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ORPHA:163681

CNTNAP2-related developmental and epileptic encephalopathy

low confidenceDisorder

Also known as: CDFE syndrome · CDFES · CNTNAP2-related DEE · Cortical dysplasia-focal epilepsy syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

4,213

Trials

0

Interventional, condition-specific

Researchers

1,458

Distinct authors in sample

Gene link

CNTNAP2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe , speech impairment with normal or mildly delayed motor development and early-onset often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

Pitt-Hopkins like syndrome 1 · cortical dysplasia-focal epilepsy syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — CNTNAP2

  2. LiteraturePresent

    4,213 matched papers (2,907 in last 10 years) Source

  3. Phenotype characterisedPresent

    148 HPO annotations (e.g. Delayed speech and language development; Autism; Aggressive behavior) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (CNTNAP2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

148

Associated phenotypes · MONDO:0012400

  • Delayed speech and language development
  • Autism
  • Aggressive behavior
  • Self-mutilation
  • Low frustration tolerance

Showing 5 of 148 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,213

4,213 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,213 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,907 in the last 10 years · low confidence

Phrase hits: 303 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,458

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Liu Y5 papers · 2025

    Suzhou Institute of Biomedical Engineering, Chinese Academy of Sciences, Suzhou, China.

    Papers in Europe PMC
  2. 02
    Wang X5 papers · 2026

    Department of Nuclear Medicine and Medical PET Center, The Second Hospital of Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Wang Y5 papers · 2025

    Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  4. 04
    Geschwind DH4 papers · 2015

    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Center for Autism Research and Treatment and Center for Neurobehavioral Genetics, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90095, USA. Center for Neurobehavioral Genetics, Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA 90095, USA. dhg@ucla.edu.

    Papers in Europe PMC
  5. 05
    Li Y4 papers · 2025

    Department of Nuclear Medicine and Medical PET Center, The Second Hospital of Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, Zhejiang, China.

    Papers in Europe PMC
  6. 06
    Liu C4 papers · 2024

    Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  7. 07
    Poot M4 papers · 2019

    Department of Human Genetics, University of Würzburg, Würzburg, Germany.

    Papers in Europe PMC
  8. 08
    Striano P4 papers · 2023

    IRCCS Istituto Giannina Gaslini, Member of ERN-Epicare, Genoa, Italy.

    Papers in Europe PMC
  9. 09
    Zweier C4 papers · 2024

    Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

    Papers in Europe PMC
  10. 10
    Englot DJ3 papers · 2023

    Department of Neurological Surgery, University of California, San Francisco, California 94143-0112, USA. englotdj@neurosurg.ucsf.edu

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for CNTNAP2-related developmental and epileptic encephalopathy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("CNTNAP2-related developmental and epileptic encephalopathy" OR "CDFE syndrome" OR "CDFES" OR "CNTNAP2-related DEE" OR "Cortical dysplasia-focal epilepsy syndrome" OR "Pitt-Hopkins like syndrome 1") OR (MESH:"Cortical Dysplasia-Focal Epilepsy Syndrome") OR ("CNTNAP2" OR "CNTNAP2 syndrome" OR "CNTNAP2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cortical Dysplasia-Focal Epilepsy Syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"CNTNAP2-related developmental and epileptic encephalopathy" OR "CDFE syndrome" OR "CDFES" OR "CNTNAP2-related DEE" OR "Cortical dysplasia-focal epilepsy syndrome" OR "Pitt-Hopkins like syndrome 1"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4213) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:10:32.507Z