MCID: CHL002
MIFTS: 54

Childhood Absence Epilepsy malady

Summaries for Childhood Absence Epilepsy

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.

MalaCards: Childhood Absence Epilepsy, also known as petit mal seizure, is related to juvenile absence epilepsy and focal epilepsy. An important gene associated with Childhood Absence Epilepsy is CACNA1H (calcium channel, voltage-dependent, T type, alpha 1H subunit), and among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and Synaptic Neurotransmission: Glutamatergic Excitation. The drugs sodium valproate and valproic acid and the compounds flumazenil and kurtoxin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and amygdala, and related mouse phenotypes are reproductive system and no phenotypic analysis.

Wikipedia:63 Childhood absence epilepsy (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which... more...

Aliases & Classifications for Childhood Absence Epilepsy

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH
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Aliases & Descriptions:

childhood absence epilepsy 8 10 44
petit mal seizure 8
absence epilepsy 60
pyknolepsy 8


Related Diseases for Childhood Absence Epilepsy

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17GeneCards, 18GeneDecks
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Diseases in the Epilepsy, Childhood Absence, Susceptibility to, 2 family:

childhood absence epilepsy Epilepsy, Childhood Absence, Susceptibility to, 6
Epilepsy, Childhood Absence, Susceptibility to, 5 Epilepsy, Childhood Absence, Susceptibility to, 4
Epilepsy, Childhood Absence, 1

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile absence epilepsy30.6CLCN2, GABRB3, GABRG2, GABRA1, CACNG3, CACNA1H
2focal epilepsy30.5GABRG2, CHRNA4
3idiopathic generalized epilepsy30.5CHRNA4, GABRG2
4juvenile myoclonic epilepsy30.5GABBR1, GABRA1, GABRG2, CHRNA4
5epilepsy syndrome30.2GABBR1, GABRA1, GABRG2, GABRB3, CHRNA4, GRIK1
6frontal lobe epilepsy30.0CHRNA4, GABRG2
7early onset absence epilepsy10.4
8epilepsy, childhood absence, susceptibility to, 210.4
9neuronitis10.2
10epilepsy, juvenile myoclonic 510.2
11epilepsy, idiopathic generalized 610.2
12parkinson's disease10.0
13benign epilepsy with centrotemporal spikes10.0
14temporal lobe epilepsy10.0
15periventricular nodular heterotopia10.0
16west syndrome10.0
17epilepsy with generalized tonic-clonic seizures10.0
18brain disease10.0
19megaloblastic anemia due to dihydrofolate reductase deficiency10.0
20epilepsy, generalized, with febrile seizures plus, type 510.0
21glut1 deficiency syndrome 210.0
22epilepsy, generalized, with febrile seizures plus, type 310.0
23episodic ataxia10.0
24succinic semialdehyde dehydrogenase deficiency10.0
25nicotine dependence10.0CHRNA4
26bipolar disorder10.0GABRA5, GABRA1
27angelman syndrome10.0GABRB3, GABRA5
28benign familial neonatal-infantile seizures10.0CHRNA4, GABRG2
29febrile seizures10.0GABRG2, CHRNA4
30autistic disorder10.0GRIK1, GABRB3, GABRA5
31early myoclonic encephalopathy10.0GABRG2, CHRNA4
32schizophrenia10.0GRM2, GRIK1, CHRNA4, GABRG2, GABBR1
33coloboma9.9
34arachnoiditis9.9
35migraine9.9
36migraine with aura9.9
37turner syndrome9.9
38epilepsy, juvenile absence, susceptibility to, 19.9
39epilepsy, juvenile myoclonic 89.9
40epilepsy with myoclonic absences9.9

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



Diseases related to childhood absence epilepsy

Clinical Features for Childhood Absence Epilepsy

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Drugs & Therapeutics for Childhood Absence Epilepsy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Childhood Absence Epilepsy

Drug clinical trials:

Search ClinicalTrials for Childhood Absence Epilepsy

Search NIH Clinical Center for Childhood Absence Epilepsy

Search CenterWatch for Childhood Absence Epilepsy

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Childhood Absence Epilepsy

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Anatomical Context for Childhood Absence Epilepsy

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32MalaCards
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MalaCards organs/tissues related to Childhood Absence Epilepsy:

32
Brain, Testes, Amygdala

Animal Models for Childhood Absence Epilepsy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1GABBR1, GABRA1, GABRG2, GABRB3, HCN2, KHDRBS3
2MP:00030128.9KCNK9, CHRNA4, GABRA1, GABRA5, CACNA1G, GABRB3
3MP:00053788.2GABRA1, GABRG2, GABRB3, GRIK1, CACNG3, HCN2
4MP:00036317.5GABBR1, LGI4, CLCN2, CACNA1H, CACNG3, GRM2
5MP:00053867.5CACNA1G, CACNG3, GABBR1, GABRA5, GABRA1, GABRG2

Publications for Childhood Absence Epilepsy

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50PubMed
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Articles related to Childhood Absence Epilepsy:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
Diffusion tensor tractography reveals disrupted structural connectivity in childhood absence epilepsy. (24246142)
2014
2
Absence in childhood absence epilepsy: the horse is out of the barn. (24089389)
2013
3
Intellectual functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes. (23992789)
2013
4
GABRB3 mutation, G32R, associated with childhood absence epilepsy alters I+1I^3I^2L I^-aminobutyric acid type A (GABAA) receptor expression and channel gating. (22303015)
2012
5
Long-term effectiveness of ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. (21893390)
2012
6
Mutation Screening of the I^-Aminobutyric Acid Type-A Receptor Subunit I^2 Gene in Korean Patients with Childhood Absence Epilepsy. (23323135)
2012
7
White matter impairment in the basal ganglia-thalamocortical circuit of drug-naA^ve childhood absence epilepsy. (22227509)
2012
8
Focal and generalized EEG paroxysms in childhood absence epilepsy: topographic associations and distinctive behaviors during the first cycle of non-REM sleep. (22360352)
2012
9
Attention and executive functions profile in childhood absence epilepsy. (22459253)
2012
10
Impaired attention and network connectivity in childhood absence epilepsy. (21421063)
2011
11
A pilot study of topiramate in childhood absence epilepsy. (20219018)
2011
12
Interictal paroxysmal EEG abnormalities in childhood absence epilepsy. (21282069)
2011
13
Recurrence of childhood absence epilepsy as pyknolepsy in adolescence. (21896423)
2011
14
Treatment of childhood absence epilepsy-an evidence-based answer at last! (21852860)
2011
15
Differentiation of attention-related problems in childhood absence epilepsy. (20674507)
2010
16
When the past challenges the present: are older antiepileptic drugs still the best choice in childhood absence epilepsy? (20398853)
2010
17
Dysfunction of executive and related processes in childhood absence epilepsy. (20656561)
2010
18
Gastaut type-idiopathic childhood occipital epilepsy and childhood absence epilepsy: a clinically significant association? (20471287)
2010
19
Childhood absence epilepsy in patients with benign focal epileptiform discharges. (19931164)
2009
20
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. (19837565)
2009
21
EEG-fMRI study on the interictal and ictal generalized spike-wave discharges in patients with childhood absence epilepsy. (19836209)
2009
22
Risk factors for valproic acid resistance in childhood absence epilepsy. (19836978)
2009
23
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (18514161)
2008
24
Multi-site voxel-based morphometry: methods and a feasibility demonstration with childhood absence epilepsy. (18585930)
2008
25
Neuropsychiatric comorbidities in childhood absence epilepsy. (19015658)
2008
26
Childhood absence epilepsy: behavioral, cognitive, and linguistic comorbidities. (18557780)
2008
27
Childhood absence epilepsy requiring more than one medication for seizure control. (18714796)
2008
28
The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations. (17215393)
2007
29
Linkage and association analysis of CACNG3 in childhood absence epilepsy. (17264864)
2007
30
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. (17947380)
2007
31
New variants in the CACNA1H gene identified in childhood absence epilepsy. (16905256)
2006
32
Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features. (15508924)
2005
33
T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy]. (15833171)
2005
34
Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy. (15498372)
2004
35
EEG in childhood absence epilepsy. (15158699)
2004
36
The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. (15470132)
2004
37
Analysis of childhood absence epilepsy using haplotype-based haplotype relative risk and transmission disequilibrium test. (15275697)
2004
38
The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population. (12770685)
2003
39
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. (10995568)
2000
40
Ictal and interictal SPECT findings in childhood absence epilepsy. (10880286)
2000
41
Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. (10510981)
1999
42
Periventricular nodular heterotopia and childhood absence epilepsy. (10328284)
1999
43
JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. (9675132)
1998
44
Childhood absence epilepsy and accidents. (9311348)
1997
45
Gabapentin in naive childhood absence epilepsy: results from two double-blind, placebo-controlled, multicenter studies. (9120226)
1996
46
Childhood absence epilepsy. (8039044)
1994
47
Evolution of childhood absence epilepsy, juvenile myoclonic epilepsy and epilepsy with grand mal on awakening. (8184687)
1994
48
Physical exercise and voluntary hyperventilation in childhood absence epilepsy. (1713826)
1991
49
Circadian rhythm of regular spike-wave discharges in childhood absence epilepsy. (1928615)
1991
50
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

Genetic Variations for Childhood Absence Epilepsy

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Expression for genes affiliated with Childhood Absence Epilepsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Childhood Absence Epilepsy

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

Pathways for genes affiliated with Childhood Absence Epilepsy

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Sources:
49PharmGKB, 52R&D Systems, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 59Tocris Bioscience, 51QIAGEN, 29KEGG
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Pathways related to Childhood Absence Epilepsy according to GeneCards/GeneDecks:

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2GABRG2, GABRA1
2
Hide members
10.0GRM2, GABBR1
39.9HCN2, CACNA1H, CACNA1G
49.9HCN2, GABBR1, KCNK9
59.8CACNA1G, CACNA1H, CACNA1I
6
Hide members
9.8CACNA1I, CACNA1H, CACNA1G
79.8CACNA1G, CACNA1H, CACNA1I
8
Hide members
9.8GABRB3, GABRG2, GABRA1, GABRA5
99.6CHRNA4, CACNA1I, CACNA1H, CACNA1G
109.6CACNA1G, CACNA1H, CACNA1I, CACNG3
11
Hide members
9.6CACNA1G, CACNA1H, CACNA1I, CACNG3
12
Hide members
9.6CACNA1G, CACNA1H, CACNA1I, CACNG3
13
Hide members
9.6CACNA1G, CACNA1H, CACNA1I, CACNG3
14
Hide members
9.6CACNA1G, CACNA1H, CACNA1I, CACNG3
15
Development Ligand-independent activation of ESR1 and ESR2
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9.6CACNA1G, CACNA1H, CACNA1I, CACNG3
16
Hide members
9.6CACNA1G, CACNA1H, CACNA1I, CACNG3
17
Hide members
9.6CACNG3, CACNA1I, CACNA1H, CACNA1G
18
Hide members
9.6CACNG3, CACNA1I, CACNA1H, CACNA1G
199.6CACNG3, CACNA1I, CACNA1H, CACNA1G
209.6GABRA5, GABRA1, GABRG2, GABRB3, CHRNA4
21
Hide members
9.6GABRA5, GABRA1, GABRG2, GABRB3, CLCN2
22
Hide members
9.6GABRA5, GABRA1, GABRG2, GABRB3, CLCN2
23
Hide members
9.6GABBR1, GABRA5, GABRA1, GABRG2, GABRB3
24
Hide members
9.6GABBR1, GABRA5, GABRA1, GABRG2, GABRB3
25
Hide members
9.2KCNK9, CACNA1G, CACNA1H, CACNA1I, CACNG3, CLCN2
26
Hide members
8.9CACNA1G, CACNA1H, CACNA1I, CACNG3, CHRNA4, GRIK1
27
Hide members
8.9GABBR1, GABRA5, GABRA1, GABRG2, GABRB3, CHRNA4
28
Hide members
8.6GABRA5, GABBR1, CACNG3, KCNK9, GABRA1, GABRG2
29
Hide members
8.5CACNA1I, CACNA1H, CACNA1G, KCNK9, CACNG3, GABRA5
30
Hide members
8.3GRM2, CACNA1G, CACNA1H, CACNA1I, GABBR1, GABRA5

Compounds for genes affiliated with Childhood Absence Epilepsy

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

(show top 50)    (show all 104)
idCompoundScoreTop Affiliating Genes
1flumazenil44 28 1112.2GABRA5, GABRA1, GABRG2
2kurtoxin2810.2CACNA1G, CACNA1H, CACNA1I
3sb2097122810.2CACNA1G, CACNA1H, CACNA1I
4Ethchlorvynol1110.2GABRB3, GABRA1, GABRA5
5Halazepam1110.2GABRA1, GABRB3, GABRG2, GABRA5
6(-)-bicuculline methiodide5910.2GABRA5, GABRB3, GABRA1, GABRG2
7Cinolazepam1110.2GABRA5, GABRA1, GABRG2, GABRB3
8sr 95531 hydrobromide5910.2GABRA1, GABRG2, GABRB3, GABRA5
9Fludiazepam1110.2GABRA5, GABRB3, GABRG2, GABRA1
10(-)-bicuculline methochloride5910.2GABRA5, GABRA1, GABRG2, GABRB3
11(+)-bicuculline5910.2GABRA5, GABRA1, GABRG2, GABRB3
12Prazepam1110.2GABRA5, GABRG2, GABRB3, GABRA1
13Adinazolam1110.2GABRA5, GABRB3, GABRG2, GABRA1
14estazolam44 1111.2GABRB3, GABRA5, GABRA1, GABRG2
15quazepam44 1111.2GABRB3, GABRA1, GABRG2, GABRA5
16Metharbital1110.2GABRA1, GABRA5, CHRNA4
17Clotiazepam1110.2GABRB3, GABRA1, GABRA5, GABRG2
18Clorazepate1110.2GABRG2, GABRA5, GABRB3, GABRA1
19Heptabarbital1110.2CHRNA4, GABRA5, GABRA1
20bromazepam44 1111.1GABRB3, GABRA1, GABRA5, GABRG2
21nitrazepam44 1111.1GABRB3, GABRA5, GABRG2, GABRA1
22flurazepam44 1111.1GABRG2, GABRB3, GABRA5, GABRA1
23Aprobarbital1110.1GABRA1, CHRNA4, GABRA5
24ni2+2810.1CACNA1I, CACNA1H, CACNA1G
25Temazepam1110.1GABRG2, GABRB3, GABRA1, GABRA5
26lorazepam44 49 1112.1GABRB3, GABRA5, GABRG2, GABRA1
27chlordiazepoxide44 1111.1GABRG2, GABRA1, GABRB3, GABRA5
28Talbutal1110.1CHRNA4, GABRA1, GABRA5
29clobazam44 49 1112.1GABRA5, GABRA1, GABRG2, GABRB3
30oxazepam49 1111.1GABRB3, GABRG2, GABRA1, GABRA5
31pentobarbital44 1111.1GABRA5, GABBR1, GABRA1, CHRNA4
32tbps44 2811.1GABRB3, GABRG2, GABRA1, GABRA5
33Butethal1110.1CHRNA4, GABRA1, GABRA5
34triazolam44 1111.1GABRB3, GABRG2, GABRA5, GABRA1
35alprazolam44 1111.1GABRA1, GABRB3, GABRG2, GABRA5
36Butabarbital1110.1GABRA5, GABRA1, CHRNA4
37picrotoxin44 28 1112.1GABRA5, GABBR1, GABRA1, GABRB3
38midazolam44 49 1112.0GABRA5, GABRA1, GABRG2, GABRB3
39Barbituric acid derivative1110.0CHRNA4, GABRA1, GABRA5
40clonazepam44 1111.0GABRA5, GABRG2, GABRB3, GABRA1, GABBR1
41muscimol44 59 2812.0GABRB3, GABBR1, GABRG2, GABRA5, GABRA1
42diazepam44 49 28 1113.0GABRA1, GABRG2, GABRB3, GABBR1, GABRA5
43Butalbital1110.0CHRNA4, GABRA1, GABRA5
44anandamide44 28 59 2412.9CACNA1I, KCNK9, CACNA1G, CACNA1H
45Barbital119.9CHRNA4, GABRA1, GABRA5
46mibefradil dihydrochloride599.8CACNA1I, CACNA1H, CACNA1G
47amobarbital44 1110.8GABRA1, GABRA5, CHRNA4
48chlorine44 2410.8GABRA5, GABRB3, HCN2, GABRA1, CLCN2, GABRG2
49gaba449.5GABRA1, GRM2, GRIK1, GABRB3, GABBR1, GABRG2
50omega-conotoxin gvia599.5CACNA1I, CACNA1G, CACNA1H

GO Terms for genes affiliated with Childhood Absence Epilepsy

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16Gene Ontology
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Cellular components related to Childhood Absence Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1presynaptic membraneGO:0427349.8GRM2, GRIK1, GABBR1
2chloride channel complexGO:0347079.7GABRA5, GABRA1, GABRG2, GABRB3, CLCN2
3voltage-gated calcium channel complexGO:0058919.7CACNG3, CACNA1I, CACNA1H, CACNA1G
4dendriteGO:0304259.4GABBR1, GABRA5, CHRNA4, GRIK1, GRM2
5postsynaptic membraneGO:0452119.4GRIK1, GABBR1, GABRA5, GABRA1, GABRG2, GABRB3
6cell junctionGO:0300549.1GABBR1, GABRA5, GABRA1, GABRG2, GABRB3, CHRNA4
7integral to plasma membraneGO:0058878.8GABBR1, GABRA5, GABRA1, GABRG2, GABRB3, GRIK1
8plasma membraneGO:0058868.0KCNK9, CACNG3, GABBR1, GABRA5, GABRA1, GABRG2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:05193210.4GABRG2, GABRA1
2regulation of inhibitory postsynaptic membrane potentialGO:06008010.3GRIK1, CHRNA4
3inner ear receptor cell developmentGO:06011910.2GABRB3, GABRA5
4cochlea developmentGO:09010210.1KCNK9, GABRA5, GABRB3
5innervationGO:06038410.1GABRA5, GABRB3
6adult behaviorGO:03053410.0GRIK1, GABRG2
7negative regulation of adenylate cyclase activityGO:00719410.0GRM2, GABBR1
8gamma-aminobutyric acid signaling pathwayGO:00721410.0GABBR1, GABRA5, GABRA1, GABRG2
9regulation of membrane potentialGO:04239110.0HCN2, CHRNA4, CACNA1H, CACNA1G
10calcium ion transportGO:0068169.8CHRNA4, CACNG3, CACNA1I
11calcium ion importGO:0705099.8CACNA1H, CACNA1G
12ion transmembrane transportGO:0342209.8GABRA5, GABRA1, GABRG2, GABRB3, CLCN2
13transmembrane transportGO:0550859.7GABRA5, GABRA1, GABRG2, GABRB3, CLCN2
14transportGO:0068109.0CACNA1G, CACNA1H, CACNA1I, GABRA5, GABRA1, GABRG2
15synaptic transmissionGO:0072688.4HCN2, KCNK9, CACNA1G, CACNG3, GABBR1, GABRA5

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

idNameGO IDScoreTop Affiliating Genes
1scaffold protein bindingGO:09711010.1CACNA1H, CACNA1G
2GABA-A receptor activityGO:0048909.8GABRB3, GABRG2, GABRA1, GABRA5
3low voltage-gated calcium channel activityGO:0083329.8CACNA1I, CACNA1H, CACNA1G
4extracellular ligand-gated ion channel activityGO:0052309.7GABRA5, GABRA1, GABRG2, GABRB3
5chloride channel activityGO:0052549.5GABRB3, GABRG2, GABRA1, GABRA5

Products for genes affiliated with Childhood Absence Epilepsy

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Sources for Childhood 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