ORPHA:166412
Hot water reflex epilepsy
Synonyms: HWE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hot water reflex epilepsy | HWE |
| fr | Epilepsie réflexe à l'eau chaude | |
| de | Warmwasser-Reflexepilepsie | HWE · Warmwasser-Epilepsie |
| es | Epilepsia refleja por agua caliente | |
| it | Epilessia riflessa da acqua calda | = en |
| nl | Heet water-reflexepilepsie | HWE · Reflexepilepsie door contact met heet water |
| pt | Epilepsia reflexa a água quente | = en |
| pl | Padaczka prowokowana ciepłą wodą | = en |
| cs | Reflexní epilepsie indukovaná horkou koupelí | = en |
| uk | Епілепсія з рефлекторними судомами, повязаними з дією високих температур | |
| zh | 热水反射性癫痫 | |
| tr | Sıcak su refleks epilepsisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613339 | E | validated | |
| OMIM | 613340 | BTNT | validated | |
| ICD-10 | G40.5 | NTBT | attributed | validated |
| ICD-11 | 8A61.40 | NTBT | index | validated |
| MONDO | 0013229 | E | validated | |
| UMLS | C4706506 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:310Reflex epilepsy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10939 | ENSG00000106688 | 133550 | 9p24.2 | solute carrier family 1 member 1 | 28324217[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Worldwide | Value and class | Validated | 27986877[PMID]_29403278[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166412
- This record as JSON: /data/d/166412.json