ORPHA:209967
Episodic ataxia type 6
Publications
68
53th percentile
Trials
0
Interventional, condition-specific
Researchers
372
Distinct authors in sample
Gene link
SLC1A3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Episodic type 6 (EA6) is an exceedingly rare form of episodic with varying degrees of and associated findings including slurred speech, headache, confusion and hemiplegia.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012982
- MeSH:C567207
- OMIM:612656
- UMLS:C2675211
Additional Mondo synonyms (3)
SLC1A3 hereditary episodic ataxia · episodic ataxia type 6 · hereditary episodic ataxia caused by mutation in SLC1A3
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SLC1A3
- LiteraturePresent
68 matched papers (49 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (SLC1A3).
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?
68
68 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.
68 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).
49 in the last 10 years · high confidence · 53th percentile (publications denominator)
Phrase hits: 68 · MeSH hits: 5
Who's working on it?
372
Distinct author names in 68 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.
- 01Fahlke C9 papers · 2026
Molekular- und Zellphysiologie (IBI-1), Institute of Biological Information Processing, Forschungszentrum Jülich, Jülich, Germany. Electronic address: c.fahlke@fz-juelich.de.
Papers in Europe PMC - 02Kovermann P6 papers · 2026
Institut für Biologische Informationsprozesse, Molekular- und Zellphysiologie (IBI-1), Forschungszentrum Jülich, 52428 Jülich, Germany.
Papers in Europe PMC - 03Ryan RM5 papers · 2022
School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Papers in Europe PMC - 04Kortzak D4 papers · 2023
Molekular- und Zellphysiologie (IBI-1), Institute of Biological Information Processing, Forschungszentrum Jülich, Jülich, Germany.
Papers in Europe PMC - 05van Meyel DJ4 papers · 2022
McGill Centre for Research in Neuroscience, Montreal, Quebec H3G 1A4, Canada, BRaIN Program, Research Institute of the McGill University Health Centre, Montreal, Quebec H3G 1A4, Canada, Integrated Program in Neuroscience, McGill University, Montreal, Quebec H3A 2B4, Canada, and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada don.vanmeyel@mcgill.ca.
Papers in Europe PMC - 06Wu Q4 papers · 2022
Transporter Biology Group, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Papers in Europe PMC - 07Griffiths LR3 papers · 2024
Genomics Research Centre, Institute of Health and Biomedical Innovation. School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, QLD, Australia. lyn.griffiths@qut.edu.au.
Papers in Europe PMC - 08Machtens JP3 papers · 2023
Institute of Biological Information Processing, Molekular- und Zellphysiologie (IBI-1), Forschungszentrum Jülich, Jülich, Germany.
Papers in Europe PMC - 09Pant S3 papers · 2022
NIH Center for Macromolecular Modeling and Bioinformatics, Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
Papers in Europe PMC - 10Sutherland HG3 papers · 2024
Genomics Research Centre, Institute of Health and Biomedical Innovation. School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, QLD, Australia.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 2026-07-26This 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 6" OR "SLC1A3 hereditary episodic ataxia" OR "hereditary episodic ataxia caused by mutation in SLC1A3"
MeSH descriptor terms unioned into the query: Episodic Ataxia, Type 6
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Episodic ataxia type 6" OR "SLC1A3 hereditary episodic ataxia" OR "hereditary episodic ataxia caused by mutation in SLC1A3" OR "Episodic Ataxia, Type 6" OR "SLC1A3"
Recall-expansion terms: SLC1A3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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
Ingested 2026-07-27T09:27:49.264Z