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cortical dysplasia-focal epilepsy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cortical dysplasia-focal epilepsy syndrome

MONDO:0012400

Also known as:CDFE syndromeCDFESPitt-Hopkins like syndrome 1

Overview

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.

GeneticsAutosomal recessive · CNTNAP2 (chr 7)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Bilateral tonic-clonic seizure, Strabismus, Focal impaired awareness seizure, and Intellectual disability and others; and very common findings: Seizure, EEG abnormality, Global developmental delay, and Delayed gross motor development and others. 84 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	26	Bilateral tonic-clonic seizure, Poor speech, Dystonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CNTNAP2 encodes contactin associated protein 2 (1,331 aa). Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Highest expression in Brain Frontal Cortex BA9 (26.0 TPM) and Brain Spinal cord cervical c-1 (23.2 TPM).

Cortical dysplasia-focal epilepsy syndrome is associated with mutations in the CNTNAP2 gene on chromosome 7.

CNTNAP2 is classified as a druggable target (Cell Surface, Druggable Genome, Fibrinogen, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for CNTNAP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cortical dysplasia-focal epilepsy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 6 very common features, 14 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cortical dysplasia-focal epilepsy syndrome.

2 publications have been identified in PubMed for cortical dysplasia-focal epilepsy syndrome. Research spans Diagnostic / Biomarker (50%) and Basic Science / Preclinical (50%).

Recent Publications

Chalkiadaki K (2025). [PMID: 39758604](https://pubmed.ncbi.nlm.nih.gov/39758604/). *Biol Psychiatry Glob Open Sci*. [Basic Science / Preclinical]
Garcia-Uzquiano R (2024). [PMID: 38829689](https://pubmed.ncbi.nlm.nih.gov/38829689/). *Epilepsia Open*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610042

Orphanet

European rare disease database

Orphanet:163681

GARD

Genetic and Rare Diseases Info Center

GARD:16997

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cortical dysplasia-focal epilepsy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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