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 clonazepam and ethosuximide 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:00053899.1GABRA1, GABRG2, GABRB3, HCN2, CLCN2, KHDRBS3
2MP:00030128.9KCNK9, CACNA1G, GABRA5, GABRA1, GABRB3, CHRNA4
3MP:00053788.2CACNA1G, CACNA1H, CACNG3, GABBR1, GABRA1, GABRG2
4MP:00036317.5LGI4, KCNK9, CACNA1G, CACNA1H, CACNG3, GABBR1
5MP:00053867.5GABRG2, GABRA1, GABRA5, GABBR1, CACNG3, CACNA1G

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
Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. (24089388)
2013
2
Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. (23167925)
2013
3
Altered resting-state connectivity during interictal generalized spike-wave discharges in drug-naA^ve childhood absence epilepsy. (22431250)
2013
4
Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome. (23719147)
2013
5
Childhood absence epilepsy: poor attention is more than seizures. (24166970)
2013
6
New analysis workflow for MALDI imaging mass spectrometry: application to the discovery and identification of potential markers of childhood absence epilepsy. (22994238)
2012
7
Deep white matter track record of functional integrity in childhood absence epilepsy. (23447721)
2012
8
Early-onset versus typical childhood absence epilepsy: are they all the same thing? (22459314)
2012
9
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated I^2 subunit. (22539854)
2012
10
Cortical and thalamic resting-state functional connectivity is altered in childhood absence epilepsy. (22281064)
2012
11
Atypical childhood absence epilepsy with preceding or simultaneous generalized tonic clonic seizures. (21041049)
2011
12
Localization of epileptic foci in Children with childhood absence epilepsy by magnetoencephalography combined with synthetic aperture magnetometry. (23554699)
2011
13
Fluctuating concepts of childhood absence epilepsy. (21646621)
2011
14
Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy. (21752671)
2011
15
Childhood absence epilepsy: Elctroclinical features and diagnostic criteria. (20378290)
2011
16
Resting functional connectivity between the hemispheres in childhood absence epilepsy. (21646622)
2011
17
News on treatment: from antiepileptics in childhood absence epilepsy to improvement of falls in Parkinson's disease by deep brain stimulation. (20300764)
2010
18
Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. (20200383)
2010
19
Familial form of typical childhood absence epilepsy in a consanguineous context. (20561025)
2010
20
Ethosuximide in childhood absence epilepsy--older and better. (20200390)
2010
21
Frontal and temporal volumes in Childhood Absence Epilepsy. (19624714)
2009
22
Amygdala volumes in childhood absence epilepsy. (19766541)
2009
23
Distinguishing childhood absence epilepsy patients from controls by the analysis of their background brain electrical activity. (19013193)
2009
24
Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations. (18524634)
2008
25
Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. (17156077)
2007
26
Familial occurrence of early-onset childhood absence epilepsy. (17267250)
2007
27
Thalamic atrophy in childhood absence epilepsy. (16499767)
2006
28
Evaluation of CACNA1H in European patients with childhood absence epilepsy. (16504478)
2006
29
Electroclinical features of absence seizures in childhood absence epilepsy. (16894100)
2006
30
Pharmacological treatment of childhood absence epilepsy. (16784409)
2006
31
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. (16835263)
2006
32
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. (14505228)
2004
33
Lamotrigine as first-line drug in childhood absence epilepsy: a clinical and neurophysiological study. (14729411)
2004
34
Long-term prognosis for childhood and juvenile absence epilepsy. (15503104)
2004
35
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. (14729682)
2004
36
T-Channel Defects in Patients with Childhood Absence Epilepsy. (15346133)
2004
37
T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population. (12676336)
2003
38
Brain single photon emission computed tomographic evaluation of patients with childhood absence epilepsy. (13677580)
2003
39
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. (12477709)
2003
40
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. (12117362)
2002
41
Association analysis of childhood absence epilepsy by microsatellite DNA]. (12194792)
2002
42
Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. (11904235)
2002
43
Childhood absence epilepsy: genes, channels, neurons and networks. (11988776)
2002
44
Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy. (12384214)
2002
45
T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients. (11463515)
2001
46
Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. (10514826)
1999
47
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. (9758624)
1998
48
Long-term prognosis of typical childhood absence epilepsy: remission or progression to juvenile myoclonic epilepsy. (8857718)
1996
49
Brain electrical activity mapping in childhood absence epilepsy. (8167993)
1994
50
Sleep architecture and childhood absence epilepsy. (1418483)
1992

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
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9.6GABRA5, GABRA1, GABRG2, GABRB3, CLCN2
23
Hide members
9.6GABBR1, GABRA5, GABRA1, GABRG2, GABRB3
24
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9.6GABBR1, GABRA5, GABRA1, GABRG2, GABRB3
25
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9.2KCNK9, CACNA1G, CACNA1H, CACNA1I, CACNG3, CLCN2
26
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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 1112.2GABRA1, GABRA5, GABRG2
2kurtoxin2810.2CACNA1H, CACNA1I, CACNA1G
3sb2097122810.2CACNA1G, CACNA1H, CACNA1I
4Ethchlorvynol1110.2GABRA5, GABRA1, GABRB3
5Halazepam1110.2GABRB3, GABRA1, GABRG2, GABRA5
6Cinolazepam1110.2GABRB3, GABRG2, GABRA1, GABRA5
7(-)-bicuculline methiodide5910.2GABRA5, GABRB3, GABRA1, GABRG2
8sr 95531 hydrobromide5910.2GABRB3, GABRA5, GABRG2, GABRA1
9Fludiazepam1110.2GABRA5, GABRB3, GABRG2, GABRA1
10(+)-bicuculline5910.2GABRA5, GABRG2, GABRB3, GABRA1
11(-)-bicuculline methochloride5910.2GABRB3, GABRG2, GABRA1, GABRA5
12Prazepam1110.2GABRA5, GABRG2, GABRB3, GABRA1
13Adinazolam1110.2GABRA5, GABRA1, GABRG2, GABRB3
14estazolam44 1111.2GABRB3, GABRG2, GABRA1, GABRA5
15quazepam44 1111.2GABRA5, GABRA1, GABRG2, GABRB3
16Butethal1110.2GABRA5, CHRNA4, GABRA1
17Clotiazepam1110.2GABRA5, GABRB3, GABRG2, GABRA1
18Clorazepate1110.2GABRA5, GABRA1, GABRG2, GABRB3
19Metharbital1110.2GABRA5, GABRA1, CHRNA4
20bromazepam44 1111.1GABRA5, GABRA1, GABRG2, GABRB3
21nitrazepam44 1111.1GABRA5, GABRB3, GABRG2, GABRA1
22Temazepam1110.1GABRA1, GABRA5, GABRB3, GABRG2
23Barbital1110.1GABRA1, CHRNA4, GABRA5
24flurazepam44 1111.1GABRA1, GABRG2, GABRB3, GABRA5
25lorazepam44 49 1112.1GABRA5, GABRA1, GABRB3, GABRG2
26ni2+2810.1CACNA1G, CACNA1H, CACNA1I
27chlordiazepoxide44 1111.1GABRB3, GABRG2, GABRA5, GABRA1
28Aprobarbital1110.1GABRA5, GABRA1, CHRNA4
29clobazam44 49 1112.1GABRG2, GABRA5, GABRB3, GABRA1
30oxazepam49 1111.1GABRB3, GABRG2, GABRA1, GABRA5
31pentobarbital44 1111.1GABBR1, GABRA5, GABRA1, CHRNA4
32tbps44 2811.1GABRA5, GABRG2, GABRB3, GABRA1
33triazolam44 1111.1GABRB3, GABRG2, GABRA5, GABRA1
34Talbutal1110.1CHRNA4, GABRA1, GABRA5
35alprazolam44 1111.1GABRA5, GABRG2, GABRB3, GABRA1
36Barbituric acid derivative1110.1GABRA1, GABRA5, CHRNA4
37picrotoxin44 28 1112.0GABRB3, GABRA1, GABRA5, GABBR1
38midazolam44 49 1112.0GABRG2, GABRB3, GABRA5, GABRA1
39Butalbital1110.0CHRNA4, GABRA1, GABRA5
40clonazepam44 1111.0GABRA1, GABRG2, GABRA5, GABBR1, GABRB3
41muscimol44 59 2812.0GABBR1, GABRA1, GABRB3, GABRG2, GABRA5
42diazepam44 49 28 1113.0GABBR1, GABRA5, GABRA1, GABRG2, GABRB3
43Butabarbital1110.0GABRA5, GABRA1, CHRNA4
44anandamide44 28 59 2412.9CACNA1I, KCNK9, CACNA1H, CACNA1G
45Heptabarbital119.9CHRNA4, GABRA1, GABRA5
46Methylphenobarbital119.9CHRNA4, GABRA1, GABRA5
47chlorine44 2410.8GABRA5, CLCN2, GABRG2, GABRB3, GABRA1, HCN2
48nnc 55-0396 dihydrochloride599.7CACNA1I, CACNA1G, CACNA1H
49gaba449.5GABBR1, GABRA1, GABRG2, GABRB3, GRIK1, GRM2
50(+-)-bay k 8644599.5CACNA1I, CACNA1H, CACNA1G

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