cortical dysplasia-focal epilepsy syndrome
Findings
No curated finding names cortical dysplasia-focal epilepsy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012400), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
109 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 12 of 12 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 18 of 18 reported patients
- Focal-onset seizureHPOHP:0007359
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient · Childhood onset
- 7 of 7 reported patients
- 1 of 1 reported patient
- 0 of 2 reported patients
- 0 of 1 reported patient
- 2 of 2 reported patients
- 4 of 4 reported patients
- 3 of 3 reported patients
- 18 of 18 reported patients
- 8 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CNTNAP2HGNC:13830
- Definitive · Illumina · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: cortical dysplasia-focal epilepsy syndrome
- Also called
- CDFE syndromeCDFESPitt-Hopkins like syndrome 1