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
Genetic variants of synaptic vesicle and presynaptic plasma membrane proteins in idiopathic generalized epilepsy. (24164654)
2014
2
Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy. (24024466)
2013
3
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. (23294455)
2013
4
Accelerated long-term forgetting in children with idiopathic generalized epilepsy. (23061735)
2012
5
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. (22282645)
2012
6
White matter microstructural changes of thalamocortical networks in photosensitivity and idiopathic generalized epilepsy. (22360784)
2012
7
Impairments of thalamic nuclei in idiopathic generalized epilepsy revealed by a study combining morphological and functional connectivity MRI. (22808050)
2012
8
The prevention of behavioral consequences of idiopathic generalized epilepsy: evidence from rodent models. (21354267)
2011
9
Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. (22056632)
2011
10
Thalamofrontal neurodevelopment in new-onset pediatric idiopathic generalized epilepsy. (21205692)
2011
11
Magnetic resonance spectroscopy findings in photosensitive idiopathic generalized epilepsy. (20307015)
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
Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences. (19469842)
2009
14
Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. (19264587)
2009
15
A comparative study of obsessive-compulsive disorder and other psychiatric comorbidities in patients with temporal lobe epilepsy and idiopathic generalized epilepsy. (19435590)
2009
16
Levetiracetam as add-on therapy for idiopathic generalized epilepsy syndromes with onset during adolescence: analysis of two randomized, double-blind, placebo-controlled studies. (19327967)
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
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. (19191339)
2009
21
Imaging the cortical effect of lamotrigine in patients with idiopathic generalized epilepsy: a low-resolution electromagnetic tomography (LORETA) study. (18650067)
2008
22
Cerebral blood flow abnormality in patients with idiopathic generalized epilepsy. (18283401)
2008
23
Absence status epilepsy: delineation of a distinct idiopathic generalized epilepsy syndrome. (18093147)
2008
24
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits. (17385675)
2007
25
Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. (17215107)
2007
26
Coexistence of focal and idiopathic generalized epilepsy in the same patient population. (16352448)
2006
27
No association of single nucleotide polymorphisms in the micro-opioid receptor subunit gene with idiopathic generalized epilepsy. (17054695)
2006
28
EEG features in idiopathic generalized epilepsy: clues to diagnosis. (16922891)
2006
29
An association between type 1 diabetes and idiopathic generalized epilepsy. (16374819)
2006
30
Genetics of idiopathic generalized epilepsies. (16302872)
2005
31
Polygenic control of idiopathic generalized epilepsy phenotypes in the genetic absence rats from Strasbourg (GAERS). (15030491)
2004
32
Thalamic Dysfunction in Idiopathic Generalized Epilepsy: New Findings of Old News. (15562305)
2004
33
Linguistic processing in idiopathic generalized epilepsy: an auditory event-related potential study. (12919393)
2003
34
Exploring new gene discoveries in idiopathic generalized epilepsy. (12752457)
2003
35
Idiopathic generalized epilepsy and choice of antiepileptic drugs. (14694051)
2003
36
Idiopathic Generalized Epilepsy is Not Restricted To Young Patients. (15309054)
2003
37
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. (12399075)
2002
38
Idiopathic generalized epilepsy with generalized and other seizures in adolescence. (11442147)
2001
39
Preponderance of female sex in the transmission of seizure liability in idiopathic generalized epilepsy. (11164699)
2001
40
Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. (11261507)
2001
41
Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy. (11325574)
2001
42
Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. (10402495)
1999
43
Tiagabine-induced absence status in idiopathic generalized epilepsy. (10486298)
1999
44
Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. (10514826)
1999
45
Primary (idiopathic) generalized epilepsy and underlying mechanisms. (8719497)
1996
46
Low rate of depressive symptomatology in patient with idiopathic generalized epilepsy. (8612172)
1995
47
Idiopathic generalized epilepsy of adolescence: are the syndromes clinically distinct? (7644043)
1995
48
Mapping of genes predisposing to idiopathic generalized epilepsy. (8528209)
1995
49
Idiopathic generalized epilepsy: magnetic stimulation of motor cortex time-locked and unlocked to 3-Hz spike-and-wave discharges. (8112258)
1994
50
Plasma amino acid alterations in idiopathic generalized epilepsy: an investigation in probands and their first-degree relatives. (8056560)
1994

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