JAE
MCID: JVN007
MIFTS: 51

Juvenile Absence Epilepsy (JAE) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Juvenile Absence Epilepsy

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.

MalaCards: Juvenile Absence Epilepsy, also known as epilepsy juvenile absence, is related to childhood absence epilepsy and juvenile myoclonic epilepsy. An important gene associated with Juvenile Absence Epilepsy is EFHC1 (EF-hand domain (C-terminal) containing 1), and among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and Hepatic ABC Transporters. The drugs sodium valproate and valproic acid and the compounds flumazenil and zn2+ have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and normal.

Wikipedia:66 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic... more...

Aliases & Classifications for Juvenile Absence Epilepsy

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44NIH Rare Diseases, 9Disease Ontology, 11DISEASES, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

juvenile absence epilepsy 9 44 11
epilepsy juvenile absence 44 23 63
childhood absence epilepsy 44
jae 44


External Ids:

Disease Ontology9 DOID:0060172

Related Diseases for Juvenile Absence Epilepsy

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18GeneCards, 19GeneDecks
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Diseases in the Juvenile Absence Epilepsy family:

Early Onset Absence Epilepsy Epilepsy, Juvenile Absence, Susceptibility to, 1
Epilepsy, Juvenile Absence, Susceptibility to, 2

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1childhood absence epilepsy31.5CACNA1H, GRIK1, GABRG2, GABRA1, KCNK9, GABRB3
2juvenile myoclonic epilepsy30.6EFHC1, GABRA1, GABRG2
3idiopathic generalized epilepsy30.2EFHC1, GABRG2
4epilepsy, childhood absence, susceptibility to, 210.4
5epilepsy, juvenile absence, susceptibility to, 210.4
6febrile seizures10.3
7neuronitis10.2
8epilepsy, juvenile myoclonic 510.2
9epilepsy, idiopathic generalized 610.2
10succinic semialdehyde dehydrogenase deficiency10.1
11epilepsy, juvenile absence, susceptibility to, 110.1
12epilepsy, generalized, with febrile seizures plus, type 510.1
13epilepsy, juvenile myoclonic 810.1
14frontal lobe epilepsy10.1
15periventricular nodular heterotopia10.1
16west syndrome10.1
17parkinson's disease10.1
18megaloblastic anemia due to dihydrofolate reductase deficiency10.1
19myoclonus epilepsy10.1
20myoclonus10.1
21glut1 deficiency syndrome 210.1
22epilepsy, generalized, with febrile seizures plus, type 310.1
23blindness10.1
24dravet syndrome10.1GABRG2
25epilepsy with generalized tonic-clonic seizures10.1EFHC1, CHRNB3
26temporal lobe epilepsy10.0GRIK1, GRIK2
27schizophrenia10.0GRIK2, GRIK1, GABRG2
28autistic disorder9.9GRIK1, GABRB3
29epilepsy syndrome9.8GRIK2, CLCN2, ALDH5A1, GRIK1, GABRG2, GABRA1

Graphical network of the top 20 diseases related to Juvenile Absence Epilepsy:



Diseases related to juvenile absence epilepsy

Symptoms for Juvenile Absence Epilepsy

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Drugs & Therapeutics for Juvenile Absence Epilepsy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Juvenile Absence Epilepsy

Drug clinical trials:

Search ClinicalTrials for Juvenile Absence Epilepsy

Search NIH Clinical Center for Juvenile Absence Epilepsy

Search CenterWatch for Juvenile Absence Epilepsy

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Juvenile Absence Epilepsy

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23GTR
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Genetic tests related to Juvenile Absence Epilepsy:

id Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence23

Anatomical Context for Juvenile Absence Epilepsy

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Animal Models for Juvenile Absence Epilepsy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2CACNG3, KCNK9, CLCN2, GABRA1, GABRG2, ALDH5A1
2MP:00028737.4KCNK9, GABRB3, CACNG3, GRIK1, GABRG2, GABRA1
3MP:00053786.4GABRB3, CACNG3, CACNA1H, ALDH5A1, GRIK1, GRIK2
4MP:00053866.2GABRA1, GABRG2, GRIK2, GRIK1, CACNG3, CHRNB3
5MP:00036315.6KCNK9, GABRB3, GABRA1, GABRG2, GRIK2, GRIK1

Publications for Juvenile Absence Epilepsy

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53PubMed
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Articles related to Juvenile Absence Epilepsy:

(show all 13)
idTitleAuthorsYear
1
The double generalization phenomenon in juvenile absence epilepsy. (21571594)
2011
2
Long term prognosis of juvenile absence epilepsy. (21163225)
2011
3
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures. (21320115)
2011
4
Temporal intermittent I' activity: a marker of juvenile absence epilepsy? (21044851)
2011
5
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. (20061122)
2010
6
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. (19616977)
2010
7
Juvenile absence epilepsy exacerbated by valproic acid. (17275666)
2007
8
Outcome of children with juvenile absence epilepsy. (16970883)
2006
9
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. (15582027)
2004
10
Long-term prognosis for childhood and juvenile absence epilepsy. (15503104)
2004
11
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. (11920863)
2002
12
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. (9259378)
1997
13
Clinical and genetic aspects of juvenile absence epilepsy. (7964917)
1994

Variations for Juvenile Absence Epilepsy

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Expression for genes affiliated with Juvenile Absence Epilepsy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Juvenile Absence Epilepsy

Search GEO for disease gene expression data for Juvenile Absence Epilepsy.

Pathways for genes affiliated with Juvenile Absence Epilepsy

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51PathCards, 52PharmGKB, 56Reactome, 54QIAGEN, 13EMD Millipore, 55R&D Systems, 31KEGG, 62Tocris Bioscience, 39NCBI BioSystems Database
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Pathways related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8GABRA1, GABRG2
2
Show member pathways
9.7KCNK9, CLCN2
39.7CHRNB3, CACNA1H
4
Show member pathways
9.4CACNG3, CACNA1H
5
Show member pathways
9.2GRIK2, GRIK1
6
Show member pathways
9.1GABRA1, GABRB3, GABRG2
7
Show member pathways
9.1GABRA1, GABRG2, GABRB3
89.1GABRA1, GABRG2, GABRB3
9
Show member pathways
9.1GABRB3, GABRG2, GABRA1
10
Show member pathways
9.1GABRG2, GABRA1, GABRB3
11
Show member pathways
8.8GABRA1, GABRG2, CLCN2, GABRB3
12
Show member pathways
8.8GABRB3, GABRA1, GABRG2, CLCN2
13
Show member pathways
8.7KCNK9, CLCN2, CACNG3, CACNA1H
14
Show member pathways
8.2CACNG3, GRIK2, GRIK1, CACNA1H
15
Show member pathways
7.7GABRA1, KCNK9, CACNG3, CACNA1H, GABRG2, GABRB3
16
Show member pathways
7.6GABRA1, GABRG2, GABRB3, GRIK2, GRIK1, CHRNB3
17
Show member pathways
7.3CACNA1H, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
18
Show member pathways
6.3GRIK2, KCNK9, CHRNB3, CACNG3, GRIK1, GABRB3

Compounds for genes affiliated with Juvenile Absence Epilepsy

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30IUPHAR, 46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1flumazenil30 46 1212.0GABRG2, GABRA1
2zn2+3010.0CLCN2, GABRA1
3topiramate46 52 25 1212.8GRIK1, GABRA1
4halothane46 52 30 1212.7KCNK9, GABRA1
5(-)-bicuculline methochloride629.6GABRB3, GABRA1, GABRG2
6ly38288446 3010.6GRIK1, GRIK2
7sr 95531 hydrobromide629.6GABRG2, GABRB3, GABRA1
8concanavalin a309.6GRIK1, GRIK2
9(-)-bicuculline methiodide629.6GABRG2, GABRB3, GABRA1
10amobarbital46 1210.6GRIK2, GABRA1
11(+)-bicuculline629.6GABRA1, GABRG2, GABRB3
122,4-epi-neodysiherbaine309.6GRIK2, GRIK1
13estazolam46 1210.6GABRA1, GABRG2, GABRB3
14quazepam46 1210.6GABRG2, GABRB3, GABRA1
15nitrazepam46 1210.6GABRG2, GABRB3, GABRA1
16bromazepam46 1210.6GABRG2, GABRA1, GABRB3
17flurazepam46 1210.6GABRA1, GABRG2, GABRB3
18lorazepam46 52 1211.6GABRG2, GABRB3, GABRA1
19oxazepam52 1210.6GABRA1, GABRG2, GABRB3
20kainic acid629.6GRIK1, GRIK2
21chlordiazepoxide46 1210.6GABRA1, GABRG2, GABRB3
22clonazepam46 1210.5GABRG2, GABRB3, GABRA1
23[3h]kainate309.5GRIK1, GRIK2
24tbps46 3010.5GABRB3, GABRA1, GABRG2
25muscimol46 62 3011.5GABRG2, GABRB3, GABRA1
26dysiherbaine309.5GRIK1, GRIK2
27triazolam46 1210.5GABRG2, GABRB3, GABRA1
28clobazam46 52 1211.5GABRG2, GABRB3, GABRA1
29ubp 302629.5GRIK1, GRIK2
30alprazolam46 1210.5GABRA1, GABRG2, GABRB3
31domoic acid62 30 1211.5GRIK2, GRIK1
32Gamma-Aminobutyric acid259.5GABRG2, GABRA1, GABRB3
33acet62 3010.5GRIK1, GRIK2
34picrotoxin46 30 1211.5GABRA1, GABRB3
35primidone46 1210.5GRIK2, GABRA1
36ly29355846 3010.5GRIK2, GRIK1
37midazolam46 52 1211.5GABRA1, GABRB3, GABRG2
38diazepam46 30 52 1212.5GABRB3, GABRA1, GABRG2
39sym2081309.5GRIK1, GRIK2
40[3h](2s,4r)-4-methylglutamate309.5GRIK2, GRIK1
41hexobarbital46 1210.5GABRA1, GRIK2
42cyclothiazide46 30 1211.5GRIK2, GRIK1
43cnqx46 6210.4GRIK2, GRIK1
44thiopental46 1210.4GRIK2, GABRA1
45pentobarbital46 1210.4GRIK2, GABRA1
46chlorine46 2510.2GABRA1, GABRB3, CLCN2, GABRG2
47anandamide62 46 30 2512.2KCNK9, CACNA1H
48glutamate468.4KCNK9, GRIK2, GRIK1, ALDH5A1
49gaba468.0GABRG2, GRIK1, GABRA1, ALDH5A1, GRIK2, GABRB3
50calcium46 52 25 1210.6GRIK1, KCNK9, ALDH5A1, CACNG3, CACNA1H, EFHC1

GO Terms for genes affiliated with Juvenile Absence Epilepsy

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17Gene Ontology
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Cellular components related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1kainate selective glutamate receptor complexGO:0329839.2GRIK2, GRIK1
2presynaptic membraneGO:0427349.2GRIK2, GRIK1
3voltage-gated calcium channel complexGO:0058919.1CACNA1H, CACNG3
4chloride channel complexGO:0347078.9CLCN2, GABRG2, GABRA1, GABRB3
5integral component of plasma membraneGO:0058877.8GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
6postsynaptic membraneGO:0452117.7GABRB3, GABRA1, GABRG2, GRIK2, GRIK1, CHRNB3
7cell junctionGO:0300547.7CHRNB3, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
8plasma membraneGO:0058866.4KCNK9, CLCN2, CHRNB3, CACNG3, GRIK1, GRIK2

Biological processes related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:05193210.0GABRA1, GABRG2
2gamma-aminobutyric acid signaling pathwayGO:0072149.9GABRG2, GABRA1
3post-embryonic developmentGO:0097919.8GABRG2, ALDH5A1
4cochlea developmentGO:0901029.6GABRB3, KCNK9
5adult behaviorGO:0305349.5GRIK1, GABRG2
6regulation of inhibitory postsynaptic membrane potentialGO:0600809.4GRIK2, GRIK1
7negative regulation of synaptic transmission, glutamatergicGO:0519679.4GRIK1, GRIK2
8glutamate receptor signaling pathwayGO:0072159.4GRIK2, GRIK1
9ionotropic glutamate receptor signaling pathwayGO:0352359.3GRIK2, GRIK1
10regulation of excitatory postsynaptic membrane potentialGO:0600799.2GRIK1, GRIK2
11synaptic transmission, glutamatergicGO:0352498.9GRIK2, GRIK1
12transmembrane transportGO:0550858.8CLCN2, CHRNB3, GABRG2, GABRA1, GABRB3
13ion transmembrane transportGO:0342207.8CLCN2, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
14transportGO:0068107.0CLCN2, CHRNB3, CACNA1H, GRIK1, GRIK2, GABRG2
15synaptic transmissionGO:0072686.6GABRB3, KCNK9, CHRNB3, CACNG3, ALDH5A1, GRIK1

Molecular functions related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1drug bindingGO:0081449.8GABRA1, CHRNB3
2GABA-A receptor activityGO:0048909.2GABRB3, GABRA1, GABRG2
3extracellular ligand-gated ion channel activityGO:0052309.2GABRB3, GABRA1, GABRG2
4chloride channel activityGO:0052549.1GABRG2, GABRA1, GABRB3
5kainate selective glutamate receptor activityGO:0152779.1GRIK2, GRIK1
6extracellular-glutamate-gated ion channel activityGO:0052348.9GRIK2, GRIK1

Products for genes affiliated with Juvenile Absence Epilepsy

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Sources for Juvenile Absence Epilepsy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet