JAE
MCID: JVN007
MIFTS: 51

Juvenile Absence Epilepsy (JAE) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Juvenile Absence Epilepsy

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8Disease Ontology, 65Wikipedia, 33MalaCards
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Disease Ontology:8 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:65 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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43NIH Rare Diseases, 8Disease Ontology, 10DISEASES, 22GTR, 62UMLS
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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 8 43 10
epilepsy juvenile absence 43 22 62
childhood absence epilepsy 43
jae 43


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Disease Ontology8 DOID:0060172

Related Diseases for Juvenile Absence Epilepsy

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Juvenile Absence Epilepsy

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Juvenile Absence Epilepsy

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22GTR
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Genetic tests related to Juvenile Absence Epilepsy:

id Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence22

Anatomical Context for Juvenile Absence Epilepsy

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Animal Models for Juvenile Absence Epilepsy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

37
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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52PubMed
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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, 15Gene 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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50PathCards, 51PharmGKB, 55Reactome, 53QIAGEN, 12EMD Millipore, 54R&D Systems, 30KEGG, 61Tocris Bioscience, 38NCBI 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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29IUPHAR, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1flumazenil29 45 1112.0GABRG2, GABRA1
2zn2+2910.0CLCN2, GABRA1
3topiramate45 51 24 1112.8GRIK1, GABRA1
4halothane45 51 29 1112.7KCNK9, GABRA1
5(-)-bicuculline methochloride619.6GABRB3, GABRA1, GABRG2
6ly38288445 2910.6GRIK1, GRIK2
7sr 95531 hydrobromide619.6GABRG2, GABRB3, GABRA1
8concanavalin a299.6GRIK1, GRIK2
9(-)-bicuculline methiodide619.6GABRG2, GABRB3, GABRA1
10amobarbital45 1110.6GRIK2, GABRA1
11(+)-bicuculline619.6GABRA1, GABRG2, GABRB3
122,4-epi-neodysiherbaine299.6GRIK2, GRIK1
13estazolam45 1110.6GABRA1, GABRG2, GABRB3
14quazepam45 1110.6GABRG2, GABRB3, GABRA1
15nitrazepam45 1110.6GABRG2, GABRB3, GABRA1
16bromazepam45 1110.6GABRG2, GABRA1, GABRB3
17flurazepam45 1110.6GABRA1, GABRG2, GABRB3
18lorazepam45 51 1111.6GABRG2, GABRB3, GABRA1
19oxazepam51 1110.6GABRA1, GABRG2, GABRB3
20kainic acid619.6GRIK1, GRIK2
21chlordiazepoxide45 1110.6GABRA1, GABRG2, GABRB3
22clonazepam45 1110.5GABRG2, GABRB3, GABRA1
23[3h]kainate299.5GRIK1, GRIK2
24tbps45 2910.5GABRB3, GABRA1, GABRG2
25muscimol45 61 2911.5GABRG2, GABRB3, GABRA1
26dysiherbaine299.5GRIK1, GRIK2
27triazolam45 1110.5GABRG2, GABRB3, GABRA1
28clobazam45 51 1111.5GABRG2, GABRB3, GABRA1
29ubp 302619.5GRIK1, GRIK2
30alprazolam45 1110.5GABRA1, GABRG2, GABRB3
31domoic acid61 29 1111.5GRIK2, GRIK1
32Gamma-Aminobutyric acid249.5GABRG2, GABRA1, GABRB3
33acet61 2910.5GRIK1, GRIK2
34picrotoxin45 29 1111.5GABRA1, GABRB3
35primidone45 1110.5GRIK2, GABRA1
36ly29355845 2910.5GRIK2, GRIK1
37midazolam45 51 1111.5GABRA1, GABRB3, GABRG2
38diazepam45 29 51 1112.5GABRB3, GABRA1, GABRG2
39sym2081299.5GRIK1, GRIK2
40[3h](2s,4r)-4-methylglutamate299.5GRIK2, GRIK1
41hexobarbital45 1110.5GABRA1, GRIK2
42cyclothiazide45 29 1111.5GRIK2, GRIK1
43cnqx45 6110.4GRIK2, GRIK1
44thiopental45 1110.4GRIK2, GABRA1
45pentobarbital45 1110.4GRIK2, GABRA1
46chlorine45 2410.2GABRA1, GABRB3, CLCN2, GABRG2
47anandamide61 45 29 2412.2KCNK9, CACNA1H
48glutamate458.4KCNK9, GRIK2, GRIK1, ALDH5A1
49gaba458.0GABRG2, GRIK1, GABRA1, ALDH5A1, GRIK2, GABRB3
50calcium45 51 24 1110.6GRIK1, KCNK9, ALDH5A1, CACNG3, CACNA1H, EFHC1

GO Terms for genes affiliated with Juvenile Absence Epilepsy

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet