MCID: CHL002
MIFTS: 54

Childhood Absence Epilepsy malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Childhood Absence Epilepsy

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 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 idiopathic generalized 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 Calcium channels and SIDS Susceptibility Pathways. The drugs clonazepam and ethosuximide and the compounds amobarbital and primidone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and amygdala, and related mouse phenotypes are no phenotypic analysis and growth/size/body.

Wikipedia:66 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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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH
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Classifications:

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


Aliases & Descriptions:

childhood absence epilepsy 9 11 46
petit mal seizure 9
absence epilepsy 63
pyknolepsy 9


Related Diseases for Childhood Absence Epilepsy

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Childhood Absence Epilepsy:



Diseases related to childhood absence epilepsy

Symptoms for Childhood Absence Epilepsy

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Drugs & Therapeutics for Childhood Absence Epilepsy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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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 UMLS63/NDF-RT42:

Genetic Tests for Childhood Absence Epilepsy

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Anatomical Context for Childhood Absence Epilepsy

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34MalaCards
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MalaCards organs/tissues related to Childhood Absence Epilepsy:

34
Brain, Testes, Amygdala

Animal Models for Childhood Absence Epilepsy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4GABRB3, GABRA1, CHRNA4
2MP:00053788.2GABRB3, GABRA1, GABRG2, CACNA1H
3MP:00053868.0CHRNA4, GABRG2, GABRA1, GABRB3
4MP:00036317.6GABRB3, GABRA1, GABRG2, CACNA1H, CHRNA4

Publications for Childhood Absence Epilepsy

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53PubMed
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Articles related to Childhood Absence Epilepsy:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
Diffusion tensor tractography reveals disrupted structural connectivity in childhood absence epilepsy. (24246142)
2014
2
Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. (24089388)
2013
3
Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. (23167925)
2013
4
Assessment of control in typical childhood absence epilepsy. (23529908)
2013
5
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
6
Long-term effectiveness of ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. (21893390)
2012
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
New analysis workflow for MALDI imaging mass spectrometry: application to the discovery and identification of potential markers of childhood absence epilepsy. (22994238)
2012
9
Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes. (22000044)
2012
10
Impaired attention and network connectivity in childhood absence epilepsy. (21421063)
2011
11
Effects of childhood absence epilepsy on associations between regional cortical morphometry and aging and cognitive abilities. (21391248)
2011
12
Atypical childhood absence epilepsy with preceding or simultaneous generalized tonic clonic seizures. (21041049)
2011
13
The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6I^22 and 6I^2 GABA(A) receptor channel gating and expression. (21930603)
2011
14
Early-onset childhood absence epilepsy: is it a distinct entity? (22258046)
2011
15
Differentiation of attention-related problems in childhood absence epilepsy. (20674507)
2010
16
Paroxysmal tonic upgaze of childhood and childhood absence epilepsy. (19589711)
2010
17
Childhood absence epilepsy as a manifestation of GLUT1 deficiency. (20225310)
2010
18
When the past challenges the present: are older antiepileptic drugs still the best choice in childhood absence epilepsy? (20398853)
2010
19
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
20
Frontal and temporal volumes in Childhood Absence Epilepsy. (19624714)
2009
21
Childhood absence epilepsy in patients with benign focal epileptiform discharges. (19931164)
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
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (18514161)
2008
25
Neuropsychiatric comorbidities in childhood absence epilepsy. (19015658)
2008
26
Childhood absence epilepsy with clinically apparent genetic and acquired burdens: a diagnostic consideration. (18079316)
2008
27
Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. (17156077)
2007
28
Familial occurrence of early-onset childhood absence epilepsy. (17267250)
2007
29
Thalamic atrophy in childhood absence epilepsy. (16499767)
2006
30
Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy. (16529636)
2006
31
Evaluation of CACNA1H in European patients with childhood absence epilepsy. (16504478)
2006
32
Electroclinical features of absence seizures in childhood absence epilepsy. (16894100)
2006
33
Childhood absence epilepsy: evolution and prognostic factors. (16302860)
2005
34
Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features. (15508924)
2005
35
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. (14505228)
2004
36
Lamotrigine as first-line drug in childhood absence epilepsy: a clinical and neurophysiological study. (14729411)
2004
37
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. (14729682)
2004
38
T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population. (12676336)
2003
39
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. (12117362)
2002
40
Association analysis of childhood absence epilepsy by microsatellite DNA]. (12194792)
2002
41
Temporal relationship of generalized epileptiform discharges to spindle frequency activity in childhood absence epilepsy. (11595151)
2001
42
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. (10995568)
2000
43
Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. (10510981)
1999
44
Periventricular nodular heterotopia and childhood absence epilepsy. (10328284)
1999
45
JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. (9675132)
1998
46
Sequential occurrence of benign partial epilepsy and childhood absence epilepsy in three patients. (8836503)
1996
47
Brain electrical activity mapping in childhood absence epilepsy. (8167993)
1994
48
Childhood absence epilepsy. (8039044)
1994
49
Sleep architecture and childhood absence epilepsy. (1418483)
1992
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

Variations for Childhood Absence Epilepsy

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Expression for genes affiliated with Childhood Absence Epilepsy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Childhood Absence Epilepsy

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Pathways for genes affiliated with Childhood Absence Epilepsy

