MCID: IDP010
MIFTS: 54

Idiopathic Generalized Epilepsy malady

Summaries for Idiopathic Generalized Epilepsy

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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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 juvenile myoclonic epilepsy and childhood absence 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. Related mouse phenotypes are vision/eye and behavior/neurological.

Wikipedia:64 Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a... more...

Description from OMIM:47 600669

Aliases & Classifications for Idiopathic Generalized Epilepsy

Sources:
8Disease Ontology, 22GTR, 10DISEASES, 61UMLS, 47OMIM, 45Novoseek, 57SNOMED-CT, 40NCIt, 35MeSH
See all sources

Aliases & Descriptions:

idiopathic generalized epilepsy 8 22 10 61
epilepsy, idiopathic generalized 47 45
epilepsy, generalized 61
generalised epilepsy 8


External Ids:

Disease Ontology8 DOID:1827
NCIt40 C3021
MeSH35 D004829

Related Diseases for Idiopathic Generalized Epilepsy

Sources:
17GeneCards, 18GeneDecks
See all sources

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 55)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile myoclonic epilepsy30.8CHRNA4, GABRG2
2childhood absence epilepsy30.5HCN2, CHRNA4, GABRG2
3juvenile absence epilepsy30.4GABRG2, CLCN2
4frontal lobe epilepsy30.3SCN1B, GABRG2, CHRNA4
5febrile seizures30.1SCN1B, GABRG2, CHRNA4
6photosensitive epilepsy10.5
7epilepsy, idiopathic generalized 110.5
8status epilepticus10.4
9epilepsy, idiopathic generalized, susceptibility to, 810.4
10epilepsy, idiopathic generalized 610.4
11temporal lobe epilepsy10.3
12visual epilepsy10.3
13epilepsy, juvenile myoclonic 610.3
14extratemporal epilepsy10.2
15myoclonus epilepsy10.2
16myoclonus10.2
17epilepsy, idiopathic generalized, suscpetibility to, 1210.2
18epilepsy, idiopathic generalized 910.2
19epilepsy, idiopathic generalized 1110.2
20epilepsy, idiopathic generalized 310.2
21epilepsy, idiopathic generalized 510.2
22epilepsy, idiopathic generalized 410.2
23epilepsy, idiopathic generalized 710.2
24jeavons syndrome10.2
25episodic ataxia10.1
26obsessive-compulsive disorder10.1
27adult syndrome10.1
28n syndrome10.1
29apraxia10.1
30myoclonic astatic epilepsy10.1
31mental retardation epilepsy10.1
32epilepsy, childhood absence, susceptibility to, 210.1
33mental retardation10.1
34ataxia10.1
35epilepsy, generalized, with febrile seizures plus, type 510.1
36epilepsy, idiopathic generalized, 1010.1
37epilepsy, juvenile myoclonic 810.1
38epilepsy, juvenile myoclonic 510.1
39epilepsy, idiopathic generalized 210.1
40epilepsy, generalized, with febrile seizures plus, type 410.0
41epilepsy, generalized, with febrile seizures plus, type 210.0
42epilepsy, generalized, with febrile seizures plus, type 710.0
43epilepsy, generalized, with febrile seizures plus, type 310.0
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
50benign familial neonatal-infantile seizures10.0SCN1B, GABRG2, CHRNA4

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



Diseases related to idiopathic generalized epilepsy

Clinical Features for Idiopathic Generalized Epilepsy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

600669

Clinical synopsis from OMIM:

600669

Drugs & Therapeutics for Idiopathic Generalized Epilepsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Idiopathic Generalized Epilepsy:

id Genetic test Affiliating Genes
1 Idiopathic Generalized Epilepsy22

Anatomical Context for Idiopathic Generalized Epilepsy

Animal Models for Idiopathic Generalized Epilepsy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Idiopathic Generalized Epilepsy:

37
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

Sources:
51PubMed
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Articles related to Idiopathic Generalized Epilepsy:

(show top 50)    (show all 237)
idTitleAuthorsYear
1
Genetic variants of synaptic vesicle and presynaptic plasma membrane proteins in idiopathic generalized epilepsy. (24164654)
2014
2
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. (23350840)
2013
3
Neuropsychological and psychiatric outcomes in poorly controlled idiopathic generalized epilepsy. (23832134)
2013
4
Volumetric and shape analysis of thalamus in idiopathic generalized epilepsy. (23512576)
2013
5
The electroencephalogram of idiopathic generalized epilepsy. (22150583)
2012
6
Myoclonus precipitated by oral suspension of oxcarbazepine in idiopathic generalized epilepsy. (22456301)
2012
7
Resting-state connectivity of the sustained attention network correlates with disease duration in idiopathic generalized epilepsy. (23227168)
2012
8
Dynamics of frequency flow in epileptic brain during extra-temporal partial and idiopathic generalized epilepsy. (22100146)
2012
9
Altered functional-structural coupling of large-scale brain networks in idiopathic generalized epilepsy. (21975588)
2011
10
Contrast gain control abnormalities in idiopathic generalized epilepsy. (21710621)
2011
11
Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (20141545)
2010
12
Idiopathic generalized epilepsy with generalized tonic-clonic seizures (IGE-GTC): a population-based cohort with >20 year follow up for medical and social outcome. (20471324)
2010
13
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. (20037607)
2010
14
Cerebellum abnormalities in idiopathic generalized epilepsy with generalized tonic-clonic seizures revealed by diffusion tensor imaging. (21203575)
2010
15
The use of computer-assisted-telephone-interviewing to diagnose seizures, epilepsy and idiopathic generalized epilepsy. (20656458)
2010
16
CLCN2 variants in idiopathic generalized epilepsy. (19710712)
2009
17
Wicket spikes misinterpreted as focal abnormalities in idiopathic generalized epilepsy with prescription of carbamazepine leading to paradoxical aggravation. (19716464)
2009
18
Automatisms in absence seizures in children with idiopathic generalized epilepsy. (19506132)
2009
19
Suicide attempts in adult patients with idiopathic generalized epilepsy. (19335392)
2009
20
Fourteen-year follow-up in a teenager with congenital long QT syndrome masquerading as idiopathic generalized epilepsy. (19429740)
2009
21
Psychiatric comorbidity in adult patients with idiopathic generalized epilepsy. (18353731)
2008
22
Valproate selectively reduces EEG activity in anterior parts of the cortex in patients with idiopathic generalized epilepsy. A low resolution electromagnetic tomography (LORETA) study. (17624734)
2007
23
Memory consolidation and accelerated forgetting in children with idiopathic generalized epilepsy. (17715001)
2007
24
An association between type 1 diabetes and idiopathic generalized epilepsy. (16566023)
2006
25
Video-EEG recordings in idiopathic generalized epilepsy, including juvenile myoclonic epilepsy. (16529645)
2006
26
Management guidelines for children with idiopathic generalized epilepsy. (16302884)
2005
27
Authors' voluntary retraction: H. Wilkie, A. Osei-Lah, B. Chioza, L. Nashef, D. McCormick, P. Asherson, and A.J. Makoff: Association of the mu-opioid receptor subunit gene and idiopathic generalized epilepsy. Neurology 2002;59:724-728. (15699410)
2005
28
Clinical experience with levetiracetam in idiopathic generalized epilepsy according to different syndrome subtypes. (16162433)
2005
29
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. (15852375)
2005
30
The coexistence of idiopathic generalized epilepsy and partial epilepsy. (15144435)
2004
31
Stiff Goats, Chloride Ions, and Idiopathic Generalized Epilepsy (IGE). (15309062)
2003
32
Entorhinal cortex MRI assessment in temporal, extratemporal, and idiopathic generalized epilepsy. (12887438)
2003
33
EEG in adult-onset idiopathic generalized epilepsy. (12558583)
2003
34
From molecules to networks: cortical/subcortical interactions in the pathophysiology of idiopathic generalized epilepsy. (12752456)
2003
35
Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy. (12221164)
2002
36
EEG discharges on awakening: a marker of idiopathic generalized epilepsy. (11148252)
2001
37
Preponderance of female sex in the transmission of seizure liability in idiopathic generalized epilepsy. (11164699)
2001
38
Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy. (10759301)
2000
39
The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy. (10976944)
2000
40
Adult myoclonic epilepsy: a distinct syndrome of idiopathic generalized epilepsy. (11061264)
2000
41
No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy. (10996506)
2000
42
Idiopathic generalized epilepsy presenting with hemiconvulsive seizures. (11114223)
2000
43
Central benzodiazepine/gamma-aminobutyric acid A receptors in idiopathic generalized epilepsy: an [11C]flumazenil positron emission tomography study. (9579955)
1997
44
Wavelength specificity of photoparoxysmal responses in idiopathic generalized epilepsy. (7588452)
1995
45
Mapping of genes predisposing to idiopathic generalized epilepsy. (8528209)
1995
46
Benzodiazepine-GABAA receptors in idiopathic generalized epilepsy measured with [11C]flumazenil and positron emission tomography. (7821267)
1995
47
Plasma amino acid alterations in idiopathic generalized epilepsy: an investigation in probands and their first-degree relatives. (8056560)
1994
48
Determinants of IQ profile in children with idiopathic generalized epilepsy. (1464272)
1992
49
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. (1922810)
1991
50
Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy. (2121470)
1990

Genetic Variations for Idiopathic Generalized Epilepsy

Expression for genes affiliated with Idiopathic Generalized Epilepsy

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

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

Pathways for genes affiliated with Idiopathic Generalized Epilepsy

Sources:
54Reactome, 12EMD Millipore, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Idiopathic Generalized Epilepsy

Sources:
60Tocris Bioscience, 11DrugBank, 29IUPHAR, 45Novoseek, 24HMDB, 50PharmGKB
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Compounds related to Idiopathic Generalized Epilepsy according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1p10756010.8KCNJ9, KCNJ10
2levcromakalim6010.8KCNJ9, KCNJ10
3tertiapin-q6010.8KCNJ9, KCNJ10
4Cinolazepam1110.8GABRG2, GABRD
5Halazepam1110.7GABRG2, GABRD
6Fludiazepam1110.7GABRG2, GABRD
7(+)-bicuculline6010.7GABRD, GABRG2
8(-)-bicuculline methochloride6010.7GABRD, GABRG2
9(-)-bicuculline methiodide6010.7GABRD, GABRG2
10sr 95531 hydrobromide6010.7GABRD, GABRG2
11zn2+2910.7ZACN, CLCN2
12Prazepam1110.7GABRD, GABRG2
13estazolam45 1111.7GABRG2, GABRD
14Adinazolam1110.7GABRG2, GABRD
15quazepam45 1111.7GABRG2, GABRD
16chlorine45 2411.7GABRD, GABRG2, HCN2, CLCN2
17Clotiazepam1110.7GABRD, GABRG2
18Clorazepate1110.7GABRG2, GABRD
19bromazepam45 1111.6GABRD, GABRG2
20nitrazepam45 1111.6GABRD, GABRG2
21Temazepam1110.6GABRD, GABRG2
22lorazepam45 50 1112.6GABRD, GABRG2
23sodium45 2411.6SCN1B, GABRG2, ZACN, CHRNA4, HCN2, CLCN2
24flurazepam45 1111.6GABRD, GABRG2
25oxazepam50 1111.6GABRD, GABRG2
26clobazam45 50 1112.5GABRD, GABRG2
27potassium45 11 2412.5HCN2, KCNJ9, KCNMB3, SCN1B, GABRG2, ZACN
28chlordiazepoxide45 1111.5GABRD, GABRG2
29tbps45 2911.4GABRD, GABRG2
30clonazepam45 1111.4GABRD, GABRG2
31alprazolam45 1111.4GABRG2, GABRD
32muscimol45 60 2912.3GABRG2, GABRD
33triazolam45 1111.1GABRG2, GABRD

GO Terms for genes affiliated with Idiopathic Generalized Epilepsy

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet