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ORPHA:435438

Progressive myoclonic epilepsy type 7

medium confidenceDisorder

Also known as: EPM7 · MEAK · Myoclonus epilepsy and ataxia due to potassium channel mutation · PME type 7 · Progressive myoclonic epilepsy due to KV3.1 deficiency · Progressive myoclonus epilepsy type 7

Publications

26

38.6th percentile

Trials

1

Interventional, condition-specific

Researchers

181

Distinct authors in sample

Gene link

KCNC1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, neurological disorder characterized by childhood to adolescent onset of myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic , and, occasionally, . Learning disability prior to seizure onset and mild cognitive decline may be associated.

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 (7)

KCNC1 progressive myoclonic epilepsy · epilepsy, progressive myoclonic type 7 · meak · myoclonus epilepsy and ataxia due to potassium channel mutation · progressive myoclonic epilepsy caused by mutation in KCNC1 · progressive myoclonic epilepsy due to KV3.1 deficiency · progressive myoclonus epilepsy 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — KCNC1

  2. LiteraturePresent

    26 matched papers (22 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?

Yes — we know a specific gene responsible (KCNC1).

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?

26

26 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.

26 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).

22 in the last 10 years · medium confidence · 38.6th percentile (publications denominator)

Phrase hits: 26 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

181

Distinct author names in 26 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
    Goldberg EM5 papers · 2026

    Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, United States.

    Papers in Europe PMC
  2. 02
    Clatot J4 papers · 2026

    Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, United States.

    Papers in Europe PMC
  3. 03
    Berkovic SF3 papers · 2025

    Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

    Papers in Europe PMC
  4. 04
    Afawi Z2 papers · 2017

    1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Zlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel.

    Papers in Europe PMC
  5. 05
    Akizu N2 papers · 2026

    The Center for Brain Research in Development, Genetics, and Engineering (BRIDGE), Philadelphia, United States.

    Papers in Europe PMC
  6. 06
    Andermann E2 papers · 2017

    Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

    Papers in Europe PMC
  7. 07
    Andermann F2 papers · 2017

    Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

    Papers in Europe PMC
  8. 08
    Andrade DM2 papers · 2016

    Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Ontario, Canada.

    Papers in Europe PMC
  9. 09
    Arias L2 papers · 2026

    School of Arts and Sciences, The University of Pennsylvania Perelman School of Medicine, Philadelphia, United States.

    Papers in Europe PMC
  10. 10
    Ben-Zeev B2 papers · 2017

    1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.

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

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.

Broader category: myoclonic epilepsy

4

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

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.

"Progressive myoclonic epilepsy type 7" OR "Myoclonus epilepsy and ataxia due to potassium channel mutation" OR "PME type 7" OR "Progressive myoclonic epilepsy due to KV3.1 deficiency" OR "Progressive myoclonus epilepsy type 7" OR "KCNC1 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic type 7" OR "progressive myoclonic epilepsy caused by mutation in KCNC1"

Run this search on Europe PMC

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

"Progressive myoclonic epilepsy type 7" OR "Myoclonus epilepsy and ataxia due to potassium channel mutation" OR "PME type 7" OR "Progressive myoclonic epilepsy due to KV3.1 deficiency" OR "Progressive myoclonus epilepsy type 7" OR "KCNC1 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic type 7" OR "progressive myoclonic epilepsy caused by mutation in KCNC1" OR "KCNC1"

Recall-expansion terms: KCNC1

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.

Parent-category trials query:

"myoclonic epilepsy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EPM7; MEAK

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T16:01:50.339Z