MCID: CHL002
MIFTS: 55

Childhood Absence Epilepsy malady

Summaries for Childhood Absence Epilepsy

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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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 juvenile myoclonic 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, temporal lobe and occipital lobe, and related mouse phenotypes are reproductive system and no phenotypic analysis.

Wikipedia:64 Childhood absence epilepsy (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which... more...

Aliases & Classifications for Childhood Absence Epilepsy

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
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Aliases & Descriptions:

childhood absence epilepsy 8 10 45
petit mal seizure 8
absence epilepsy 61
pyknolepsy 8


Related Diseases for Childhood Absence Epilepsy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Childhood Absence Epilepsy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile absence epilepsy30.6CLCN2, GABRB3, GABRG2, GABRA1, CACNG3, CACNA1H
2juvenile myoclonic epilepsy30.5GABBR1, GABRA1, GABRG2, CHRNA4
3febrile seizures30.4GABRG2, CHRNA4
4frontal lobe epilepsy30.1CHRNA4, GABRG2
5early onset absence epilepsy10.4
6epilepsy, childhood absence, susceptibility to, 210.4
7epilepsy, juvenile myoclonic 510.2
8epilepsy, childhood absence, 110.2
9epilepsy, idiopathic generalized 610.2
10ataxia10.1
11parkinson's disease10.1
12temporal lobe epilepsy10.1
13periventricular nodular heterotopia10.1
14west syndrome10.1
15brain disease10.1
16megaloblastic anemia due to dihydrofolate reductase deficiency10.1
17myoclonus epilepsy10.1
18periventricular heterotopia10.1
19myoclonus10.1
20epilepsy, generalized, with febrile seizures plus, type 510.1
21glut1 deficiency syndrome 210.1
22epilepsy, generalized, with febrile seizures plus, type 310.1
23centrotemporal epilepsy10.1
24episodic ataxia10.0
25paroxysmal dyskinesia10.0
26nicotine dependence10.0CHRNA4
27bipolar disorder10.0GABRA5, GABRA1
28angelman syndrome10.0GABRB3, GABRA5
29benign familial neonatal-infantile seizures10.0CHRNA4, GABRG2
30focal epilepsy10.0GABRG2, CHRNA4
31idiopathic generalized epilepsy10.0CHRNA4, GABRG2
32autistic disorder10.0GRIK1, GABRB3, GABRA5
33early myoclonic encephalopathy10.0GABRG2, CHRNA4
34schizophrenia10.0GRM2, GRIK1, CHRNA4, GABRG2, GABBR1
35epilepsy syndrome10.0GABBR1, GABRA1, GABRG2, GABRB3, CHRNA4, GRIK1
36coloboma9.9
37succinic semialdehyde dehydrogenase deficiency9.9
38turner syndrome9.9
39arachnoid cysts9.9
40myoclonic astatic epilepsy9.9
41photosensitive epilepsy9.9
42epilepsy, juvenile absence, susceptibility to, 19.9
43epilepsy, juvenile absence, susceptibility to, 29.9
44epilepsy, juvenile myoclonic 89.9
45epilepsy 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

Drugs & Therapeutics for Childhood Absence Epilepsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Childhood Absence Epilepsy

Anatomical Context for Childhood Absence Epilepsy

Sources:
33MalaCards
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MalaCards organs/tissues related to Childhood Absence Epilepsy:

33
Brain, Temporal lobe, Occipital lobe, Amygdala

Animal Models for Childhood Absence Epilepsy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Childhood Absence Epilepsy

Sources:
51PubMed
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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
Assessment of control in typical childhood absence epilepsy. (23529908)
2013
3
Absence in childhood absence epilepsy: the horse is out of the barn. (24089389)
2013
4
Spatiotemporal profiles of focal and generalised spikes in childhood absence epilepsy. (23702456)
2013
5
Intellectual functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes. (23992789)
2013
6
Attention impairment in childhood absence epilepsy: an impulsivity problem? (23537619)
2013
7
Mutation Screening of the I^-Aminobutyric Acid Type-A Receptor Subunit I^2 Gene in Korean Patients with Childhood Absence Epilepsy. (23323135)
2012
8
Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes. (22000044)
2012
9
White matter impairment in the basal ganglia-thalamocortical circuit of drug-naA^ve childhood absence epilepsy. (22227509)
2012
10
Focal and generalized EEG paroxysms in childhood absence epilepsy: topographic associations and distinctive behaviors during the first cycle of non-REM sleep. (22360352)
2012
11
Automatic detection of childhood absence epilepsy seizures: toward a monitoring device. (22520349)
2012
12
Early-onset childhood absence epilepsy: is it a distinct entity? (22258046)
2011
13
A pilot study of topiramate in childhood absence epilepsy. (20219018)
2011
14
Interictal paroxysmal EEG abnormalities in childhood absence epilepsy. (21282069)
2011
15
Symptoms of anxiety and depression in childhood absence epilepsy. (21635244)
2011
16
Treatment of childhood absence epilepsy-an evidence-based answer at last! (21852860)
2011
17
Differentiation of attention-related problems in childhood absence epilepsy. (20674507)
2010
18
When the past challenges the present: are older antiepileptic drugs still the best choice in childhood absence epilepsy? (20398853)
2010
19
Polyspike and waves do not predict generalized tonic-clonic seizures in childhood absence epilepsy. (20382952)
2010
20
Dysfunction of executive and related processes in childhood absence epilepsy. (20656561)
2010
21
Gastaut type-idiopathic childhood occipital epilepsy and childhood absence epilepsy: a clinically significant association? (20471287)
2010
22
Distinguishing childhood absence epilepsy patients from controls by the analysis of their background brain electrical activity (II): a combinatorial optimization approach for electrode selection. (19445963)
2009
23
Idiopathic generalized epilepsy (IGE) syndromes in development: IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences. (19469842)
2009
24
Childhood absence epilepsy in patients with benign focal epileptiform discharges. (19931164)
2009
25
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. (19837565)
2009
26
Long-term outcome of childhood absence epilepsy: Dutch Study of Epilepsy in Childhood. (19124226)
2009
27
Risk factors for valproic acid resistance in childhood absence epilepsy. (19836978)
2009
28
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (18514161)
2008
29
Multi-site voxel-based morphometry: methods and a feasibility demonstration with childhood absence epilepsy. (18585930)
2008
30
Neuropsychiatric comorbidities in childhood absence epilepsy. (19015658)
2008
31
Childhood absence epilepsy: behavioral, cognitive, and linguistic comorbidities. (18557780)
2008
32
Childhood absence epilepsy requiring more than one medication for seizure control. (18714796)
2008
33
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
34
Linkage and association analysis of CACNG3 in childhood absence epilepsy. (17264864)
2007
35
Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy. (16529636)
2006
36
Childhood absence epilepsy: evolution and prognostic factors. (16302860)
2005
37
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. (15888660)
2005
38
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
39
Association between genetic variation of CACNA1H and childhood absence epilepsy. (12891677)
2003
40
The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population. (12770685)
2003
41
Case-control study and transmission/disequilibrium test of childhood absence epilepsy]. (12048673)
2002
42
Temporal relationship of generalized epileptiform discharges to spindle frequency activity in childhood absence epilepsy. (11595151)
2001
43
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. (10995568)
2000
44
Ictal and interictal SPECT findings in childhood absence epilepsy. (10880286)
2000
45
Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. (10510981)
1999
46
JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. (9675132)
1998
47
Long-term prognosis of typical childhood absence epilepsy. (9339731)
1997
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

Expression for genes affiliated with Childhood Absence Epilepsy

Sources:
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

Sources:
50PharmGKB, 53R&D Systems, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 60Tocris Bioscience, 52QIAGEN, 30KEGG
See all sources

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
Hide members
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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

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

(show top 50)    (show all 104)
idCompoundScoreTop Affiliating Genes
1flumazenil45 29 1112.2GABRA5, GABRA1, GABRG2
2kurtoxin2910.2CACNA1G, CACNA1H, CACNA1I
3sb2097122910.2CACNA1G, CACNA1H, CACNA1I
4Ethchlorvynol1110.2GABRB3, GABRA1, GABRA5
5Halazepam1110.2GABRA1, GABRB3, GABRG2, GABRA5
6(-)-bicuculline methiodide6010.2GABRA5, GABRB3, GABRA1, GABRG2
7Cinolazepam1110.2GABRA5, GABRA1, GABRG2, GABRB3
8sr 95531 hydrobromide6010.2GABRA1, GABRG2, GABRB3, GABRA5
9Fludiazepam1110.2GABRA5, GABRB3, GABRG2, GABRA1
10(-)-bicuculline methochloride6010.2GABRA5, GABRA1, GABRG2, GABRB3
11(+)-bicuculline6010.2GABRA5, GABRA1, GABRG2, GABRB3
12Prazepam1110.2GABRA5, GABRG2, GABRB3, GABRA1
13Adinazolam1110.2GABRA5, GABRB3, GABRG2, GABRA1
14estazolam45 1111.2GABRB3, GABRA5, GABRA1, GABRG2
15quazepam45 1111.2GABRB3, GABRA1, GABRG2, GABRA5
16Metharbital1110.2GABRA1, GABRA5, CHRNA4
17Clotiazepam1110.2GABRB3, GABRA1, GABRA5, GABRG2
18Clorazepate1110.2GABRG2, GABRA5, GABRB3, GABRA1
19Heptabarbital1110.2CHRNA4, GABRA5, GABRA1
20bromazepam45 1111.1GABRB3, GABRA1, GABRA5, GABRG2
21nitrazepam45 1111.1GABRB3, GABRA5, GABRG2, GABRA1
22flurazepam45 1111.1GABRG2, GABRB3, GABRA5, GABRA1
23Aprobarbital1110.1GABRA1, CHRNA4, GABRA5
24ni2+2910.1CACNA1I, CACNA1H, CACNA1G
25Temazepam1110.1GABRG2, GABRB3, GABRA1, GABRA5
26lorazepam45 50 1112.1GABRB3, GABRA5, GABRG2, GABRA1
27chlordiazepoxide45 1111.1GABRG2, GABRA1, GABRB3, GABRA5
28Talbutal1110.1CHRNA4, GABRA1, GABRA5
29clobazam45 50 1112.1GABRA5, GABRA1, GABRG2, GABRB3
30oxazepam50 1111.1GABRB3, GABRG2, GABRA1, GABRA5
31pentobarbital45 1111.1GABRA5, GABBR1, GABRA1, CHRNA4
32tbps45 2911.1GABRB3, GABRG2, GABRA1, GABRA5
33Butethal1110.1CHRNA4, GABRA1, GABRA5
34triazolam45 1111.1GABRB3, GABRG2, GABRA5, GABRA1
35alprazolam45 1111.1GABRA1, GABRB3, GABRG2, GABRA5
36Butabarbital1110.1GABRA5, GABRA1, CHRNA4
37picrotoxin45 29 1112.1GABRA5, GABBR1, GABRA1, GABRB3
38midazolam45 50 1112.0GABRA5, GABRA1, GABRG2, GABRB3
39Barbituric acid derivative1110.0CHRNA4, GABRA1, GABRA5
40clonazepam45 1111.0GABRA5, GABRG2, GABRB3, GABRA1, GABBR1
41muscimol45 60 2912.0GABRB3, GABBR1, GABRG2, GABRA5, GABRA1
42diazepam45 50 29 1113.0GABRA1, GABRG2, GABRB3, GABBR1, GABRA5
43Butalbital1110.0CHRNA4, GABRA1, GABRA5
44anandamide45 29 60 2412.9CACNA1I, KCNK9, CACNA1G, CACNA1H
45Barbital119.9CHRNA4, GABRA1, GABRA5
46mibefradil dihydrochloride609.8CACNA1I, CACNA1H, CACNA1G
47amobarbital45 1110.8GABRA1, GABRA5, CHRNA4
48chlorine45 2410.8GABRA5, GABRB3, HCN2, GABRA1, CLCN2, GABRG2
49gaba459.5GABRA1, GRM2, GRIK1, GABRB3, GABBR1, GABRG2
50omega-conotoxin gvia609.5CACNA1I, CACNA1G, CACNA1H

GO Terms for genes affiliated with Childhood Absence Epilepsy

Sources:
16Gene Ontology
See all sources

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

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

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:05193210.4GABRA1, GABRG2
2regulation of inhibitory postsynaptic membrane potentialGO:06008010.3GRIK1, CHRNA4
3inner ear receptor cell developmentGO:06011910.2GABRB3, GABRA5
4cochlea developmentGO:09010210.1KCNK9, GABRB3, GABRA5
5innervationGO:06038410.1GABRB3, GABRA5
6calcium ion importGO:07050910.0CACNA1H, CACNA1G
7negative regulation of adenylate cyclase activityGO:00719410.0GABBR1, GRM2
8gamma-aminobutyric acid signaling pathwayGO:00721410.0GABRA5, GABRG2, GABBR1, GABRA1
9regulation of membrane potentialGO:04239110.0HCN2, CHRNA4, CACNA1H, CACNA1G
10calcium ion transportGO:0068169.8CACNA1I, CACNG3, CHRNA4
11adult behaviorGO:0305349.8GRIK1, GABRG2
12ion transmembrane transportGO:0342209.8CLCN2, GABRA5, GABRA1, GABRB3, GABRG2
13transmembrane transportGO:0550859.7GABRA5, GABRA1, GABRG2, CLCN2, GABRB3
14transportGO:0068109.0CACNA1H, CACNA1I, CLCN2, GRIK1, GABRB3, GABRG2
15synaptic transmissionGO:0072688.4HCN2, GRM2, GRIK1, CHRNA4, GABRB3, KCNK9

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet