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 57 13
Immersion Related Epilepsy 73
Water Immersion Epilepsy 57
Bathing Epilepsy 57
Hwe1 57

Characteristics:

OMIM:

57
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:

32
epilepsy, hot water, 1:
Onset and clinical course incomplete penetrance juvenile onset
Inheritance heterogeneous autosomal dominant inheritance


External Ids:

OMIM 57 613339
MedGen 42 C0393729
UMLS 73 C0393729

Summaries for Epilepsy, Hot Water, 1

OMIM : 57 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 muscular hypotonia and febrile seizures

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epilepsy, Hot Water, 1:

32
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 febrile seizures 32 occasional (7.5%) HP:0002373
3 generalized hypotonia 32 HP:0001290
4 drowsiness 32 HP:0002329

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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