MCID: JVN007
MIFTS: 44

Juvenile Absence Epilepsy malady

Summaries for Juvenile Absence Epilepsy

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8Disease Ontology, 63Wikipedia, 32MalaCards
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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 epilepsy with generalized tonic-clonic seizures and idiopathic generalized 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 Activation of Na-permeable Kainate Receptors. The drugs sodium valproate and valproic acid and the compounds Ginkgo biloba and flumazenil have been mentioned in the context of this disorder. Related mouse phenotypes are normal and growth/size.

Wikipedia:63 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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8Disease Ontology, 10DISEASES, 42NIH Rare Diseases, 22GTR, 60UMLS
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Aliases & Descriptions:

juvenile absence epilepsy 8 10
epilepsy juvenile absence 42 22 60


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Disease Ontology8 DOID:0060172

Related Diseases for Juvenile Absence Epilepsy

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Juvenile Absence Epilepsy:



Diseases related to juvenile absence epilepsy

Clinical Features for Juvenile Absence Epilepsy

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Drugs & Therapeutics for Juvenile Absence Epilepsy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

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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36MGI
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MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028737.7CACNG3, GABRA1, GABRG2, GABRB3, GRIK1, KCNK9
2MP:00053786.2CACNA1H, CACNG3, GABRA1, GABRG2, GABRB3, GRIK1
3MP:00053866.1GABRB3, GABRG2, GABRA1, CACNG3, CHRNB3, GRIK1
4MP:00036315.6ALDH5A1, KCNK9, CACNA1H, CACNG3, GABRA1, GABRG2

Publications for Juvenile Absence Epilepsy

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50PubMed
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Articles related to Juvenile Absence Epilepsy:

(show all 24)
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
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. (17507253)
2007
8
Juvenile absence epilepsy exacerbated by valproic acid. (17275666)
2007
9
Overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. (16793291)
2006
10
Outcome of children with juvenile absence epilepsy. (16970883)
2006
11
Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features. (15508924)
2005
12
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. (15582027)
2004
13
Long-term prognosis for childhood and juvenile absence epilepsy. (15503104)
2004
14
Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. (14631097)
2003
15
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. (11920863)
2002
16
Post-grand mal absence status: a diagnostic challenge in two patients with juvenile myoclonic epilepsy. (10631645)
1999
17
Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. (10514826)
1999
18
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. (9259378)
1997
19
Thyroxine exacerbates absence seizures in juvenile myoclonic epilepsy. (8757055)
1996
20
Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy. (8857718)
1996
21
Evolution of childhood absence epilepsy, juvenile myoclonic epilepsy and epilepsy with grand mal on awakening. (8184687)
1994
22
Clinical and genetic aspects of juvenile absence epilepsy. (7964917)
1994
23
Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy. (2121470)
1990
24
Absences in juvenile myoclonic epilepsy: a clinical and video-electroencephalographic study. (2496640)
1989

Genetic Variations for Juvenile Absence Epilepsy

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Expression for genes affiliated with Juvenile Absence Epilepsy

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1BioGPS, 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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49PharmGKB, 53Reactome, 12EMD Millipore, 59Tocris Bioscience, 52R&D Systems, 29KEGG, 51QIAGEN
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Pathways related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GABRG2, GABRA1
29.2GRIK2, GRIK1
39.2GRIK2, GRIK1
4
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9.1GABRB3, GABRG2, GABRA1
5
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9.1GABRA1, GABRG2, GABRB3
6
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9.1GABRB3, GABRG2, GABRA1
79.1GABRA1, GABRG2, GABRB3
8
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8.8GABRA1, GABRG2, GABRB3, CLCN2
9
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8.8GABRA1, GABRG2, GABRB3, CLCN2
10
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8.7CLCN2, CACNG3, CACNA1H, KCNK9
11
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8.2GRIK2, GRIK1, CACNG3, CACNA1H
12
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7.7KCNK9, CACNA1H, CACNG3, GABRA1, GABRG2, GABRB3
13
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7.5GABRA1, GABRG2, GABRB3, CHRNB3, GRIK1, GRIK2
14
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7.3CACNA1H, GABRA1, GABRG2, GABRB3, GRIK1, GRIK2
15
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6.3ALDH5A1, KCNK9, CACNG3, GABRA1, GABRG2, GABRB3

Compounds for genes affiliated with Juvenile Absence Epilepsy

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11DrugBank, 44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Juvenile Absence Epilepsy according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1Ginkgo biloba119.9GABRG2, GABRA1
2flumazenil44 28 1111.9GABRA1, GABRG2
3Ethchlorvynol119.6GABRB3, GABRA1
4Cinolazepam119.6GABRB3, GABRG2, GABRA1
5Halazepam119.6GABRB3, GABRG2, GABRA1
6Fludiazepam119.6GABRB3, GABRG2, GABRA1
7(+)-bicuculline599.6GABRA1, GABRG2, GABRB3
8sr 95531 hydrobromide599.6GABRB3, GABRG2, GABRA1
9(-)-bicuculline methiodide599.6GABRB3, GABRG2, GABRA1
10(-)-bicuculline methochloride599.6GABRB3, GABRG2, GABRA1
11Prazepam119.6GABRA1, GABRG2, GABRB3
12Adinazolam119.6GABRA1, GABRG2, GABRB3
13estazolam44 1110.6GABRA1, GABRG2, GABRB3
14quazepam44 1110.6GABRB3, GABRG2, GABRA1
15Clotiazepam119.6GABRA1, GABRG2, GABRB3
162,4-epi-neodysiherbaine289.6GRIK1, GRIK2
17Clorazepate119.6GABRB3, GABRG2, GABRA1
18bromazepam44 1110.5GABRA1, GABRG2, GABRB3
19concanavalin a289.5GRIK1, GRIK2
20nitrazepam44 1110.5GABRA1, GABRG2, GABRB3
21Temazepam119.5GABRA1, GABRG2, GABRB3
22ly38288444 2810.5GRIK1, GRIK2
23lorazepam44 49 1111.5GABRA1, GABRG2, GABRB3
24flurazepam44 1110.5GABRA1, GABRG2, GABRB3
25oxazepam49 1110.5GABRA1, GABRG2, GABRB3
26clobazam44 49 1111.5GABRA1, GABRG2, GABRB3
27chlordiazepoxide44 1110.5GABRA1, GABRG2, GABRB3
28tbps44 2810.5GABRA1, GABRG2, GABRB3
29[3h]kainate289.5GRIK1, GRIK2
30clonazepam44 1110.5GABRA1, GABRG2, GABRB3
31muscimol44 59 2811.5GABRB3, GABRG2, GABRA1
32dysiherbaine289.5GRIK1, GRIK2
33triazolam44 1110.5GABRA1, GABRG2, GABRB3
34acet59 2810.5GRIK1, GRIK2
35domoic acid59 28 1111.5GRIK1, GRIK2
36alprazolam44 1110.5GABRA1, GABRG2, GABRB3
37ubp 302599.5GRIK1, GRIK2
38midazolam44 49 1111.5GABRB3, GABRG2, GABRA1
39diazepam44 49 28 1112.5GABRA1, GABRG2, GABRB3
40kainic acid599.5GRIK1, GRIK2
41ly29355828 4410.4GRIK1, GRIK2
42sym2081289.4GRIK1, GRIK2
43[3h](2s,4r)-4-methylglutamate289.4GRIK2, GRIK1
44Metharbital119.3GRIK2, GABRA1
45Heptabarbital119.3GABRA1, GRIK2
46Butethal119.3GABRA1, GRIK2
47chlorine44 2410.2GABRA1, GABRG2, GABRB3, CLCN2
48Butalbital119.2GABRA1, GRIK2
49Barbituric acid derivative119.0GABRA1, GRIK2
50gaba448.0ALDH5A1, GABRA1, GABRG2, GABRB3, GRIK1, GRIK2

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:0058919.1CACNG3, CACNA1H
4chloride channel complexGO:0347078.9GABRA1, GABRG2, GABRB3, CLCN2
5integral to plasma membraneGO:0058877.8GABRA1, GABRG2, GABRB3, GRIK1, GRIK2
6postsynaptic membraneGO:0452117.7GRIK2, GRIK1, CHRNB3, GABRB3, GABRG2, GABRA1
7cell junctionGO:0300547.7GABRA1, GABRG2, GABRB3, CHRNB3, GRIK1, GRIK2
8plasma membraneGO:0058866.4KCNK9, CACNG3, GABRA1, GABRG2, GABRB3, CHRNB3

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:05193210.0GABRA1, GABRG2
2gamma-aminobutyric acid signaling pathwayGO:0072149.8GABRA1, GABRG2
3adult behaviorGO:0305349.8GRIK1, GABRG2
4cochlea developmentGO:0901029.6GABRB3, KCNK9
5regulation of inhibitory postsynaptic membrane potentialGO:0600809.4GRIK2, GRIK1
6negative regulation of synaptic transmission, glutamatergicGO:0519679.4GRIK2, GRIK1
7glutamate receptor signaling pathwayGO:0072159.4GRIK1, GRIK2
8synaptic transmission, glutamatergicGO:0352499.2GRIK2, GRIK1
9regulation of excitatory postsynaptic membrane potentialGO:0600799.2GRIK2, GRIK1
10ion transmembrane transportGO:0342209.1CLCN2, GABRB3, GABRG2, GABRA1
11RNA modificationGO:0094518.9GRIK2, GRIK1
12transmembrane transportGO:0550858.7GABRA1, GABRG2, GABRB3, CLCN2
13transportGO:0068107.0CACNA1H, GABRA1, GABRG2, GABRB3, CHRNB3, GRIK1
14synaptic transmissionGO:0072686.6ALDH5A1, KCNK9, CACNG3, GABRA1, GABRG2, GABRB3

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

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:0048909.2GABRB3, GABRG2, GABRA1
2extracellular-glutamate-gated ion channel activityGO:0052349.2GRIK2, GRIK1
3extracellular ligand-gated ion channel activityGO:0052309.1GABRB3, GABRG2, GABRA1
4chloride channel activityGO:0052549.0GABRA1, GABRG2, GABRB3
5kainate selective glutamate receptor activityGO:0152778.9GRIK2, 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet