HWE1
MCID: EPL074
MIFTS: 17

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 70
Water Immersion Epilepsy 57
Bathing Epilepsy 57
Hwe1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
epilepsy, hot water, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset incomplete penetrance


External Ids:

OMIM® 57 613339
OMIM Phenotypic Series 57 PS613339
MedGen 41 C4551550
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Epilepsy, Hot Water, 1, also known as immersion related epilepsy, is related to epilepsy and reflex 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 seizure (within the age range of 3 months to 6 years) and generalized 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 10.2
2 reflex epilepsy 10.2
3 seizure disorder 9.9

Symptoms & Phenotypes for Epilepsy, Hot Water, 1

Human phenotypes related to Epilepsy, Hot Water, 1:

31
# Description HPO Frequency HPO Source Accession
1 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
2 generalized hypotonia 31 HP:0001290
3 drowsiness 31 HP:0002329
4 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Temporal Lobe

Publications for Epilepsy, Hot Water, 1

Articles related to Epilepsy, Hot Water, 1:

# Title Authors PMID Year
1
Intra-familial incidence and characteristics of hot water epilepsy. 57
19831125 2009
2
A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3. 57
19266219 2009
3
Hot-water epilepsy: a new Caucasian case. 57
15578219 2005
4
Hot-water epilepsy. 57
12558829 2003
5
Hot-water epilepsy--a peculiar type of reflex epilepsy: clinical and EEG features in 108 cases. 57
4463542 1974
6
"Hot-water epilepsy"--a peculiar type of reflex epilepsy. A preliminary report. 57
5709924 1968
7
Genetic basis of hybrid breakdown in a Japonica/Indica cross of rice, Oryza sativa L. 61
12582916 2002

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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