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epilepsy, hot water, 1 (HWE1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, hot water, 1

MONDO:0024508

Also known as:HWE1bathing epilepsywater immersion epilepsy

Overview

GeneticsAutosomal dominant

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Febrile seizure (within the age range of 3 months to 6 years). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	2	Low muscle tone (hypotonia), Generalized hypotonia
Brain and nerves

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for epilepsy, hot water, 1.

5 publications have been identified in PubMed for epilepsy, hot water, 1. Research spans Case Report / Case Series (40%), Other (20%), and Review / Meta-Analysis (20%).

Recent Publications

Bhanudeep S (2026). [PMID: 41572370](https://pubmed.ncbi.nlm.nih.gov/41572370/). *Ann Indian Acad Neurol*. [Case Report / Case Series]
Kjertakov M (2025). [PMID: 39185640](https://pubmed.ncbi.nlm.nih.gov/39185640/). *Curr Cardiol Rev*. [Review / Meta-Analysis]
Saini L (2025). [PMID: 39562489](https://pubmed.ncbi.nlm.nih.gov/39562489/). *Indian J Pediatr*. [Other]
Alves Jesus CH (2025). [PMID: 39718050](https://pubmed.ncbi.nlm.nih.gov/39718050/). *Behav Pharmacol*. [Basic Science / Preclinical]
Yimenicioğlu S (2024). [PMID: 39003967](https://pubmed.ncbi.nlm.nih.gov/39003967/). *Epilepsy Res*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613339

GARD

Genetic and Rare Diseases Info Center

GARD:18286

Questions for Your Care Team

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epilepsy, hot water, 1

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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