ORPHA:166412
Hot water reflex epilepsy
Also known as: HWE
Publications
145
48th percentile
Trials
0
Interventional, condition-specific
Researchers
667
Distinct authors in sample
Gene link
—
Readiness
3/6
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.”
3/6 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 characterisedPresent
4 HPO annotations (e.g. Generalized hypotonia; Febrile seizure (within the age range of 3 months to 6 years); Drowsiness) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
4
Associated phenotypes · MONDO:0013229
- Generalized hypotonia
- Febrile seizure (within the age range of 3 months to 6 years)
- Drowsiness
- Hypotonia
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
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=3967) is 59.
145 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).
52 in the last 10 years · medium confidence · 48th 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 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.
medium 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.
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.
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 66 · after dedupe 63 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 63 · dropped 0 · fetched 2026-07-30
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 (63)
- isrctn·ISRCTN54738427·No longer recruiting·Food supplement effect on ageing signs
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN62945682·No longer recruiting·Effects of hot pack and ice pack intervention and electrical intervention on sensation and movement ability of the arm and hand in individuals with acute stroke
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN58050062·No longer recruiting·Comparing the efficacy and safety of Sri Lankan traditional medicine regimen for knee osteoarthritis
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN28257448·No longer recruiting·Assessment of selected skin parameters and quality of life after cosmetic procedures
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN97420179·No longer recruiting·The influence of ivabradine in a healthy volunteer pain model
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN09739757·No longer recruiting·A randomised, double blind, placebo-controlled study of RAD001 (Everolimus) in the treatment of neurocognitive problems in tuberous sclerosis
skipped — LLM skipped (--skip-llm)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524019-35-00·Authorised, ongoing·Three-part PK and PD study of AXN-027
skipped — LLM skipped (--skip-llm)
- ctis·2026-525478-21-00·Authorised·A randomized, multiple ascending doses, clinical trial to evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics of CV-01 after double-blind, placebo-controlled multiple oral administrations for 2 weeks in healthy volunteers, and multiple oral administrations open-label for 2 weeks in a cohort of participants with drug resistant epilepsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524511-36-00·Authorised·Impact of epilepsy on the brainstem adenosine pathway and its relation with arousal and respiratory reactivity
BRAVE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524134-26-00·Authorised, ongoing·Effect of NBI-921355 on corticospinal excitability in healthy participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-522552-20-00·Authorised, recruiting·Multicenter, Randomized, Double-blind, Placebo-controlled Trial of Clemizole HCl as Adjunctive Therapy in Patients with Lennox-Gastaut Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524038-24-00·Authorised, recruiting·A Double-blind, Randomized Clinical Trial Evaluating the Efficacy and Safety of Vormatrigine in Adults with Focal Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2025-524199-40-00·Authorised, ongoing·A PET-MRI study of serotoninergic brainstem pathway in patients with Dravet Syndrome - DRAPETONINE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524310-28-00·Authorised, ongoing·A Study Evaluating the Safety and Tolerability of a Novel Formulation of QRL-101 in Healthy Participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-520587-18-00·Authorised, ongoing·RENAISSANCE 2:
A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Parallel-Group Study to Evaluate the Efficacy, Safety, and Tolerability of SPN-817 in Adults with Focal Onset Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2024-519133-29-00·Authorised·Efficacy of probenecid on cluster seizures during dosage reduction of Anti Seizure Medication (ASM) in presurgical focal epilepsy video-EEG monitoring
skipped — LLM skipped (--skip-llm)
- ctis·2025-521640-38-00·Authorised, ongoing·Open Label Extension Clinical Trial of Vormatrigine in Adult Patients with Epilepsy.
skipped — LLM skipped (--skip-llm)
- ctis·2025-520541-72-00·Authorised, ongoing·NBI-1065845-MDD3027: A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Maintenance of Effect of NBI 1065845 as an Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519421-37-00·Authorised, ongoing·NBI-1065845-MDD3026: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519420-25-00·Authorised, ongoing·NBI-1065845-MDD3025: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519423-24-00·Authorised, recruiting·NBI-1065845-MDD3028: A Long-Term, Open-Label Study to Assess the Safety and Tolerability of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519555-28-00·Authorised, recruiting·EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-519418-29-00·Authorised, ongoing·NBI-1065845-MDD3024: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
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 Hot water reflex epilepsy — check Associations / patient organisations on that page.
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"
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: ok — strategies attempted: phrase; 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