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Sources:
51PathCards, 13EMD Millipore, 39NCBI BioSystems Database, 52PharmGKB, 56Reactome, 54QIAGEN, 62Tocris Bioscience, 55R&D Systems, 31KEGG
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Pathways related to Childhood Absence Epilepsy according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CACNA1H, CHRNA4
29.5GABRA1, CHRNA4
3
Show member pathways
9.4GABRG2, GABRA1
4
Show member pathways
8.6GABRB3, GABRA1, GABRG2
5
Show member pathways
8.6GABRB3, GABRA1, GABRG2
6
Show member pathways
8.6GABRB3, GABRA1, GABRG2
7
Show member pathways
8.6GABRG2, GABRA1, GABRB3
8
Show member pathways
8.6GABRG2, GABRA1, GABRB3
9
Show member pathways
8.6GABRG2, GABRA1, GABRB3
10
Show member pathways
8.6GABRG2, GABRA1, GABRB3
11
Show member pathways
8.2CACNA1H, GABRG2, GABRA1, GABRB3
12
Show member pathways
8.1GABRB3, GABRA1, GABRG2, CHRNA4
138.1GABRB3, GABRA1, GABRG2, CHRNA4
14
Show member pathways
8.1GABRB3, GABRA1, GABRG2, CHRNA4
15
Show member pathways
7.6CHRNA4, CACNA1H, GABRG2, GABRA1, GABRB3

Compounds for genes affiliated with Childhood Absence Epilepsy

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Childhood Absence Epilepsy according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1amobarbital46 1210.7GABRA1, CHRNA4
2primidone46 1210.6CHRNA4, GABRA1
3flumazenil30 46 1211.6GABRA1, GABRG2
4hexobarbital46 1210.6CHRNA4, GABRA1
5thiopental46 1210.5GABRA1, CHRNA4
6phenobarbital46 30 52 1212.5GABRA1, CHRNA4
7pentobarbital46 1210.4GABRA1, CHRNA4
8sr 95531 hydrobromide629.0GABRB3, GABRG2, GABRA1
9(+)-bicuculline629.0GABRG2, GABRA1, GABRB3
10(-)-bicuculline methochloride629.0GABRG2, GABRA1, GABRB3
11(-)-bicuculline methiodide629.0GABRG2, GABRA1, GABRB3
12estazolam46 1210.0GABRG2, GABRA1, GABRB3
13quazepam46 129.9GABRB3, GABRA1, GABRG2
14nitrazepam46 129.9GABRG2, GABRA1, GABRB3
15bromazepam46 129.9GABRG2, GABRA1, GABRB3
16flurazepam46 129.9GABRG2, GABRA1, GABRB3
17lorazepam46 52 1210.9GABRG2, GABRA1, GABRB3
18oxazepam52 129.9GABRG2, GABRA1, GABRB3
19chlordiazepoxide46 129.9GABRG2, GABRA1, GABRB3
20clonazepam46 129.9GABRG2, GABRA1, GABRB3
21picrotoxin46 30 1210.9GABRB3, GABRA1
22tbps46 309.9GABRG2, GABRA1, GABRB3
23muscimol46 62 3010.9GABRG2, GABRA1, GABRB3
24triazolam46 129.9GABRB3, GABRA1, GABRG2
25clobazam46 52 1210.9GABRG2, GABRA1, GABRB3
26alprazolam46 129.9GABRG2, GABRA1, GABRB3
27Gamma-Aminobutyric acid258.8GABRG2, GABRA1, GABRB3
28midazolam46 52 1210.8GABRB3, GABRA1, GABRG2
29diazepam46 30 52 1211.8GABRB3, GABRA1, GABRG2
30chlorine46 259.8GABRG2, GABRA1, GABRB3
31gaba468.7GABRB3, GABRA1, GABRG2

GO Terms for genes affiliated with Childhood Absence Epilepsy

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17Gene Ontology
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Cellular components related to Childhood Absence Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.6GABRB3, GABRA1, GABRG2
2chloride channel complexGO:0347078.5GABRB3, GABRA1, GABRG2
3postsynaptic membraneGO:0452118.1GABRB3, GABRA1, GABRG2, CHRNA4
4cell junctionGO:0300547.8CHRNA4, GABRG2, GABRA1, GABRB3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:0519329.5GABRA1, GABRG2
2gamma-aminobutyric acid signaling pathwayGO:0072149.3GABRA1, GABRG2
3regulation of membrane potentialGO:0423919.2CACNA1H, CHRNA4
4transmembrane transportGO:0550858.6GABRB3, GABRA1, GABRG2
5transportGO:0068108.3CACNA1H, GABRG2, GABRA1, GABRB3
6ion transmembrane transportGO:0342208.2GABRB3, GABRA1, GABRG2, CHRNA4
7synaptic transmissionGO:0072688.1CHRNA4, GABRG2, GABRA1, GABRB3

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052548.6GABRB3, GABRA1, GABRG2
2GABA-A receptor activityGO:0048908.5GABRB3, GABRA1, GABRG2
3extracellular ligand-gated ion channel activityGO:0052308.3GABRB3, GABRA1, GABRG2

Products for genes affiliated with Childhood Absence Epilepsy

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Sources for Childhood Absence Epilepsy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet