MCID: JVN007
MIFTS: 47

Juvenile Absence Epilepsy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Juvenile Absence Epilepsy

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Juvenile Absence Epilepsy, Aliases & Descriptions:

Name: Juvenile Absence Epilepsy 9 41 11 47
Epilepsy Juvenile Absence 41 22
Jae 41 47
 
Childhood Absence Epilepsy 41
Absence Epilepsy 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
juvenile absence epilepsy:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:0060172
Orphanet47 1941
MESH via Orphanet34 C535495
ICD10 via Orphanet26 G40.3
UMLS via Orphanet61 C2930918

Summaries for Juvenile Absence Epilepsy

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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 based summary: Juvenile Absence Epilepsy, also known as epilepsy juvenile absence, is related to childhood absence epilepsy and epilepsy, idiopathic generalized. 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 clonazepam and ethosuximide and the compounds flumazenil and zn2+ have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and normal.

Related Diseases for Juvenile Absence Epilepsy

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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 UMLS60/NDF-RT39:

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:

35
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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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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Clinvar genetic disease variations for Juvenile Absence Epilepsy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1EFHC1NM_018100.3(EFHC1): c.520A> G (p.Ile174Val)single nucleotide variantrisk factorrs137852779GRCh37Chr 6, 52303336: 52303336
2EFHC1NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr)single nucleotide variantrisk factorrs137852780GRCh37Chr 6, 52318945: 52318945

Expression for genes affiliated with Juvenile Absence Epilepsy

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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 Suite gene sharing:

(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
3
Show member pathways
9.4CACNG3, CACNA1H
4
Show member pathways
9.1GABRA1, GABRG2, GABRB3
59.1GABRA1, GABRG2, GABRB3
6
Show member pathways
9.1GABRB3, GABRG2, GABRA1
7
Show member pathways
9.1GABRG2, GABRA1, GABRB3
8
Show member pathways
8.8GABRA1, GABRG2, CLCN2, GABRB3
9
Show member pathways
8.8GABRB3, GABRA1, GABRG2, CLCN2
10
Show member pathways
8.7KCNK9, CLCN2, CACNG3, CACNA1H
11
Show member pathways
8.2CACNG3, GRIK2, GRIK1, CACNA1H
12
Show member pathways
7.7GABRA1, KCNK9, CACNG3, CACNA1H, GABRG2, GABRB3
13
Show member pathways
7.6GABRA1, GABRG2, GABRB3, GRIK2, GRIK1, CHRNB3
14
Show member pathways
7.3CACNA1H, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
15
Show member pathways
6.3GRIK2, KCNK9, CHRNB3, CACNG3, GRIK1, GABRB3

Compounds for genes affiliated with Juvenile Absence Epilepsy

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Compounds related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 50)
idCompoundScoreTop Affiliating Genes
1flumazenil28 43 1212.0GABRG2, GABRA1
2zn2+2810.0CLCN2, GABRA1
3topiramate43 49 24 1212.8GRIK1, GABRA1
4halothane43 49 28 1212.7KCNK9, GABRA1
5(-)-bicuculline methochloride599.6GABRB3, GABRA1, GABRG2
6ly38288443 2810.6GRIK1, GRIK2
7sr 95531 hydrobromide599.6GABRG2, GABRB3, GABRA1
8concanavalin a289.6GRIK1, GRIK2
9(-)-bicuculline methiodide599.6GABRG2, GABRB3, GABRA1
10amobarbital43 1210.6GRIK2, GABRA1
11(+)-bicuculline599.6GABRA1, GABRG2, GABRB3
122,4-epi-neodysiherbaine289.6GRIK2, GRIK1
13estazolam43 1210.6GABRA1, GABRG2, GABRB3
14quazepam43 1210.6GABRG2, GABRB3, GABRA1
15nitrazepam43 1210.6GABRG2, GABRB3, GABRA1
16bromazepam43 1210.6GABRG2, GABRA1, GABRB3
17flurazepam43 1210.6GABRA1, GABRG2, GABRB3
18lorazepam43 49 1211.6GABRG2, GABRB3, GABRA1
19oxazepam49 1210.6GABRA1, GABRG2, GABRB3
20kainic acid599.6GRIK1, GRIK2
21chlordiazepoxide43 1210.6GABRA1, GABRG2, GABRB3
22clonazepam43 1210.5GABRG2, GABRB3, GABRA1
23[3h]kainate289.5GRIK1, GRIK2
24tbps43 2810.5GABRB3, GABRA1, GABRG2
25muscimol43 59 2811.5GABRG2, GABRB3, GABRA1
26dysiherbaine289.5GRIK1, GRIK2
27triazolam43 1210.5GABRG2, GABRB3, GABRA1
28clobazam43 49 1211.5GABRG2, GABRB3, GABRA1
29ubp 302599.5GRIK1, GRIK2
30alprazolam43 1210.5GABRA1, GABRG2, GABRB3
31domoic acid59 28 1211.5GRIK2, GRIK1
32Gamma-Aminobutyric acid249.5GABRG2, GABRA1, GABRB3
33acet59 2810.5GRIK1, GRIK2
34picrotoxin43 28 1211.5GABRA1, GABRB3
35primidone43 1210.5GRIK2, GABRA1
36ly29355843 2810.5GRIK2, GRIK1
37midazolam43 49 1211.5GABRA1, GABRB3, GABRG2
38diazepam43 28 49 1212.5GABRB3, GABRA1, GABRG2
39sym2081289.5GRIK1, GRIK2
40[3h](2s,4r)-4-methylglutamate289.5GRIK2, GRIK1
41hexobarbital43 1210.5GABRA1, GRIK2
42cyclothiazide43 28 1211.5GRIK2, GRIK1
43cnqx43 5910.4GRIK2, GRIK1
44thiopental43 1210.4GRIK2, GABRA1
45pentobarbital43 1210.4GRIK2, GABRA1
46chlorine43 2410.2GABRA1, GABRB3, CLCN2, GABRG2
47anandamide59 43 28 2412.2KCNK9, CACNA1H
48glutamate438.4KCNK9, GRIK2, GRIK1, ALDH5A1
49gaba438.0GABRG2, GRIK1, GABRA1, ALDH5A1, GRIK2, GABRB3
50calcium43 49 24 1210.6GRIK1, KCNK9, ALDH5A1, CACNG3, CACNA1H, EFHC1

GO Terms for genes affiliated with Juvenile Absence Epilepsy

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Cellular components related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1kainate selective glutamate receptor complexGO:00329839.2GRIK2, GRIK1
2presynaptic membraneGO:00427349.2GRIK2, GRIK1
3voltage-gated calcium channel complexGO:00058919.1CACNG3, CACNA1H
4chloride channel complexGO:00347078.9GABRB3, GABRA1, GABRG2, CLCN2
5integral component of plasma membraneGO:00058877.8GRIK1, GABRG2, GABRA1, GRIK2, GABRB3
6postsynaptic membraneGO:00452117.7CHRNB3, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
7cell junctionGO:00300547.7GABRA1, GABRG2, GRIK2, GRIK1, CHRNB3, GABRB3
8plasma membraneGO:00058866.4CACNG3, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3

Biological processes related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:005193210.0GABRA1, GABRG2
2gamma-aminobutyric acid signaling pathwayGO:00072149.9GABRG2, GABRA1
3post-embryonic developmentGO:00097919.8GABRG2, ALDH5A1
4cochlea developmentGO:00901029.6GABRB3, KCNK9
5adult behaviorGO:00305349.5GRIK1, GABRG2
6regulation of inhibitory postsynaptic membrane potentialGO:00600809.4GRIK2, GRIK1
7negative regulation of synaptic transmission, glutamatergicGO:00519679.4GRIK1, GRIK2
8glutamate receptor signaling pathwayGO:00072159.4GRIK2, GRIK1
9ionotropic glutamate receptor signaling pathwayGO:00352359.3GRIK2, GRIK1
10regulation of excitatory postsynaptic membrane potentialGO:00600799.2GRIK1, GRIK2
11synaptic transmission, glutamatergicGO:00352498.9GRIK2, GRIK1
12transmembrane transportGO:00550858.8CLCN2, CHRNB3, GABRG2, GABRA1, GABRB3
13ion transmembrane transportGO:00342207.8CLCN2, GRIK1, GRIK2, GABRG2, GABRA1, GABRB3
14transportGO:00068107.0CLCN2, CHRNB3, CACNA1H, GRIK1, GRIK2, GABRG2
15synaptic transmissionGO:00072686.6GABRB3, KCNK9, CHRNB3, CACNG3, ALDH5A1, GRIK1

Molecular functions related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1drug bindingGO:00081449.8GABRA1, CHRNB3
2GABA-A receptor activityGO:00048909.2GABRB3, GABRA1, GABRG2
3extracellular ligand-gated ion channel activityGO:00052309.2GABRB3, GABRA1, GABRG2
4chloride channel activityGO:00052549.1GABRG2, GABRA1, GABRB3
5kainate selective glutamate receptor activityGO:00152779.1GRIK2, GRIK1
6extracellular-glutamate-gated ion channel activityGO:00052348.9GRIK2, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet