ORPHA:163681
CNTNAP2-related developmental and epileptic encephalopathy
Also known as: CDFE syndrome · CDFES · CNTNAP2-related DEE · Cortical dysplasia-focal epilepsy syndrome
Publications
303
78.8th percentile
Trials
1
Interventional, condition-specific
Researchers
1,458
Distinct authors in sample
Gene link
CNTNAP2
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012400
- MeSH:C567657
- OMIM:610042
- UMLS:C2750246
- NCIT:C133743
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — CNTNAP2
- LiteraturePresent
303 matched papers (202 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
303
303 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
303 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
202 in the last 10 years · high confidence · 78.8th percentile (publications denominator)
Phrase hits: 303 · MeSH hits: 0
Who's working on it?
1,458
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Liu Y5 papers · 2025
Suzhou Institute of Biomedical Engineering, Chinese Academy of Sciences, Suzhou, China.
Papers in Europe PMC - 02Wang 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 - 03Wang Y5 papers · 2025
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 04Geschwind 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 - 05Li 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 - 06Liu C4 papers · 2024
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 07Poot M4 papers · 2019
Department of Human Genetics, University of Würzburg, Würzburg, Germany.
Papers in Europe PMC - 08Striano P4 papers · 2023
IRCCS Istituto Giannina Gaslini, Member of ERN-Epicare, Genoa, Italy.
Papers in Europe PMC - 09Zweier C4 papers · 2024
Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Papers in Europe PMC - 10Englot 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "CNTNAP2"
Recall-expansion terms: CNTNAP2
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T08:10:32.507Z