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ORPHA:439218

KCNQ2-related developmental and epileptic encephalopathy

low confidenceDisorder

Also known as: KCNQ2-DEE

Publications

4,487

Trials

1

Interventional, condition-specific

Researchers

1,371

Distinct authors in sample

Gene link

KCNQ2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

KCNQ2-related epileptic is a severe form of that usually manifests in newborns during the first week of life with (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of such as diffuse , limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable and mild/moderate to severe .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

DEE7 · EIEE7 · KCNQ2-NEE · developmental and epileptic encephalopathy 7 · epileptic encephalopathy, early infantile, 7 · epileptic encephalopathy, early infantile, type 7

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — KCNQ2

  2. LiteraturePresent

    4,487 matched papers (2,794 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Intellectual disability; Global developmental delay; Abnormal cerebral white matter morphology) 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 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 (KCNQ2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

31

Associated phenotypes · MONDO:0013387

  • Intellectual disability
  • Global developmental delay
  • Abnormal cerebral white matter morphology
  • Generalized tonic seizure
  • Pallor

Showing 5 of 31 — 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?

4,487

4,487 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.

4,487 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).

2,794 in the last 10 years · low confidence

Phrase hits: 164 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,371

Distinct author names in 164 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.

  1. 01
    Taglialatela M13 papers · 2026

    Department of Neuroscience, University of Naples Federico II Naples, Italy ; Department of Medicine and Health Sciences, University of Molise Campobasso, Italy.

    Papers in Europe PMC
  2. 02
    Weckhuysen S11 papers · 2026

    Neurogenetics GroupDepartment of Molecular GeneticsVIBAntwerpBelgium; Laboratory of NeurogeneticsInstitute Born-BungeUniversity of AntwerpAntwerpBelgium.

    Papers in Europe PMC
  3. 03
    Miceli F10 papers · 2026

    Department of Neuroscience, University of Naples Federico II Naples, Italy.

    Papers in Europe PMC
  4. 04
    Cooper EC9 papers · 2026

    Department of Neurology, Neuroscience and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  5. 05
    George AL Jr8 papers · 2026

    Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

    Papers in Europe PMC
  6. 06
    Soldovieri MV8 papers · 2024

    Department of Medicine and Health Sciences, University of Molise Campobasso, Italy.

    Papers in Europe PMC
  7. 07
    Berg AT7 papers · 2026

    Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, United States. Electronic address: a-berg@norwestern.edu.

    Papers in Europe PMC
  8. 08
    Lesca G7 papers · 2026

    Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France.

    Papers in Europe PMC
  9. 09
    Milh M7 papers · 2026

    INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, 13385 Marseille, France.

    Papers in Europe PMC
  10. 10
    Villard L7 papers · 2026

    Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France.

    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. 14 trials are registered for developmental and epileptic encephalopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

Broader category: developmental and epileptic encephalopathy

14

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 KCNQ2-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.

("KCNQ2-related developmental and epileptic encephalopathy" OR "KCNQ2-DEE" OR "EIEE7" OR "KCNQ2-NEE" OR "developmental and epileptic encephalopathy 7" OR "epileptic encephalopathy, early infantile, 7" OR "epileptic encephalopathy, early infantile, type 7") OR ("KCNQ2" OR "KCNQ2 syndrome" OR "KCNQ2-related")

Run this search on Europe PMC

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

"KCNQ2-related developmental and epileptic encephalopathy" OR "KCNQ2-DEE" OR "EIEE7" OR "KCNQ2-NEE" OR "developmental and epileptic encephalopathy 7" OR "epileptic encephalopathy, early infantile, 7" OR "epileptic encephalopathy, early infantile, type 7"

Interventional trials matched via: phrase (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.

Parent-category trials query:

"developmental and epileptic encephalopathy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DEE7

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4487) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:17:43.387Z