Details of Disease

General Information of Disease (ID: DISC9DVS)

Disease Name Hot water reflex epilepsy
Synonyms water immersion epilepsy; bathing epilepsy; hot water epilepsy; epilepsy, hot water
Definition
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.|Editor note: TODO add ECTO
Disease Hierarchy
DIS3SDCK: Inherited reflex epilepsy
DISC9DVS: Hot water reflex epilepsy
Disease Identifiers
MONDO ID
MONDO_0013229
UMLS CUI
C4706506
MedGen ID
1631373
Orphanet ID
166412
SNOMED CT ID
763534009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC1A1 DTJIRMD Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC1A1 OT3B9M6W Supportive Autosomal dominant [1]
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References

1 Rare SLC1A1 variants in hot water epilepsy. Hum Genet. 2017 Jun;136(6):693-703. doi: 10.1007/s00439-017-1778-7. Epub 2017 Mar 21.