HWE1
MCID: EPL074
MIFTS: 15

Epilepsy, Hot Water, 1 (HWE1)

Aliases & Classifications for Epilepsy, Hot Water, 1

MalaCards integrated aliases for Epilepsy, Hot Water, 1:

Name: Epilepsy, Hot Water, 1 58 13
Immersion Related Epilepsy 74
Water Immersion Epilepsy 58
Bathing Epilepsy 58
Hwe1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
reduced penetrance
onset in first decade
seizures are provoked by immersion in hot or warm water
seizures last about 30 seconds to 3 minutes
seizures are followed by drowsiness in most cases
males more affected than females (2 to 2.5:1)
nonreflex epilepsy may occur later in 16 to 38% of patients
about 5% of patients have a history of febrile seizures
high frequency in southern india (7% of all epilepsies)


HPO:

33
epilepsy, hot water, 1:
Onset and clinical course incomplete penetrance juvenile onset
Inheritance heterogeneous autosomal dominant inheritance


External Ids:

OMIM 58 613339
MedGen 43 C4551550
UMLS 74 C0393729

Summaries for Epilepsy, Hot Water, 1

OMIM : 58 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). (613339)

MalaCards based summary : Epilepsy, Hot Water, 1, also known as immersion related epilepsy, is related to epilepsy. An important gene associated with Epilepsy, Hot Water, 1 is HWE1 (Epilepsy, Hot Water, 1). Affiliated tissues include temporal lobe, and related phenotypes are febrile seizures and muscular hypotonia

Related Diseases for Epilepsy, Hot Water, 1

Diseases in the Epilepsy, Hot Water, 1 family:

Epilepsy, Hot Water, 2

Diseases related to Epilepsy, Hot Water, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 9.9

Symptoms & Phenotypes for Epilepsy, Hot Water, 1

Human phenotypes related to Epilepsy, Hot Water, 1:

33
# Description HPO Frequency HPO Source Accession
1 febrile seizures 33 occasional (7.5%) HP:0002373
2 muscular hypotonia 33 HP:0001252
3 generalized hypotonia 33 HP:0001290
4 drowsiness 33 HP:0002329

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hypotonia
staring
automatisms
seizures, complex partial, episodic
secondary generalization occurs in about 33% of patients
more

Clinical features from OMIM:

613339

Drugs & Therapeutics for Epilepsy, Hot Water, 1

Search Clinical Trials , NIH Clinical Center for Epilepsy, Hot Water, 1

Genetic Tests for Epilepsy, Hot Water, 1

Anatomical Context for Epilepsy, Hot Water, 1

MalaCards organs/tissues related to Epilepsy, Hot Water, 1:

42
Temporal Lobe

Publications for Epilepsy, Hot Water, 1

Articles related to Epilepsy, Hot Water, 1:

# Title Authors Year
1
["Hot-water epilepsy ", "warm-water epilepsy", or bathing epilepsy? Report of three cases and considerations regarding an old theme]. ( 16059587 )
2005

Variations for Epilepsy, Hot Water, 1

Expression for Epilepsy, Hot Water, 1

Search GEO for disease gene expression data for Epilepsy, Hot Water, 1.

Pathways for Epilepsy, Hot Water, 1

GO Terms for Epilepsy, Hot Water, 1

Sources for Epilepsy, Hot Water, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....