MCID: IDP010
MIFTS: 59

Idiopathic Generalized Epilepsy malady

Summaries for Idiopathic Generalized Epilepsy

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 An epilepsy 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.

MalaCards: Idiopathic Generalized Epilepsy, also known as epilepsy, idiopathic generalized, is related to epilepsy syndrome and juvenile myoclonic epilepsy. An important gene associated with Idiopathic Generalized Epilepsy is ME2 (malic enzyme 2, NAD(+)-dependent, mitochondrial), and among its related pathways are Inwardly rectifying K+ channels and Activation of GABAB receptors. The compounds p1075 and levcromakalim have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and thalamus, and related mouse phenotypes are vision/eye and behavior/neurological.

Wikipedia:63 Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a... more...

Description from OMIM:46 600669

Aliases & Classifications for Idiopathic Generalized Epilepsy

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8Disease Ontology, 22GTR, 10DISEASES, 60UMLS, 46OMIM, 44Novoseek, 56SNOMED-CT, 39NCIt, 34MeSH
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Aliases & Descriptions:

idiopathic generalized epilepsy 8 22 10 60
epilepsy, idiopathic generalized 46 44
epilepsy, generalized 60
generalised epilepsy 8


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Disease Ontology8 DOID:1827
NCIt39 C3021
MeSH34 D004829

Related Diseases for Idiopathic Generalized Epilepsy

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17GeneCards, 18GeneDecks
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Diseases in the Idiopathic Generalized Epilepsy family:

Epilepsy, Idiopathic Generalized, Susceptibility to, 8 Epilepsy, Idiopathic Generalized, 10
Epilepsy, Idiopathic Generalized 9 Epilepsy, Idiopathic Generalized 11
Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized 3
Epilepsy, Idiopathic Generalized 5 Epilepsy, Idiopathic Generalized 4
Epilepsy, Idiopathic Generalized 2 Epilepsy, Idiopathic Generalized 7
Epilepsy, Idiopathic Generalized 6

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy syndrome31.0CACNB4, CSTB, SCN1B, GABRG2, ZACN, HCN2
2juvenile myoclonic epilepsy30.8CHRNA4, GABRG2
3childhood absence epilepsy30.5GABRG2, CHRNA4, HCN2
4focal epilepsy30.4CHRNA4, GABRG2
5juvenile absence epilepsy30.4CLCN2, GABRG2
6frontal lobe epilepsy30.3CHRNA4, GABRG2, SCN1B
7epilepsy with generalized tonic-clonic seizures10.4
8status epilepticus10.4
9neuronitis10.4
10epilepsy, idiopathic generalized, susceptibility to, 810.4
11temporal lobe epilepsy10.3
12cerebritis10.3
13visual epilepsy10.3
1415q13.3 microdeletion10.3
15extratemporal epilepsy10.2
16epilepsy, idiopathic generalized, 1010.2
17epilepsy, idiopathic generalized, suscpetibility to, 1210.2
18epilepsy, juvenile myoclonic 610.2
19epilepsy, idiopathic generalized 910.2
20epilepsy, idiopathic generalized 1110.2
21epilepsy, idiopathic generalized 110.2
22epilepsy, idiopathic generalized 310.2
23epilepsy, idiopathic generalized 510.2
24epilepsy, idiopathic generalized 410.2
25epilepsy, idiopathic generalized 210.2
26epilepsy, idiopathic generalized 710.2
27epilepsy, idiopathic generalized 610.2
28epilepsy, generalized, with febrile seizures plus, type 310.1
29episodic ataxia10.1
30obsessive-compulsive disorder10.1
31adult syndrome10.1
32apraxia10.1
33long qt syndrome10.1
34schizophrenia10.1
35photosensitive epilepsy10.1
36epilepsy, childhood absence, susceptibility to, 210.1
37epilepsy, generalized, with febrile seizures plus, type 510.1
38epilepsy, juvenile myoclonic 810.1
39epilepsy, juvenile myoclonic 510.1
40jeavons syndrome10.1
41epilepsy, generalized, with febrile seizures plus, type 410.0
42epilepsy, generalized, with febrile seizures plus, type 210.0
43epilepsy, generalized, with febrile seizures plus, type 710.0
44epilepsy, generalized, with febrile seizures plus, type 610.0
45epilepsy, generalized, with febrile seizures plus, type 110.0
46porphyria cutanea tarda10.0
47good syndrome10.0
48primary ciliary dyskinesia10.0
49insulinoma10.0
50chromosomal disease10.0

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



Diseases related to idiopathic generalized epilepsy

Clinical Features for Idiopathic Generalized Epilepsy

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46OMIM
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Clinical features from OMIM:

600669

Clinical synopsis from OMIM:

600669

Drugs & Therapeutics for Idiopathic Generalized Epilepsy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Idiopathic Generalized Epilepsy

Drug clinical trials:

Search ClinicalTrials for Idiopathic Generalized Epilepsy

Search NIH Clinical Center for Idiopathic Generalized Epilepsy

Search CenterWatch for Idiopathic Generalized Epilepsy

Genetic Tests for Idiopathic Generalized Epilepsy

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22GTR
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Genetic tests related to Idiopathic Generalized Epilepsy:

id Genetic test Affiliating Genes
1 Idiopathic Generalized Epilepsy22

Anatomical Context for Idiopathic Generalized Epilepsy

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32MalaCards
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MalaCards organs/tissues related to Idiopathic Generalized Epilepsy:

32
Brain, Cortex, Thalamus, Temporal lobe, Cerebellum, Occipital lobe

Animal Models for Idiopathic Generalized Epilepsy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Idiopathic Generalized Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539110.2CACNB4, CSTB, SCN1B, CLCN2, SLC4A3, KCNJ10
2MP:00053869.8SLC4A3, KCNJ9, KCNJ10, CACNB4, CSTB, SCN1B
3MP:00036319.6SCN1B, CSTB, CACNB4, KCNJ10, KCNJ9, GABRD

Publications for Idiopathic Generalized Epilepsy

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50PubMed
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Articles related to Idiopathic Generalized Epilepsy:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. (23350840)
2013
2
Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India. (23956556)
2013
3
15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. (23352738)
2013
4
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. (23280796)
2012
5
Acute psychosis during the postictal period in a patient with idiopathic generalized epilepsy: postictal psychosis or aggravation of schizophrenia? A case report and review of the literature. (22652424)
2012
6
Default mode network abnormalities in idiopathic generalized epilepsy. (22381387)
2012
7
Resting state basal ganglia network in idiopathic generalized epilepsy. (21520351)
2012
8
Mutated GABAA receptor subunits in idiopathic generalized epilepsy (22787675)
2012
9
Prevalence and characteristics of visual aura in idiopathic generalized epilepsy. (23159381)
2012
10
Dynamics of frequency flow in epileptic brain during extra-temporal partial and idiopathic generalized epilepsy. (22100146)
2012
11
GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy. (21887291)
2011
12
EEG functional connectivity of the intrahemispheric cortico-cortical network of idiopathic generalized epilepsy. (21601428)
2011
13
Executive functions in adolescents with idiopathic generalized epilepsy. (21968883)
2011
14
Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (20141545)
2010
15
Correlation between quantitative EEG and MRI in idiopathic generalized epilepsy. (20082332)
2010
16
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. (20037607)
2010
17
EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state. (19243419)
2009
18
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. (19592580)
2009
19
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. (19136953)
2009
20
Fourteen-year follow-up in a teenager with congenital long QT syndrome masquerading as idiopathic generalized epilepsy. (19429740)
2009
21
Genetic polymorphism and idiopathic generalized epilepsy. Evidence of interaction between haptoglobin and ACP1 systems. (19569003)
2008
22
Is vagus nerve stimulation a treatment option for patients with drug-resistant idiopathic generalized epilepsy? (17419830)
2007
23
Outcomes of newly diagnosed idiopathic generalized epilepsy syndromes in a non-pediatric setting. (17295717)
2007
24
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. (17397049)
2007
25
Association of GABRG2 polymorphisms with idiopathic generalized epilepsy. (17162195)
2007
26
Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. (16958040)
2007
27
A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. (16565161)
2006
28
Tonic status epilepticus in patients with idiopathic generalized epilepsy. (16338675)
2005
29
Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. (16205844)
2005
30
Seizures of idiopathic generalized epilepsies. (16302874)
2005
31
Subcortical nuclei volumetry in idiopathic generalized epilepsy. (16190937)
2005
32
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. (15852375)
2005
33
CLCN2 and idiopathic generalized epilepsy. (15508929)
2005
34
Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. (15725393)
2005
35
Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families. (15009221)
2004
36
Chronic management of seizures in the syndromes of idiopathic generalized epilepsy. (12752459)
2003
37
EEG in adult-onset idiopathic generalized epilepsy. (12558583)
2003
38
From molecules to networks: cortical/subcortical interactions in the pathophysiology of idiopathic generalized epilepsy. (12752456)
2003
39
Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy. (12049805)
2002
40
Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy. (12221164)
2002
41
Auditory event related potentials relate with the clinical progression in idiopathic generalized epilepsy. (11234568)
2001
42
Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsy. (10094433)
1999
43
Efficacy of lamotrigine in idiopathic generalized epilepsy syndromes: a video-EEG-controlled, open study. (10937148)
1999
44
The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy. (9477143)
1998
45
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. (9259383)
1997
46
Central benzodiazepine/gamma-aminobutyric acid A receptors in idiopathic generalized epilepsy: an [11C]flumazenil positron emission tomography study. (9579955)
1997
47
Complex segregation analysis of non-myoclonic idiopathic generalized epilepsy in families ascertained from probands affected with idiopathic epilepsy with tonic-clonic seizures in Antioquia, Colombia. (8698346)
1996
48
The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal. (7746411)
1995
49
Benzodiazepine-GABAA receptors in idiopathic generalized epilepsy measured with [11C]flumazenil and positron emission tomography. (7821267)
1995
50
Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. (8352275)
1993

Genetic Variations for Idiopathic Generalized Epilepsy

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Expression for genes affiliated with Idiopathic Generalized Epilepsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Idiopathic Generalized Epilepsy

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Pathways for genes affiliated with Idiopathic Generalized Epilepsy

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53Reactome, 12EMD Millipore, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Idiopathic Generalized Epilepsy

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59Tocris Bioscience, 11DrugBank, 28IUPHAR, 44Novoseek, 24HMDB, 49PharmGKB
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Compounds related to Idiopathic Generalized Epilepsy according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1p10755910.8KCNJ9, KCNJ10
2levcromakalim5910.8KCNJ9, KCNJ10
3tertiapin-q5910.8KCNJ9, KCNJ10
4Cinolazepam1110.8GABRG2, GABRD
5Halazepam1110.7GABRG2, GABRD
6Fludiazepam1110.7GABRG2, GABRD
7(+)-bicuculline5910.7GABRD, GABRG2
8(-)-bicuculline methochloride5910.7GABRD, GABRG2
9(-)-bicuculline methiodide5910.7GABRD, GABRG2
10sr 95531 hydrobromide5910.7GABRD, GABRG2
11zn2+2810.7ZACN, CLCN2
12Prazepam1110.7GABRD, GABRG2
13estazolam44 1111.7GABRG2, GABRD
14Adinazolam1110.7GABRG2, GABRD
15quazepam44 1111.7GABRG2, GABRD
16chlorine44 2411.7GABRD, GABRG2, HCN2, CLCN2
17Clotiazepam1110.7GABRD, GABRG2
18Clorazepate1110.7GABRG2, GABRD
19bromazepam44 1111.6GABRD, GABRG2
20nitrazepam44 1111.6GABRD, GABRG2
21Temazepam1110.6GABRD, GABRG2
22lorazepam44 49 1112.6GABRD, GABRG2
23sodium44 2411.6SCN1B, GABRG2, ZACN, CHRNA4, HCN2, CLCN2
24flurazepam44 1111.6GABRD, GABRG2
25oxazepam49 1111.6GABRD, GABRG2
26clobazam44 49 1112.5GABRD, GABRG2
27potassium44 11 2412.5HCN2, KCNJ9, KCNMB3, SCN1B, GABRG2, ZACN
28chlordiazepoxide44 1111.5GABRD, GABRG2
29tbps44 2811.4GABRD, GABRG2
30clonazepam44 1111.4GABRD, GABRG2
31alprazolam44 1111.4GABRG2, GABRD
32muscimol44 59 2812.3GABRG2, GABRD
33triazolam44 1111.1GABRG2, GABRD

GO Terms for genes affiliated with Idiopathic Generalized Epilepsy

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16Gene Ontology
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Cellular components related to Idiopathic Generalized Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:03005410.3CHRNA4, ARC, GABRG2, GABRD
2postsynaptic membraneGO:04521110.2CHRNA4, ZACN, ARC, GABRG2, GABRD
3chloride channel complexGO:03470710.0GABRD, GABRG2, CLCN2
4plasma membraneGO:0058869.8CACNB4, KCNMB3, KCNJ10, KCNJ9, GABRG2, ARC

Biological processes related to Idiopathic Generalized Epilepsy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarizationGO:05189910.4CHRNA4, SCN1B, CACNB4
2adult walking behaviorGO:00762810.4CACNB4, KCNJ10
3neuronal action potential propagationGO:01922710.4SCN1B, CACNB4
4transportGO:00681010.3CACNB4, GABRD, GABRG2, CLCN2, SLC4A3
5regulation of action potentialGO:00150810.3KCNMB3, CHRNA4
6synaptic transmissionGO:00726810.2HCN2, KCNJ9, KCNJ10, KCNMB3, CACNB4, SCN1B
7gamma-aminobutyric acid signaling pathwayGO:00721410.1GABRG2, CACNB4

Molecular functions related to Idiopathic Generalized Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:00489010.4GABRG2, GABRD
2extracellular ligand-gated ion channel activityGO:00523010.0ZACN, GABRG2, GABRD

Products for genes affiliated with Idiopathic Generalized Epilepsy

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Sources for Idiopathic Generalized Epilepsy

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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