ORPHA:211067
Episodic ataxia type 5
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
153
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Episodic type 5 (EA5) is an extremely rare form of episodic characterized by recurrent episodes of vertigo and lasting several hours.
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:0013464
- MeSH:C566601
- OMIM:613855
- UMLS:C1866039
Additional Mondo synonyms (2)
CACNB4 hereditary episodic ataxia · hereditary episodic ataxia caused by mutation in CACNB4
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
17 matched papers (15 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?
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?
17
17 papers have ever been indexed 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.
17 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).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
153
Distinct author names in 17 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.
- 01Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 02Lopez-Escamez JA2 papers · 2015
Otology and Neurotology Group CTS495, Human DNA Variability Department, GENYO Centre for Genomics and Oncological Research Pfizer - University of Granada - Junta de Andalucia , Granada , Spain ; Department of Otolaryngology, Hospital de Poniente , El Ejido , Spain.
Papers in Europe PMC - 03Abdulkareem AA1 paper · 2022
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 04Akdemir ZC1 paper · 2019
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 05Aldinger KA1 paper · 2024
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Papers in Europe PMC - 06Algahtani H1 paper · 2022
King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Papers in Europe PMC - 07Álvarez S1 paper · 2019
Department of Neurology (MGS, JG), Hospital Universitario Miguel Servet; Department of Clinical Biochemistry (SI), Hospital Universitario Miguel Servet, Section of Genetics, Zaragoza; NIMGenetics (SA), Madrid; Department of Internal Medicine (REBA), Hospital Universitario Miguel Servet, Zaragoza; Department of Neurology (JB), Hospital Universitario Marqués de Valdecilla, Santander, Spain.
Papers in Europe PMC - 08Appendino JP1 paper · 2019
Clinical Neuroscience, Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Papers in Europe PMC - 09Arican P1 paper · 2019
Department of Pediatric Neurology, Tepecik Training and Research Hospital, Izmir, Turkey.
Papers in Europe PMC - 10Arslan N1 paper · 2022
Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey.
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 5" OR "CACNB4 hereditary episodic ataxia" OR "hereditary episodic ataxia caused by mutation in CACNB4"
MeSH descriptor terms unioned into the query: Episodic Ataxia, Type 5
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Episodic ataxia type 5" OR "CACNB4 hereditary episodic ataxia" OR "hereditary episodic ataxia caused by mutation in CACNB4" OR "Episodic Ataxia, Type 5"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T09:32:46.720Z