JAE
MCID: JVN007
MIFTS: 53

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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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 based summary: Juvenile Absence Epilepsy, also known as epilepsy juvenile absence, is related to juvenile myoclonic epilepsy and childhood absence 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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Juvenile Absence Epilepsy, Aliases & Descriptions:

Name: Juvenile Absence Epilepsy 8 42 10 62
Epilepsy Juvenile Absence 42 22 62
 
Childhood Absence Epilepsy 42 62
Jae 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:0060172

Related Diseases for Juvenile Absence Epilepsy

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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 31)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile myoclonic epilepsy30.8EFHC1, GABRG2, GABRA1
2childhood absence epilepsy30.7KCNK9, CACNA1H, GRIK1, GABRG2, GABRA1, GABRB3
3idiopathic generalized epilepsy30.5GABRG2, EFHC1
4epilepsy, childhood absence, susceptibility to, 210.5
5epilepsy, juvenile absence, susceptibility to, 210.4
6febrile seizures10.3
7dravet syndrome10.3GABRG2
8epilepsy, juvenile absence, susceptibility to, 110.3
9epilepsy with generalized tonic-clonic seizures10.3CHRNB3, EFHC1
10neuronitis10.2
11frontal lobe epilepsy10.2
12benign epilepsy with centrotemporal spikes10.2
13epilepsy, juvenile myoclonic 510.2
14epilepsy, idiopathic generalized 610.2
15succinic semialdehyde dehydrogenase deficiency10.1
16epilepsy, generalized, with febrile seizures plus, type 510.1
17epilepsy, juvenile myoclonic 810.1
18west syndrome10.1
19parkinson's disease10.1
20periventricular nodular heterotopia10.1
21focal epilepsy10.1
22megaloblastic anemia due to dihydrofolate reductase deficiency10.1
23myoclonus epilepsy10.1
24myoclonus10.1
25glut1 deficiency syndrome 210.1
26epilepsy, generalized, with febrile seizures plus, type 310.1
27blindness10.1
28temporal lobe epilepsy10.0GRIK1, GRIK2
29schizophrenia9.9GABRG2, GRIK2, GRIK1
30autistic disorder9.8GABRB3, GRIK1
31epilepsy syndrome9.2CLCN2, ALDH5A1, GRIK1, GRIK2, 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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Drug clinical trials:

Search ClinicalTrials for Juvenile Absence Epilepsy

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Juvenile Absence Epilepsy

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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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MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2GABRA1, GABRG2, ALDH5A1, CACNG3, CLCN2, KCNK9
2MP:00028737.4KCNK9, CACNG3, GRIK1, GABRG2, GABRA1, GABRB3
3MP:00053786.4CACNG3, CACNA1H, ALDH5A1, GRIK1, GRIK2, GABRG2
4MP:00053866.2CACNG3, CHRNB3, EFHC1, CLCN2, ALDH5A1, GRIK1
5MP:00036315.6GABRB3, KCNK9, CLCN2, EFHC1, CACNG3, CACNA1H

Publications for Juvenile Absence Epilepsy

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Articles related to Juvenile Absence Epilepsy:

(show all 15)
idTitleAuthorsYear
1
Zonisamide for refractory juvenile absence epilepsy. (24907183)
2014
2
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. (24684814)
2014
3
The double generalization phenomenon in juvenile absence epilepsy. (21571594)
2011
4
Long term prognosis of juvenile absence epilepsy. (21163225)
2011
5
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
6
Temporal intermittent I' activity: a marker of juvenile absence epilepsy? (21044851)
2011
7
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. (20061122)
2010
8
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. (19616977)
2010
9
Juvenile absence epilepsy exacerbated by valproic acid. (17275666)
2007
10
Outcome of children with juvenile absence epilepsy. (16970883)
2006
11
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. (15582027)
2004
12
Long-term prognosis for childhood and juvenile absence epilepsy. (15503104)
2004
13
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. (11920863)
2002
14
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. (9259378)
1997
15
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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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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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
9.7CLCN2, KCNK9
39.7CACNA1H, CHRNB3
4
Show member pathways
9.4CACNA1H, CACNG3
5
Show member pathways
9.2GRIK1, GRIK2
6
Show member pathways
9.1GABRB3, GABRA1, GABRG2
7
Show member pathways
9.1GABRB3, GABRA1, GABRG2
8
Show member pathways
9.1GABRG2, GABRA1, GABRB3
99.1GABRG2, GABRA1, GABRB3
10
Show member pathways
9.1GABRG2, GABRA1, GABRB3
11
Show member pathways
8.8CLCN2, GABRG2, GABRA1, GABRB3
12
Show member pathways
8.8GABRB3, GABRA1, GABRG2, CLCN2
13
Show member pathways
8.7CACNA1H, CACNG3, CLCN2, KCNK9
14
Show member pathways
8.2CACNG3, CACNA1H, GRIK1, GRIK2
15
Show member pathways
7.7KCNK9, CACNG3, CACNA1H, GABRG2, GABRA1, GABRB3
16
Show member pathways
7.6CHRNB3, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
17
Show member pathways
7.3CACNA1H, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
18
Show member pathways
6.3GABRB3, KCNK9, CHRNB3, CACNG3, ALDH5A1, GRIK1

Compounds for genes affiliated with Juvenile Absence Epilepsy

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Compounds related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1flumazenil28 44 1112.0GABRA1, GABRG2
2zn2+2810.0GABRA1, CLCN2
3topiramate44 50 24 1112.8GRIK1, GABRA1
4halothane44 50 28 1112.7GABRA1, KCNK9
5(-)-bicuculline methochloride619.6GABRA1, GABRG2, GABRB3
62,4-epi-neodysiherbaine289.6GRIK1, GRIK2
7(+)-bicuculline619.6GABRB3, GABRA1, GABRG2
8concanavalin a289.6GRIK1, GRIK2
9(-)-bicuculline methiodide619.6GABRG2, GABRA1, GABRB3
10sr 95531 hydrobromide619.6GABRG2, GABRA1, GABRB3
11ly38288444 2810.6GRIK1, GRIK2
12estazolam44 1110.6GABRG2, GABRA1, GABRB3
13quazepam44 1110.6GABRB3, GABRA1, GABRG2
14nitrazepam44 1110.6GABRG2, GABRA1, GABRB3
15bromazepam44 1110.6GABRG2, GABRA1, GABRB3
16amobarbital44 1110.6GABRA1, GRIK2
17flurazepam44 1110.6GABRG2, GABRA1, GABRB3
18lorazepam44 50 1111.6GABRG2, GABRA1, GABRB3
19oxazepam50 1110.6GABRG2, GABRA1, GABRB3
20[3h]kainate289.6GRIK1, GRIK2
21chlordiazepoxide44 1110.6GABRG2, GABRA1, GABRB3
22clonazepam44 1110.5GABRG2, GABRA1, GABRB3
23dysiherbaine289.5GRIK1, GRIK2
24tbps44 2810.5GABRG2, GABRA1, GABRB3
25muscimol44 61 2811.5GABRG2, GABRA1, GABRB3
26acet61 2810.5GRIK1, GRIK2
27triazolam44 1110.5GABRB3, GABRA1, GABRG2
28clobazam44 50 1111.5GABRG2, GABRA1, GABRB3
29domoic acid61 28 1111.5GRIK1, GRIK2
30alprazolam44 1110.5GABRG2, GABRA1, GABRB3
31kainic acid619.5GRIK2, GRIK1
32Gamma-Aminobutyric acid249.5GABRB3, GABRA1, GABRG2
33ubp 302619.5GRIK2, GRIK1
34picrotoxin44 28 1111.5GABRB3, GABRA1
35primidone44 1110.5GABRA1, GRIK2
36sym2081289.5GRIK2, GRIK1
37midazolam44 50 1111.5GABRB3, GABRA1, GABRG2
38diazepam44 28 50 1112.5GABRG2, GABRA1, GABRB3
39ly29355844 2810.5GRIK2, GRIK1
40[3h](2s,4r)-4-methylglutamate289.5GRIK1, GRIK2
41hexobarbital44 1110.5GRIK2, GABRA1
42cyclothiazide44 28 1111.5GRIK2, GRIK1
43cnqx44 6110.4GRIK1, GRIK2
44thiopental44 1110.4GABRA1, GRIK2
45pentobarbital44 1110.4GRIK2, GABRA1
46chlorine44 2410.2CLCN2, GABRG2, GABRA1, GABRB3
47anandamide61 44 28 2412.2CACNA1H, KCNK9
48glutamate448.4KCNK9, ALDH5A1, GRIK1, GRIK2
49gaba448.0GABRB3, GABRA1, GABRG2, GRIK2, GRIK1, ALDH5A1
50calcium44 50 24 1110.6KCNK9, EFHC1, CACNG3, CACNA1H, ALDH5A1, GRIK1

GO Terms for genes affiliated with Juvenile Absence Epilepsy

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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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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