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ORPHA:98820

Familial focal epilepsy with variable foci

low confidenceDisorder

Also known as: FFEVF · Familial partial epilepsy with variable foci

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

Publications

940

Trials

0

Interventional, condition-specific

Researchers

1,327

Distinct authors in sample

Gene link

NPRL2

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Familial focal with variable foci is a rare genetic disorder characterized by lesional and nonlesional focal with variable penetrance. Focal emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal whereas others have nocturnal . Most individuals are of normal intelligence but patients with , autistic spectrum disorder and obsessive-compulsive disorder have been described.

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 (3)

epilepsy, familial focal, with variable foci · familial focal epilepsy with variable foci · familial partial epilepsy with variable foci

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Moderate — NPRL2

  2. LiteraturePresent

    940 matched papers (743 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Atypical behavior; Autistic behavior; Pallor) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 78 for broader category focal epilepsy

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?

Probably — there is moderate evidence for NPRL2.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

53

Associated phenotypes · MONDO:0020310

  • Atypical behavior
  • Autistic behavior
  • Pallor
  • Intellectual disability
  • Focal aware seizure

Showing 5 of 53 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

940

940 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.

940 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).

743 in the last 10 years · low confidence

Phrase hits: 181 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,327

Distinct author names in 181 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
    Berkovic SF12 papers · 2022

    Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia

    Papers in Europe PMC
  2. 02
    Wang Y10 papers · 2025

    Department of Neurology, University of Michigan, Ann Arbor, MI.

    Papers in Europe PMC
  3. 03
    Scheffer IE9 papers · 2016

    Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg (Melbourne), University of Melbourne, Victoria, Australia.

    Papers in Europe PMC
  4. 04
    Baulac S7 papers · 2022

    Sorbonne Universités Paris VI UMR CNRS 1127 UPMC INSERM U 1127 CNRS UMR 7225 Institut du Cerveau et de la Moelle épinière - ICM Paris France.

    Papers in Europe PMC
  5. 05
    Bisulli F7 papers · 2021

    IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Klein KM6 papers · 2025

    Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt am Main, Germany.

    Papers in Europe PMC
  7. 07
    Licchetta L6 papers · 2021

    IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  8. 08
    Tinuper P6 papers · 2021

    IRCCS, Istituto delle Scienze Neurologiche of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  9. 09
    Andermann E5 papers · 2014
    Papers in Europe PMC
  10. 10
    Baldassari S5 papers · 2022

    Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, F-75013 Paris, France.

    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). 78 trials are registered for focal epilepsy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

78 interventional trials matched focal epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: focal epilepsy

78

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 Familial focal epilepsy with variable foci — 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.

("Familial focal epilepsy with variable foci" OR "FFEVF" OR "Familial partial epilepsy with variable foci" OR "epilepsy, familial focal, with variable foci") OR (MESH:"Epilepsy, Partial, with Variable Foci") OR ("NPRL2" OR "NPRL2 syndrome" OR "NPRL2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epilepsy, Partial, with Variable Foci

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

"Familial focal epilepsy with variable foci" OR "FFEVF" OR "Familial partial epilepsy with variable foci" OR "epilepsy, familial focal, with variable foci" OR "Epilepsy, Partial, with Variable Foci"

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

Parent-category trials query:

"focal epilepsy"

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 (940) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:26:47.754Z