EPILEPSY, HOT WATER, 1

General Information (adopted from Orphanet):

Synonyms, Signs: WATER IMMERSION EPILEPSY
BATHING EPILEPSY
HWE1
Number of Symptoms 13
OrphanetNr:
OMIM Id: 613339
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010547) Muscle flaccidity 466 / 7739
2
(HPO:0001252) Muscular hypotonia 990 / 7739
3
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
4
(HPO:0001324) Muscle weakness 859 / 7739
5
(OMIM) Interictal EEG may show nonspecific changes in 15 to 20% 1 / 7739
6
(OMIM) SPECT scan may show hypermetabolism of the temporal lobe 1 / 7739
7
(OMIM) Seizures, complex partial, episodic 1 / 7739
8
(MedDRA:10041953) Staring 5 / 7739
9
(OMIM) Interictal EEG is usually normal 1 / 7739
10
(MedDRA:10003830) Automatism 4 / 7739
11
(OMIM) Unresponsiveness 1 / 7739
12
(OMIM) Ictal EEG shows focal, temporal, unilateral, rhythmic slow wave activity of high amplitude 1 / 7739
13
(OMIM) Secondary generalization occurs in about 33% of patients 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Allen (1945) provided an early description of hot water epilepsy in 1 of a series of 21 patients with various forms of reflex epilepsy, defined as a condition in which a sensory stimulus precipitates a seizure. The patient ...
Population genetics OMIM Hot water epilepsy is especially common in south India and has been estimated to account for 6.9% of all epilepsies in this region, with a prevalence rate ranging from 60 per 100,000 to 255 per 100,000. Satishchandra (2003) ...