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ORPHA:37612

Episodic ataxia type 1

low confidenceDisorder

Also known as: Episodic ataxia with myokymia

Publications

2,657

Trials

0

Interventional, condition-specific

Researchers

1,004

Distinct authors in sample

Gene link

KCNA1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A frequent form of episodic characterized by brief episodes of , neuromyotonia, and continuous interictal myokymia.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (15)

EA1 · Isaacs-Mertens syndrome · KCNA1 hereditary episodic ataxia · acetazolamide-responsive periodic ataxia · ataxia, episodic, with myokymia · continuous muscle fiber activity · episodic ataxia with myokymia · episodic ataxia, type 1 · episodic ataxia/myokymia syndrome · familial paroxysmal kinesigenic ataxia and continuous myokymia · hereditary episodic ataxia caused by mutation in KCNA1 · hereditary paroxysmal ataxia with neuromyotonia · myokymia with episodic ataxia · myokymia with periodic ataxia · paroxysmal ataxia with neuromyotonia, hereditary

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — KCNA1

  2. LiteraturePresent

    2,657 matched papers (1,673 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Abnormality of the hand; Incoordination; Hyperreflexia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (KCNA1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

42

Associated phenotypes · MONDO:0008047

  • Abnormality of the hand
  • Incoordination
  • Hyperreflexia
  • Babinski sign
  • Vertigo

Showing 5 of 42 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

2,657

2,657 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.

2,657 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).

1,673 in the last 10 years · low confidence

Phrase hits: 543 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,004

Distinct author names in 200 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
    D'Adamo MC17 papers · 2026

    Section of Physiology and Biochemistry, Department of Experimental Medicine, School of Medicine, University of Perugia Perugia, Italy ; Section of Neurophysiology and Biophysics, Istituto Euro-Mediterraneo di Scienza e Tecnologia Palermo, Italy.

    Papers in Europe PMC
  2. 02
    Pessia M14 papers · 2026

    Section of Physiology and Biochemistry, Department of Experimental Medicine, School of Medicine, University of Perugia Perugia, Italy ; Section of Neurophysiology and Biophysics, Istituto Euro-Mediterraneo di Scienza e Tecnologia Palermo, Italy.

    Papers in Europe PMC
  3. 03
    Imbrici P13 papers · 2026

    Section of Human Physiology, Dept. of Internal Medicine, Univ. of Perugia School of Medicine, Via del Giochetto, I-06126 Perugia, Italy.

    Papers in Europe PMC
  4. 04
    Kullmann DM11 papers · 2023

    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom; d.kullmann@ucl.ac.uk.

    Papers in Europe PMC
  5. 05
    Hanna MG10 papers · 2023

    MRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BT, UK.

    Papers in Europe PMC
  6. 06
    Graves TD6 papers · 2023

    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Abbott GW5 papers · 2026

    Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, Irvine, CA, USA.

    Papers in Europe PMC
  8. 08
    Baloh RW5 papers · 2023

    Department of Neurology, University of California, Los Angeles, CA 90095-1769, USA. rwbaloh@ucla.edu

    Papers in Europe PMC
  9. 09
    Manville RW5 papers · 2026

    Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, Irvine, CA, USA.

    Papers in Europe PMC
  10. 10
    Rajakulendran S5 papers · 2013

    Department of Molecular Neuroscience, Centre for Neuromuscular Disease, Queen Square, London WC1N 3BG, United Kingdom.

    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 Episodic ataxia type 1 — 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.

("Episodic ataxia type 1" OR "Episodic ataxia with myokymia" OR "Isaacs-Mertens syndrome" OR "KCNA1 hereditary episodic ataxia" OR "acetazolamide-responsive periodic ataxia" OR "ataxia, episodic, with myokymia" OR "continuous muscle fiber activity" OR "episodic ataxia, type 1" OR "episodic ataxia/myokymia syndrome" OR "familial paroxysmal kinesigenic ataxia and continuous myokymia" OR "hereditary episodic ataxia caused by mutation in KCNA1" OR "hereditary paroxysmal ataxia with neuromyotonia" OR "myokymia with episodic ataxia" OR "myokymia with periodic ataxia" OR "paroxysmal ataxia with neuromyotonia, hereditary") OR ("KCNA1" OR "KCNA1 syndrome" OR "KCNA1-related")

Run this search on Europe PMC

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

"Episodic ataxia type 1" OR "Episodic ataxia with myokymia" OR "Isaacs-Mertens syndrome" OR "KCNA1 hereditary episodic ataxia" OR "acetazolamide-responsive periodic ataxia" OR "ataxia, episodic, with myokymia" OR "continuous muscle fiber activity" OR "episodic ataxia, type 1" OR "episodic ataxia/myokymia syndrome" OR "familial paroxysmal kinesigenic ataxia and continuous myokymia" OR "hereditary episodic ataxia caused by mutation in KCNA1" OR "hereditary paroxysmal ataxia with neuromyotonia" OR "myokymia with episodic ataxia" OR "myokymia with periodic ataxia" OR "paroxysmal ataxia with neuromyotonia, hereditary"

Study-type breakdown: 0 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: EA1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Isaacs-Mertens syndrome" also appears on ORPHA:84142
  • Publication count (2657) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:59:20.712Z