndrome 1
Patient organizations
- Pitt Hopkins Research FoundationCortical dysplasia-focal epilepsy syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Cortical dysplasia-focal epilepsy syndrome.
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