JAE
MCID: EPL054
MIFTS: 19

Epilepsy, Juvenile Absence, Susceptibility to, 1 (JAE) malady

Neuronal diseases category

Summaries for Epilepsy, Juvenile Absence, Susceptibility to, 1

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46OMIM, 32MalaCards
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MalaCards: Epilepsy, Juvenile Absence, Susceptibility to, 1, also known as epilepsy, juvenile absence 1, is related to juvenile absence epilepsy and childhood absence epilepsy. An important gene associated with Epilepsy, Juvenile Absence, Susceptibility to, 1 is EJM1 (epilepsy, juvenile myoclonic 1).

Description from OMIM:46 607631

Aliases & Classifications for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Sources:
20GeneTests, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
juvenile absence epilepsy:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

epilepsy, juvenile absence, susceptibility to, 1 20 60
epilepsy, juvenile absence 1 46
juvenile absence epilepsy 48
jae 48


External Ids:

OMIM46 607631
MESH via Orphanet35 C535495
ICD10 via Orphanet26 G40.3
SNOMED-CT via Orphanet57 230413002
UMLS via Orphanet61 C2930918

Related Diseases for Epilepsy, Juvenile Absence, Susceptibility to, 1

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17GeneCards, 18GeneDecks
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Diseases in the Juvenile Absence Epilepsy family:

Early Onset Absence Epilepsy epilepsy, juvenile absence, susceptibility to, 1
Epilepsy, Juvenile Absence, Susceptibility to, 2

Diseases related to Epilepsy, Juvenile Absence, Susceptibility to, 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1juvenile absence epilepsy10.7
2childhood absence epilepsy10.1
3epilepsy with generalized tonic-clonic seizures10.1
4succinic semialdehyde dehydrogenase deficiency10.1
5idiopathic generalized epilepsy10.1
6epilepsy, generalized, with febrile seizures plus, type 510.1
7epilepsy, juvenile myoclonic 810.1
8juvenile myoclonic epilepsy10.0EJM1, EFHC1

Graphical network of diseases related to Epilepsy, Juvenile Absence, Susceptibility to, 1:



Diseases related to epilepsy, juvenile absence, susceptibility to, 1

Clinical Features for Epilepsy, Juvenile Absence, Susceptibility to, 1

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46OMIM
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Clinical features from OMIM:

607631

Clinical synopsis from OMIM:

607631

Drugs & Therapeutics for Epilepsy, Juvenile Absence, Susceptibility to, 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Epilepsy, Juvenile Absence, Susceptibility to, 1

Drug clinical trials:

Search ClinicalTrials for Epilepsy, Juvenile Absence, Susceptibility to, 1

Search NIH Clinical Center for Epilepsy, Juvenile Absence, Susceptibility to, 1

Search CenterWatch for Epilepsy, Juvenile Absence, Susceptibility to, 1

Genetic Tests for Epilepsy, Juvenile Absence, Susceptibility to, 1

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20GeneTests
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Genetic tests related to Epilepsy, Juvenile Absence, Susceptibility to, 1:

id Genetic test Affiliating Genes
1 Epilepsy, Juvenile Absence, Susceptibility to, 120 EFHC1

Anatomical Context for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Animal Models for Epilepsy, Juvenile Absence, Susceptibility to, 1 or affiliated genes

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Publications for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Genetic Variations for Epilepsy, Juvenile Absence, Susceptibility to, 1

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Expression for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

Search GEO for disease gene expression data for Epilepsy, Juvenile Absence, Susceptibility to, 1.

Pathways for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Compounds for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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GO Terms for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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Products for genes affiliated with Epilepsy, Juvenile Absence, Susceptibility to, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epilepsy, Juvenile Absence, Susceptibility to, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet