MCID: EPL140
MIFTS: 38

Epilepsy, Idiopathic Generalized malady

Genetic diseases (common) category

Summaries for Epilepsy, Idiopathic Generalized

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OMIM:45 Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically... (600669) more...

MalaCards based summary: Epilepsy, Idiopathic Generalized, also known as idiopathic generalized epilepsy, is related to epilepsy syndrome and epilepsy idiopathic generalized 8, and has symptoms including autosomal dominant inheritance, generalized tonic-clonic seizures and absence seizures. An important gene associated with Epilepsy, Idiopathic Generalized is ME2 (malic enzyme 2, NAD(+)-dependent, mitochondrial). The compounds xbai and chloride have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype behavior/neurological.

Disease Ontology:9 An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.

Wikipedia:63 Generalized epilepsy, also known as primary generalized epilepsy or idiopathic epilepsy, is a form of... more...

Aliases & Classifications for Epilepsy, Idiopathic Generalized

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Sources:
45OMIM, 43Novoseek, 9Disease Ontology, 11DISEASES, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt
See all sources

Epilepsy, Idiopathic Generalized, Aliases & Descriptions:

Name: Epilepsy, Idiopathic Generalized 45 43
Idiopathic Generalized Epilepsy 9 11 22 60
 
Epilepsy, Generalized 60
Generalised Epilepsy 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 600669
Disease Ontology9 DOID:1827
MeSH33 D004829
NCIt38 C3021

Related Diseases for Epilepsy, Idiopathic Generalized

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Diseases in the Epilepsy, Idiopathic Generalized family:

Epilepsy, Idiopathic Generalized 9 Epilepsy, Idiopathic Generalized 11
Epilepsy Idiopathic Generalized 8

Diseases related to Epilepsy, Idiopathic Generalized via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy syndrome30.7CLCN2, SLC2A1
2epilepsy idiopathic generalized 810.5
3epilepsy, idiopathic generalized, suscpetibility to, 1210.5
4epilepsy with generalized tonic-clonic seizures10.5
5epilepsy, idiopathic generalized 910.5
6neuronitis10.5
7epilepsy, idiopathic generalized 1110.4
8status epilepticus10.4
9epilepsy, generalized, with febrile seizures plus, type 510.3
10temporal lobe epilepsy10.3
11childhood absence epilepsy10.3
12cerebritis10.3
1315q13.3 microdeletion10.3
14myoclonus10.3
15jeavons syndrome10.3
16schizophrenia10.1
17photoparoxysmal response 110.1
18obsessive-compulsive disorder10.1
19epilepsy, childhood absence 610.1
20epilepsy, juvenile myoclonic 510.1
21myoclonic epilepsy, juvenile 110.1
22episodic ataxia10.1
23generalized epilepsy with febrile seizures plus10.1
24frontal lobe epilepsy10.1
25stuttering10.1
26apraxia10.1
27long qt syndrome10.1
28myoclonic astatic epilepsy10.1
29myoclonus epilepsy10.1
30mental retardation10.1
31ataxia10.1
32febrile seizures10.1
33blindness10.1
34perioral myoclonia with absences10.1
35porphyria cutanea tarda10.1
36insulinoma10.1
37primary ciliary dyskinesia10.1
38focal epilepsy10.1
39porphyria10.1
40thyroid cancer10.0SLC2A1, CASR
41juvenile absence epilepsy9.9CLCN2, CACNA1H

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized:



Diseases related to epilepsy, idiopathic generalized

Symptoms for Epilepsy, Idiopathic Generalized

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Symptoms by clinical synopsis from OMIM:

600669

Clinical features from OMIM:

600669

HPO human phenotypes related to Epilepsy, Idiopathic Generalized:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 generalized tonic-clonic seizures HP:0002069
3 absence seizures HP:0002121
4 generalized myoclonic seizures HP:0002123
5 eeg with spike-wave complexes (>3.5 hz) HP:0010849

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Idiopathic Generalized

Search NIH Clinical Center for Epilepsy, Idiopathic Generalized

Genetic Tests for Epilepsy, Idiopathic Generalized

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Genetic tests related to Epilepsy, Idiopathic Generalized:

id Genetic test Affiliating Genes
1 Idiopathic Generalized Epilepsy22

Anatomical Context for Epilepsy, Idiopathic Generalized

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MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized:

31
Brain

Animal Models for Epilepsy, Idiopathic Generalized or affiliated genes

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MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0SLC2A1, GABRD, CASR, CLCN2

Publications for Epilepsy, Idiopathic Generalized

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Variations for Epilepsy, Idiopathic Generalized

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Expression for genes affiliated with Epilepsy, Idiopathic Generalized

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Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized.

Pathways for genes affiliated with Epilepsy, Idiopathic Generalized

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Compounds for genes affiliated with Epilepsy, Idiopathic Generalized

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Compounds related to Epilepsy, Idiopathic Generalized according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1xbai439.5SLC2A1, CASR
2chloride439.4CASR, CLCN2
3verapamil43 28 49 24 1213.4CASR, SLC2A1
4chlorine43 2410.2CLCN2, GABRD
5calcitriol43 59 24 1212.2SLC2A1, CASR
6pyruvate439.2SLC2A1, ME2
7diazepam43 28 49 1212.2SLC2A1, GABRD
8gaba439.2ME2, CASR, SLC2A1
9atp43 2810.0CLCN2, SLC2A1, ME2

GO Terms for genes affiliated with Epilepsy, Idiopathic Generalized

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Cellular components related to Epilepsy, Idiopathic Generalized according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.4SLC2A1, CACNA1H
2chloride channel complexGO:00347078.8GABRD, CLCN2

Biological processes related to Epilepsy, Idiopathic Generalized according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium ion importGO:00705099.2CACNA1H, CASR
2transportGO:00068108.7GABRD, CACNA1H, CLCN2

Products for genes affiliated with Epilepsy, Idiopathic Generalized

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Epilepsy, Idiopathic Generalized

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet