MCID: CHL002
MIFTS: 59

Childhood Absence Epilepsy malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Childhood Absence Epilepsy

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Disease Ontology:10 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 based summary: Childhood Absence Epilepsy, also known as pyknolepsy, is related to febrile seizures and frontal lobe 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 Calcium channels. The drugs sodium valproate and valproic acid and the compounds progabide and [11c]flumazenil 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 reproductive system.

Wikipedia:65 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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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 28ICD10 via Orphanet
See all sources

Childhood Absence Epilepsy, Aliases & Descriptions:

Name: Childhood Absence Epilepsy 10 12 45 49 62
Pyknolepsy 10 49
Petit Mal Seizure 10
 
Petit-Mal Seizure 62
Absence Epilepsy 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
childhood absence epilepsy:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology10 DOID:1825
MeSH35 D004832
Orphanet49 64280
ICD10 via Orphanet28 G40.3

Related Diseases for Childhood Absence Epilepsy

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Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 2 Epilepsy, Childhood Absence 5
Epilepsy, Childhood Absence 6

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1febrile seizures30.6CHRNA4, GABRG2
2frontal lobe epilepsy30.4GABRG2, CHRNA4
3epilepsy, idiopathic generalized30.3CHRNA4, CACNA1H, GABRG2, GABBR1
4juvenile absence epilepsy30.3GABRB3, KCNK9, GABRA1, GABRG2, CACNA1H, CLCN2
5focal epilepsy30.2GABRG2, CHRNA4
6epilepsy, generalized, with febrile seizures plus, type 530.1CHRNA4, GABRA1, GABRG2, GABBR1
7epilepsy, childhood absence 610.3
8epilepsy, juvenile myoclonic 510.3
9neuronitis10.3
10benign epilepsy with centrotemporal spikes10.3
11glut1 deficiency syndrome 210.1
12megaloblastic anemia due to dihydrofolate reductase deficiency10.1
13epilepsy, generalized, with febrile seizures plus, type 310.1
14west syndrome10.1
15periventricular nodular heterotopia10.1
16myoclonus epilepsy10.1
17myoclonus10.1
18blindness10.1
19dravet syndrome10.0GABRG2
20convulsions benign familial neonatal dominant form10.0GABRG2, CHRNA4
21early myoclonic encephalopathy10.0CHRNA4, GABRG2
22toxic encephalopathy10.0CHRNA4, GRIK1
23prader-willi syndrome10.0GABRB3, NIPA2
24angelman syndrome10.0NIPA2, GABRB3
25autistic disorder10.0GABRB3, GRIK1
26mood disorder10.0GABRA1, GABBR1
27temporal lobe epilepsy10.0GRIK1, GABBR1
28schizophrenia9.9SLC2A1, CHRNA4, GRIK1, GABRG2, GABBR1
29epilepsy syndrome9.9CLCN2, CHRNA4, GRIK1, GABRA1, SLC2A1, GABRB3

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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Drug clinical trials:

Search ClinicalTrials for Childhood Absence Epilepsy

Search NIH Clinical Center for Childhood Absence Epilepsy

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Childhood Absence Epilepsy

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Anatomical Context for Childhood Absence Epilepsy

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MalaCards organs/tissues related to Childhood Absence Epilepsy:

33
Brain, Testes, Amygdala

Animal Models for Childhood Absence Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.7CHRNA4, GABRA1, GABRB3, SLC2A1, KCNK9
2MP:00053898.4GABBR1, GABRA1, GABRG2, CLCN2, GABRB3
3MP:00028738.2GABRA1, KCNK9, GABRG2, GRIK1, GABRB3, GABRA6
4MP:00053787.7GABBR1, CACNA1H, GRIK1, GABRA1, GABRB3, SLC2A1
5MP:00053767.2KCNK9, SLC2A1, GABBR1, GABRA6, GABRA1, GABRG2
6MP:00053866.9GABRG2, SLC2A1, GABRB3, GABBR1, GABRA6, GABRA1
7MP:00036316.2KCNK9, SLC2A1, GABRB3, GABBR1, GABRA6, CLCN2

Publications for Childhood Absence Epilepsy

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Articles related to Childhood Absence Epilepsy:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
Altered intrinsic functional connectivity of the salience network in childhood absence epilepsy. (24642509)
2014
2
Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy. (25347071)
2014
3
Diffusion tensor tractography reveals disrupted structural connectivity in childhood absence epilepsy. (24246142)
2014
4
NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population. (24500577)
2014
5
Altered spontaneous activity in treatment-naive childhood absence epilepsy revealed by Regional Homogeneity. (24746024)
2014
6
Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. (24089388)
2013
7
Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. (23167925)
2013
8
Assessment of control in typical childhood absence epilepsy. (23529908)
2013
9
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
10
Long-term effectiveness of ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. (21893390)
2012
11
Mutation Screening of the I^-Aminobutyric Acid Type-A Receptor Subunit I^2 Gene in Korean Patients with Childhood Absence Epilepsy. (23323135)
2012
12
Impaired attention and network connectivity in childhood absence epilepsy. (21421063)
2011
13
Effects of childhood absence epilepsy on associations between regional cortical morphometry and aging and cognitive abilities. (21391248)
2011
14
Atypical childhood absence epilepsy with preceding or simultaneous generalized tonic clonic seizures. (21041049)
2011
15
The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6I^22 and 6I^2 GABA(A) receptor channel gating and expression. (21930603)
2011
16
Differentiation of attention-related problems in childhood absence epilepsy. (20674507)
2010
17
Paroxysmal tonic upgaze of childhood and childhood absence epilepsy. (19589711)
2010
18
Childhood absence epilepsy as a manifestation of GLUT1 deficiency. (20225310)
2010
19
When the past challenges the present: are older antiepileptic drugs still the best choice in childhood absence epilepsy? (20398853)
2010
20
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
21
Frontal and temporal volumes in Childhood Absence Epilepsy. (19624714)
2009
22
Childhood absence epilepsy in patients with benign focal epileptiform discharges. (19931164)
2009
23
Amygdala volumes in childhood absence epilepsy. (19766541)
2009
24
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (18514161)
2008
25
Multi-site voxel-based morphometry: methods and a feasibility demonstration with childhood absence epilepsy. (18585930)
2008
26
Neuropsychiatric comorbidities in childhood absence epilepsy. (19015658)
2008
27
Childhood absence epilepsy with clinically apparent genetic and acquired burdens: a diagnostic consideration. (18079316)
2008
28
Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. (17156077)
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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Search GEO for disease gene expression data for Childhood Absence Epilepsy.

Pathways for genes affiliated with Childhood Absence Epilepsy

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GABRA1, GABRG2
29.8CHRNA4, CACNA1H
3
Show member pathways
Nicotine Activity on Dopaminergic Neurons38
9.7KCNK9, CHRNA4
49.6SLC2A1, GABBR1
5
Show member pathways
9.1GABRA6, GABRA1, GABRG2, GABRB3
6
Show member pathways
9.1GABRA1, GABRA6, GABRB3, GABRG2
7
Show member pathways
9.1GABRA1, GABRB3, GABRG2, GABRA6
88.7GABRG2, GABRA1, GABRA6, CHRNA4, GABRB3
9
Show member pathways
8.5GABBR1, GABRA6, GABRA1, GABRG2, GABRB3
10
Show member pathways
8.5GABRB3, GABBR1, GABRA6, GABRA1, GABRG2
11
Show member pathways
8.4CLCN2, GABRA6, GABRA1, GABRG2, GABRB3
12
Show member pathways
8.4CACNA1H, GABRA1, GABRB3, GABRA6, KCNK9, GABRG2
13
Show member pathways
8.1CLCN2, GABRG2, GABRA1, GABRA6, SLC2A1, GABRB3
14
Show member pathways
7.7CHRNA4, GRIK1, GABRG2, GABRA1, GABRA6, GABBR1
15
Show member pathways
7.5CHRNA4, GABBR1, GABRB3, GRIK1, GABRG2, GABRA1
16
Show member pathways
7.3CHRNA4, GABBR1, GABRB3, GABRA6, GABRA1, GABRG2

Compounds for genes affiliated with Childhood Absence Epilepsy

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

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1progabide45 1311.0GABBR1, GABRA1
2[11c]flumazenil3010.0GABRA6, GABRA1
35alpha-pregnan-3alpha-ol-20-one3010.0GABRA1, GABRA6
4[35s]tbps3010.0GABRA6, GABRA1
5[3h]muscimol3010.0GABRA1, GABRA6
6[3h]cgs82163010.0GABRA1, GABRA6
7estazolam45 1311.0GABRB3, GABRG2, GABRA1
8[3h]gabazine3010.0GABRA6, GABRA1
9quazepam45 1310.9GABRG2, GABRA1, GABRB3
10ro154513309.9GABRA1, GABRA6
11gabazine309.9GABRA6, GABRA1
12[18f]fluoroethylflumazenil309.9GABRA1, GABRA6
13tetrahydrodeoxycorticosterone30 4510.9GABRA6, GABRA1
14etomidate45 1310.9SLC2A1, GABRA1
15bretazenil30 4510.9GABRA6, GABRA1
16flumazenil30 45 1311.8GABRA1, GABRA6, GABRG2
17isoguvacine309.8GABRA1, GABRA6
18picrotoxin45 30 1311.7GABRA1, GABRB3, GABBR1
19amobarbital45 1310.7GABRA1, GABRA6, CHRNA4
20thip309.7GABRA6, GABRA1
21primidone45 1310.7CHRNA4, GABRA1, GABRA6
22hexobarbital45 1310.7GABRA6, GABRA1, CHRNA4
23thiopental45 1310.7CHRNA4, GABRA6, GABRA1
24isonipecotic acid309.6GABRA6, GABRA1
25bicuculline45 3010.5GABRA6, GABRA1, GABBR1
26(-)-bicuculline methiodide619.5GABRG2, GABRA1, GABRA6, GABRB3
27sr 95531 hydrobromide619.5GABRG2, GABRA1, GABRA6, GABRB3
28(-)-bicuculline methochloride619.5GABRB3, GABRA6, GABRA1, GABRG2
29(+)-bicuculline619.5GABRB3, GABRA6, GABRG2, GABRA1
30nitrazepam45 1310.5GABRG2, GABRA1, GABRB3, GABRA6
31bromazepam45 1310.5GABRA1, GABRB3, GABRG2, GABRA6
32lorazepam45 51 1311.5GABRA6, GABRA1, GABRG2, GABRB3
33flurazepam45 1310.5GABRA6, GABRA1, GABRG2, GABRB3
34chlordiazepoxide45 1310.5GABRG2, GABRA1, GABRA6, GABRB3
35oxazepam51 1310.5GABRB3, GABRG2, GABRA6, GABRA1
36clonazepam45 1310.5GABRB3, GABBR1, GABRA1, GABRG2
37tbps45 3010.5GABRB3, GABRA6, GABRA1, GABRG2
38triazolam45 1310.5GABRA1, GABRG2, GABRA6, GABRB3
39phenobarbital45 30 51 1312.5GABRA6, CHRNA4, GABRA1
40clobazam45 51 1311.5GABRA6, GABRB3, GABRG2, GABRA1
41alprazolam45 1310.5GABRB3, GABRG2, GABRA1, GABRA6
42midazolam45 51 1311.5GABRB3, GABRA6, GABRG2, GABRA1
43piperidine-4-sulphonic acid309.4GABRA1, GABRA6
44diazepam45 30 51 1312.2GABBR1, SLC2A1, GABRA1, GABRB3, GABRG2
45muscimol45 61 3011.0GABBR1, GABRB3, GABRG2, GABRA1, GABRA6
46Gamma-Aminobutyric acid269.0GABRB3, GABRA6, GABBR1, GABRA1, GABRG2
47potassium45 26 1311.0GABBR1, KCNK9, CHRNA4, GABRG2
48pentobarbital45 139.9CHRNA4, GABRA1, GABRA6, GABBR1, SLC2A1
49chlorine45 269.8GABRB3, CLCN2, GABRG2, GABRA6, GABRA1
50gaba458.2GRIK1, GABRG2, GABRA1, GABBR1, GABRB3, SLC2A1

GO Terms for genes affiliated with Childhood Absence Epilepsy

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

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.9SLC2A1, CACNA1H
2presynaptic membraneGO:00427349.2GABBR1, GRIK1
3dendriteGO:00304259.0CHRNA4, GRIK1, GABBR1
4chloride channel complexGO:00347078.6CLCN2, GABRG2, GABRA1, GABRA6, GABRB3
5integral component of plasma membraneGO:00058878.1GRIK1, GABRG2, GABRA1, GABRA6, GABBR1, GABRB3
6postsynaptic membraneGO:00452117.9GABRB3, GABBR1, GABRA6, GABRA1, GABRG2, GRIK1
7cell junctionGO:00300547.8CHRNA4, GRIK1, GABRG2, GABRA1, GABRA6, GABBR1
8plasma membraneGO:00058865.6KCNK9, CLCN2, CHRNA4, GRIK1, GABRG2, GABRA1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, GABAergicGO:005193210.0GABRA1, GABRG2
2regulation of membrane potentialGO:00423919.8CACNA1H, CHRNA4
3regulation of inhibitory postsynaptic membrane potentialGO:00600809.6CHRNA4, GRIK1
4cochlea developmentGO:00901029.6GABRB3, KCNK9
5adult behaviorGO:00305349.4GABRG2, GRIK1
6gamma-aminobutyric acid signaling pathwayGO:00072149.0GABRG2, GABRA1, GABRA6, GABBR1
7transmembrane transportGO:00550858.2CLCN2, GABRG2, GABRA1, GABRA6, GABRB3, SLC2A1
8transportGO:00068107.9CLCN2, CACNA1H, GRIK1, GABRG2, GABRA1, GABRA6
9ion transmembrane transportGO:00342207.8GABRB3, CLCN2, CHRNA4, GRIK1, GABRG2, GABRA1
10synaptic transmissionGO:00072687.5KCNK9, CHRNA4, GRIK1, GABRG2, GABRA1, GABRA6

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

idNameGO IDScoreTop Affiliating Genes
1benzodiazepine receptor activityGO:00085039.7GABRA6, GABRG2
2GABA-A receptor activityGO:00048909.1GABRB3, GABRA6, GABRA1, GABRG2
3extracellular ligand-gated ion channel activityGO:00052309.0GABRG2, GABRA1, GABRA6, GABRB3
4chloride channel activityGO:00052548.8GABRB3, GABRA6, GABRA1, GABRG2

Products for genes affiliated with Childhood Absence Epilepsy

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Sources for Childhood Absence Epilepsy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet