ORPHA:166412
Hot water reflex epilepsy
Also known as: HWE
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
145
53.9th percentile
Trials
0
Interventional, condition-specific
Researchers
667
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Hot water reflex is a rare neurologic disease characterized by the onset of generalized or focal following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic have been reported in rare cases.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013229
- UMLS:C4706506
Additional Mondo synonyms (2)
epilepsy, hot water · hot water epilepsy
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
145 matched papers (52 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 trialPartial
None under the specific name; 2 for broader category reflex epilepsy
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?
145
145 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.
145 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).
52 in the last 10 years · medium confidence · 53.9th percentile (publications denominator)
Phrase hits: 145 · MeSH hits: 0
Who's working on it?
667
Distinct author names in 145 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.
- 01Satishchandra P25 papers · 2020
Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, India.
Papers in Europe PMC - 02Sinha S14 papers · 2020
Department of Neurology, National Institute of Mental Health and Neuro-Sciences (NIMHANS), Bangalore, India.
Papers in Europe PMC - 03Anand A5 papers · 2019
Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR), Bangalore, 560 064, India. anand@jncasr.ac.in.
Papers in Europe PMC - 04Bharath RD5 papers · 2016
Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore Karnataka, India.
Papers in Europe PMC - 05Ullal GR5 papers · 2006
Department of Physiology, M. S. Ramaiah Medical College, Bangalore.
Papers in Europe PMC - 06Bebek N4 papers · 2021
Department of Neurology, Istanbul Faculty of Medicine, University of Istanbul, Istanbul, Turkey.
Papers in Europe PMC - 07Panda R4 papers · 2016
Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore Karnataka, India.
Papers in Europe PMC - 08Shankar SK4 papers · 2006Papers in Europe PMC
- 09Chaitanya G3 papers · 2016
Neurology, National Institute of Mental Health and Neurosciences, Bangalore Karnataka, India.
Papers in Europe PMC - 10Gowda VK3 papers · 2023
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
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). 2 trials are registered for reflex epilepsy, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
medium 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.
2 interventional trials matched reflex epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: reflex epilepsy
2
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.
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.
"Hot water reflex epilepsy" OR "epilepsy, hot water" OR "hot water epilepsy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hot water reflex epilepsy" OR "epilepsy, hot water" OR "hot water epilepsy" OR "inherited reflex epilepsy"
Recall-expansion terms: inherited reflex epilepsy
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"reflex epilepsy"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HWE
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 2026-07-27T08:23:50.932Z