Epilepsy, hot water, 1

Preferred Label : Epilepsy, hot water, 1;

Symbol : HWE1;

CISMeF acronym : HWE1;

Type : Phenotype or locus, molecular basis unknown;

Description : A susceptibility locus for hot water epilepsy (HWE1) has been mapped to chromosome 10q21.3-q22.3. Another locus for hot water epilepsy, HWE2 (613340), maps to chromosome 4q24-q28. Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy in which seizures are precipitated by immersion in hot water or pouring of hot water over the head during bathing. The seizures are usually complex partial, but about 33% of patients experience secondary generalization. There are no additional neurologic abnormalities (Satishchandra, 2003).;

Inheritance : Autosomal dominant;

Prefixed ID : %613339;

Details

Origin ID

613339;

UMLS CUI

C4551550;

Automatic exact mappings (from CISMeF team)
- Hot water reflex epilepsy [ORDO Disease]
False automatic mappings
- Aquagenic epilepsy (disorder) [SNOMED CT concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Drowsiness [HPO term]
- Epilepsy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized hypotonia [HPO term]
- Heterogeneous [HPO term]
- Hypotonia [HPO term]
- Incomplete penetrance [HPO term]
- Juvenile onset [HPO term]
ORDO concept(s)
- Hot water reflex epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aquagenic epilepsy (disorder) [SNOMED CT concept]
- immersion related epilepsy [MeSH concept]

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