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ORPHA:166409

Photosensitive occipital lobe epilepsy

medium confidenceDisorder

Also known as: POLE

Publications

613

86.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,214

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome with onset in childhood and adolescence characterized by focal involving the occipital lobe triggered by visual stimuli.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

photoparoxysmal response

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    613 matched papers (342 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

613

613 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=5449) is 41.

613 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).

342 in the last 10 years · medium confidence · 86.4th percentile (publications denominator)

Phrase hits: 613 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,214

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.

  1. 01
    Kasteleijn-Nolst Trenité D6 papers · 2025

    Department of Neurosurgery and Epilepsy, University Medical Center Utrecht, Utrecht, the Netherlands; Nesmos Department, Faculty of Medicine and Psychology, Sapienza University, Roma, Italy.

    Papers in Europe PMC
  2. 02
    Wang S6 papers · 2025

    The First Affiliated Hospital of Hainan Medical University Department of Neurology

    Papers in Europe PMC
  3. 03
    Baumer FM5 papers · 2026

    Stanford University School of Medicine, Department of Neurology, Division of Child Neurology, United States. Electronic address: fbaumer@stanford.edu.

    Papers in Europe PMC
  4. 04
    Baykan B5 papers · 2025

    Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; Department of Neurology, EMAR Medical Center, Istanbul, Turkey. Electronic address: betul.baykan.baykal@gmail.com.

    Papers in Europe PMC
  5. 05
    Beniczky S5 papers · 2025

    Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund and Aarhus University Hospital, Aarhus, Denmark.

    Papers in Europe PMC
  6. 06
    Beydoun A5 papers · 2025

    Department of Neurology, American University of Beirut Medical Center, Beirut, Lebanon.

    Papers in Europe PMC
  7. 07
    Canafoglia L5 papers · 2025

    Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Di Bonaventura C5 papers · 2024

    Epilepsy Unit, Department of Human Neurosciences, Policlinico "Umberto I", Sapienza University, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Guerrini R5 papers · 2026

    Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy. r.guerrini@meyer.it

    Papers in Europe PMC
  10. 10
    Morano A5 papers · 2024

    Epilepsy Unit, Department of Human Neurosciences, Policlinico "Umberto I", Sapienza University, Rome, Italy.

    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).

medium 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 2026-07-26

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.

"Photosensitive occipital lobe epilepsy" OR "photoparoxysmal response"

Run this search on Europe PMC

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

"Photosensitive occipital lobe epilepsy" OR "photoparoxysmal response"

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.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: POLE

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

Ingested 2026-07-27T08:23:40.117Z