MCID: IDP010
MIFTS: 60

Idiopathic Generalized Epilepsy malady

Genetic diseases (common), Neuronal diseases categories
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Summaries for Idiopathic Generalized Epilepsy

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Disease Ontology:8 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.

MalaCards based summary: Idiopathic Generalized Epilepsy, also known as epilepsy, idiopathic generalized, is related to focal epilepsy and epilepsy syndrome, and has symptoms including An important gene associated with Idiopathic Generalized Epilepsy is ME2 (malic enzyme 2, NAD(+)-dependent, mitochondrial), and among its related pathways are GABA receptor activation and Potassium transporters inward current. The compounds p1075 and levcromakalim have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Wikipedia:65 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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Sources:
8Disease Ontology, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH
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Idiopathic Generalized Epilepsy, Aliases & Descriptions:

Name: Idiopathic Generalized Epilepsy 8 22 10 62
Epilepsy, Idiopathic Generalized 46 44
 
Epilepsy, Generalized 62
Generalised Epilepsy 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:1827
NCIt39 C3021
MeSH34 D004829

Related Diseases for Idiopathic Generalized Epilepsy

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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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1focal epilepsy30.3SCN1B
2epilepsy syndrome30.2SCN1B, CLCN2, CACNB4, ZACN
3juvenile myoclonic epilepsy10.6
4epilepsy with generalized tonic-clonic seizures10.5
5neuronitis10.5
6status epilepticus10.4
7epilepsy, idiopathic generalized, susceptibility to, 810.4
8temporal lobe epilepsy10.3
9childhood absence epilepsy10.3
10cerebritis10.3
1115q13.3 microdeletion10.3
12myoclonus10.3
13epilepsy, idiopathic generalized, 1010.3
14epilepsy, idiopathic generalized, suscpetibility to, 1210.3
15epilepsy, juvenile myoclonic 610.3
16epilepsy, idiopathic generalized 910.3
17epilepsy, idiopathic generalized 1110.3
18epilepsy, juvenile myoclonic 510.3
19epilepsy, idiopathic generalized 110.3
20epilepsy, idiopathic generalized 310.3
21epilepsy, idiopathic generalized 510.3
22epilepsy, idiopathic generalized 410.3
23epilepsy, idiopathic generalized 210.3
24epilepsy, idiopathic generalized 710.3
25epilepsy, idiopathic generalized 610.3
26jeavons syndrome10.3
27schizophrenia10.1
28episodic ataxia10.1
29obsessive-compulsive disorder10.1
30generalized epilepsy with febrile seizures plus10.1
31juvenile absence epilepsy10.1
32frontal lobe epilepsy10.1
33apraxia10.1
34long qt syndrome10.1
35myoclonic astatic epilepsy10.1
36myoclonus epilepsy10.1
37photosensitive epilepsy10.1
38epilepsy, childhood absence, susceptibility to, 210.1
39mental retardation10.1
40ataxia10.1
41febrile seizures10.1
42epilepsy, generalized, with febrile seizures plus, type 510.1
43epilepsy, juvenile myoclonic 810.1
44blindness10.1
45perioral myoclonia with absences10.1
46insulinoma10.1
47primary ciliary dyskinesia10.1
48porphyria cutanea tarda10.1
49porphyria10.1
50dravet syndrome9.8GABRD, SCN1B

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



Diseases related to idiopathic generalized epilepsy

Symptoms for Idiopathic Generalized Epilepsy

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Symptoms by clinical synopsis from OMIM:

600669

Clinical features from OMIM:

600669

HPO human phenotypes related to Idiopathic Generalized Epilepsy:

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 Idiopathic Generalized Epilepsy

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Drug clinical trials:

Search ClinicalTrials for Idiopathic Generalized Epilepsy

Search NIH Clinical Center for Idiopathic Generalized Epilepsy

Genetic Tests for Idiopathic Generalized Epilepsy

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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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MalaCards organs/tissues related to Idiopathic Generalized Epilepsy:

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

Animal Models for Idiopathic Generalized Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Idiopathic Generalized Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3GABRD, CACNB4, KCNJ10
2MP:00053918.8CACNB4, KCNJ10, SCN1B, CLCN2
3MP:00107687.5GABRD, CACNB4, SCN1B, KCNJ9, KCNJ10, ARC
4MP:00053867.4ARC, CACNB4, CLCN2, SCN1B, KCNJ9, KCNJ10
5MP:00036317.4GABRD, CACNB4, CLCN2, SCN1B, KCNJ9, ARC

Publications for Idiopathic Generalized Epilepsy

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Articles related to Idiopathic Generalized Epilepsy:

(show top 50)    (show all 269)
idTitleAuthorsYear
1
Investigation of glutamine and GABA levels in patients with idiopathic generalized epilepsy using MEGAPRESS. (24585443)
2014
2
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. (23350840)
2013
3
Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India. (23956556)
2013
4
Neuropsychological and psychiatric outcomes in poorly controlled idiopathic generalized epilepsy. (23832134)
2013
5
Accelerated long-term forgetting in children with idiopathic generalized epilepsy. (23061735)
2012
6
The electroencephalogram of idiopathic generalized epilepsy. (22150583)
2012
7
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. (23280796)
2012
8
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
9
GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy. (21887291)
2011
10
EEG functional connectivity of the intrahemispheric cortico-cortical network of idiopathic generalized epilepsy. (21601428)
2011
11
Altered functional-structural coupling of large-scale brain networks in idiopathic generalized epilepsy. (21975588)
2011
12
Distinct white matter abnormalities in different idiopathic generalized epilepsy syndromes. (22092238)
2011
13
Executive functions in adolescents with idiopathic generalized epilepsy. (21968883)
2011
14
The effective and ethical use of voluntary induction of psychogenic drop attacks in a patient with idiopathic generalized epilepsy. (20236869)
2010
15
Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (20141545)
2010
16
Valproate in children with newly diagnosed idiopathic generalized epilepsy. (20055770)
2010
17
Magnetic resonance spectroscopy findings in photosensitive idiopathic generalized epilepsy. (20307015)
2010
18
CLCN2 variants in idiopathic generalized epilepsy. (19710712)
2009
19
Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences. (19469842)
2009
20
EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state. (19243419)
2009
21
Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy. (19264587)
2009
22
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits. (17385675)
2007
23
Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. (17215107)
2007
24
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. (17696120)
2007
25
Is vagus nerve stimulation a treatment option for patients with drug-resistant idiopathic generalized epilepsy? (17419830)
2007
26
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. (17159113)
2006
27
Coexistence of focal and idiopathic generalized epilepsy in the same patient population. (16352448)
2006
28
EEG features in idiopathic generalized epilepsy: clues to diagnosis. (16529616)
2006
29
Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. (15532013)
2005
30
Tonic status epilepticus in patients with idiopathic generalized epilepsy. (16338675)
2005
31
Management guidelines for children with idiopathic generalized epilepsy. (16302884)
2005
32
Imaging idiopathic generalized epilepsy. (15493530)
2004
33
Polygenic control of idiopathic generalized epilepsy phenotypes in the genetic absence rats from Strasbourg (GAERS). (15030491)
2004
34
Thalamic Dysfunction in Idiopathic Generalized Epilepsy: New Findings of Old News. (15562305)
2004
35
Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12. (12581227)
2003
36
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. (12612585)
2003
37
Linguistic processing in idiopathic generalized epilepsy: an auditory event-related potential study. (12919393)
2003
38
Epilepsy in offspring of whom both parents have idiopathic generalized epilepsy: biparental inheritance. (12919400)
2003
39
Exploring new gene discoveries in idiopathic generalized epilepsy. (12752457)
2003
40
EEG discharges on awakening: a marker of idiopathic generalized epilepsy. (11148252)
2001
41
Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy. (10759301)
2000
42
The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy. (10976944)
2000
43
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
44
Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes. (9762955)
1998
45
Primary (idiopathic) generalized epilepsy and underlying mechanisms. (8719497)
1996
46
Wavelength specificity of photoparoxysmal responses in idiopathic generalized epilepsy. (7588452)
1995
47
Disturbance of visual information processing in temporal lobe epilepsy: in comparison with idiopathic generalized epilepsy. (8271589)
1993
48
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
49
Distinctive characteristics of frontal lobe epilepsy versus idiopathic generalized epilepsy. (1543069)
1992
50
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. (1922810)
1991

Variations for Idiopathic Generalized Epilepsy

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Expression for genes affiliated with Idiopathic Generalized Epilepsy

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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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Pathways related to Idiopathic Generalized Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6KCNJ9, KCNJ10
29.6KCNJ10, KCNJ9
3
Show member pathways
9.6KCNJ9, KCNJ10
49.2KCNJ10, KCNJ9, CACNB4
5
Show member pathways
9.2CACNB4, CLCN2, SCN1B
6
Show member pathways
9.0CACNB4, SCN1B, KCNJ9
7
Show member pathways
8.7KCNJ10, KCNJ9, KCNMB3
8
Show member pathways
8.7CACNB4, KCNMB3, KCNJ9
9
Show member pathways
8.4CACNB4, KCNMB3, KCNJ9, KCNJ10

Compounds for genes affiliated with Idiopathic Generalized Epilepsy

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Compounds related to Idiopathic Generalized Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1p1075619.8KCNJ10, KCNJ9
2levcromakalim619.7KCNJ10, KCNJ9
3zn2+289.7ZACN, CLCN2
4tertiapin-q619.7KCNJ10, KCNJ9
5diazoxide44 61 28 1112.6KCNJ10, KCNJ9
6glibenclamide44 28 50 6112.6KCNJ9, KCNJ10
7magnesium44 24 1111.3ME2, KCNJ9, KCNJ10
8chlorine44 2410.2GABRD, CLCN2
9sodium44 2410.0SCN1B, CLCN2, ZACN
10potassium44 24 1110.3ZACN, SCN1B, KCNMB3, KCNJ9

GO Terms for genes affiliated with Idiopathic Generalized Epilepsy

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347079.5GABRD, CLCN2
2plasma membraneGO:0058866.9ARC, ZACN, CACNB4, CLCN2, KCNMB3, KCNJ9

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

idNameGO IDScoreTop Affiliating Genes
1adult walking behaviorGO:0076289.8CACNB4, KCNJ10
2neuronal action potential propagationGO:0192279.7CACNB4, SCN1B
3membrane depolarizationGO:0518999.6SCN1B, CACNB4
4potassium ion transportGO:0068139.4KCNMB3, KCNJ10
5transportGO:0068108.9GABRD, CACNB4, CLCN2
6synaptic transmissionGO:0072687.5GABRD, CACNB4, SCN1B, KCNMB3, KCNJ9, KCNJ10

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

idNameGO IDScoreTop Affiliating Genes
1extracellular ligand-gated ion channel activityGO:0052309.5ZACN, 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet