MCID: CHL002
MIFTS: 63

Childhood Absence Epilepsy

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Childhood Absence Epilepsy

MalaCards integrated aliases for Childhood Absence Epilepsy:

Name: Childhood Absence Epilepsy 12 43 58 36 29 54 6 15
Absence Seizures 29 54 6
Pyknolepsy 12 43 58
Absence Epilepsy, Childhood 43
Petit Mal Epilepsy 43
Petit Mal Seizure 12
Epilepsy, Absence 44
Absence Epilepsy 71
Absence Seizure 12
Pykno-Epilepsy 43

Characteristics:

Orphanet epidemiological data:

58
childhood absence epilepsy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Childhood Absence Epilepsy

MedlinePlus Genetics : 43 Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.Some affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.

MalaCards based summary : Childhood Absence Epilepsy, also known as absence seizures, is related to juvenile absence epilepsy and epilepsy, idiopathic generalized, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Childhood Absence Epilepsy is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3), and among its related pathways/superpathways are GABAergic synapse and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are eeg with spike-wave complexes (2.5-3.5 hz) and typical absence seizure

Disease Ontology : 12 A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.

KEGG : 36 Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences, which are brief episodes of loss of consciousness. It has been reported that mutations in several genes encoding subunits of the GABAA receptor are associated with this disease.

Wikipedia : 74 Childhood absence epilepsy (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which... more...

Related Diseases for Childhood Absence Epilepsy

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 6
Epilepsy, Childhood Absence 5

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

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 33.0 GABRG2 GABRB3 GABRA1 EFHC1 CHRNA4 CACNG3
2 epilepsy, idiopathic generalized 32.6 SLC2A1 SCN1B RORB PCDH19 JRK GABRG2
3 epilepsy, childhood absence 1 32.5 RORB GABRB3 ECA1 ATP10A
4 febrile seizures, familial, 8 32.4 SCN1B GABRG2
5 lennox-gastaut syndrome 32.3 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA5
6 epilepsy 32.2 SLC2A1 SCN1B RORB PCDH19 NUS1 JRK
7 generalized epilepsy with febrile seizures plus, type 1 31.8 SCN1B GABRG2
8 seizure disorder 31.6 SLC2A1 SCN1B PCDH19 GABRG2 GABRA1 FGFR3
9 focal epilepsy 31.3 SLC2A1 GABRG2 GABRA5 CHRNA4 CACNA1H
10 early myoclonic encephalopathy 31.2 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
11 benign epilepsy with centrotemporal spikes 31.2 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
12 epilepsy, myoclonic juvenile 31.2 SLC2A1 SCN1B PCDH19 JRK GABRG2 GABRB3
13 west syndrome 30.8 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
14 generalized epilepsy with febrile seizures plus 30.8 SCN1B PCDH19 GABRG2 GABRB3 GABRA6 GABRA5
15 epilepsy, childhood absence 5 30.8 GABRB3 ATP10A
16 alacrima, achalasia, and mental retardation syndrome 30.8 SLC2A1 NUS1 GABRG2 GABRB3 GABRA1 ATP10A
17 dystonia 30.7 SLC2A1 GABRG2 GABRB3 GABRA1 GABBR1
18 early onset absence epilepsy 30.6 SLC2A1 SCN1B GABRG2 GABRB3 GABRA1 EFHC1
19 dravet syndrome 30.6 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
20 angelman syndrome 30.6 GABRG2 GABRB3 GABRA5 GABRA1 ATP10A
21 epilepsy, familial temporal lobe, 1 30.4 SCN1B GABRG2 EFHC1
22 autism spectrum disorder 30.3 PCDH19 NUS1 GABRG2 GABRB3 GABRA5 CHRNA4
23 epilepsy, childhood absence 6 11.2
24 epilepsy, idiopathic generalized 13 11.2
25 glut1 deficiency syndrome 2 11.2
26 megaloblastic anemia due to dihydrofolate reductase deficiency 11.2
27 epilepsy, juvenile absence 1 11.0
28 epilepsy, idiopathic generalized 10 11.0
29 glycosylphosphatidylinositol biosynthesis defect 1 11.0
30 epilepsy, juvenile myoclonic 10 11.0
31 epilepsy, idiopathic generalized 15 11.0
32 genetic epilepsy with febrile seizures plus 11.0
33 status epilepticus 10.9
34 chd2-related neurodevelopmental disorders 10.9
35 spinal muscular atrophy with progressive myoclonic epilepsy 10.8
36 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.8
37 myoclonic epilepsy of lafora 10.8
38 neurodegeneration with brain iron accumulation 5 10.8
39 glut1 deficiency syndrome 1 10.8
40 lissencephaly 1 10.8
41 epilepsy, idiopathic generalized 11 10.8
42 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 10.8
43 epilepsy, idiopathic generalized 8 10.8
44 epilepsy, familial adult myoclonic, 3 10.8
45 epilepsy, idiopathic generalized 12 10.8
46 developmental and epileptic encephalopathy 19 10.8
47 myoclonic-atonic epilepsy 10.8
48 epilepsy, idiopathic generalized 14 10.8
49 epilepsy, idiopathic generalized 16 10.8
50 scn8a-related epilepsy with encephalopathy 10.8

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



Diseases related to Childhood Absence Epilepsy

Symptoms & Phenotypes for Childhood Absence Epilepsy

Human phenotypes related to Childhood Absence Epilepsy:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with spike-wave complexes (2.5-3.5 hz) 58 31 hallmark (90%) Very frequent (99-80%) HP:0010848
2 typical absence seizure 58 31 hallmark (90%) Very frequent (99-80%) HP:0011147
3 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
4 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
5 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
6 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
7 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
8 abnormal social behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0012433
9 dyslexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010522
10 hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002883
11 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
12 uncontrolled eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0007738
13 low self esteem 58 31 occasional (7.5%) Occasional (29-5%) HP:0031469
14 punding 58 31 occasional (7.5%) Occasional (29-5%) HP:0030218
15 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
16 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
17 myoclonic absence seizure 31 occasional (7.5%) HP:0011150
18 urinary incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0000020
19 jerky head movements 58 31 very rare (1%) Very rare (<4-1%) HP:0006961
20 limb myoclonus 58 31 very rare (1%) Very rare (<4-1%) HP:0045084
21 specific learning disability 58 Occasional (29-5%)
22 generalized tonic-clonic seizures 58 Occasional (29-5%)
23 febrile seizures 58 Occasional (29-5%)
24 myoclonic absence 58 Occasional (29-5%)

UMLS symptoms related to Childhood Absence Epilepsy:


seizures, absence attacks, absence seizures

MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 CACNA1H CACNG3 CHRNA4 EFHC1 FGFR3 GABBR1
2 nervous system MP:0003631 10.09 CACNA1H CACNG3 CHRNA4 EFHC1 FGFR3 GABBR1
3 hearing/vestibular/ear MP:0005377 9.73 FGFR3 GABRA1 GABRA5 GABRA6 GABRB3 RORB
4 no phenotypic analysis MP:0003012 9.56 CHRNA4 FGFR3 GABRA1 GABRA5 GABRB3 KCNK9
5 normal MP:0002873 9.28 CACNG3 FGFR3 GABRA1 GABRA6 GABRB3 GABRG2

Drugs & Therapeutics for Childhood Absence Epilepsy

Drugs for Childhood Absence Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethosuximide Approved Phase 3 77-67-8 3291
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
4
tannic acid Approved Phase 2, Phase 3 1401-55-4
5
Brivaracetam Approved, Investigational Phase 2, Phase 3 357336-20-0 9837243
6 Sodium Channel Blockers Phase 3
7 Diuretics, Potassium Sparing Phase 3
8 Hormones Phase 3
9 Calcium, Dietary Phase 3
10 Antipsychotic Agents Phase 3
11 calcium channel blockers Phase 3
12 Pharmaceutical Solutions Phase 2, Phase 3
13
Calcium Nutraceutical Phase 3 7440-70-2 271
14
Topiramate Approved Phase 2 97240-79-4 5284627
15
Levetiracetam Approved Phase 2 102767-28-2 441341
16 Hypoglycemic Agents Phase 2
17 Epidiolex Phase 2
18
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
19 Anticonvulsants Phase 1
20 Neurotransmitter Agents Phase 1
21 Psychotropic Drugs Phase 1

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 Ethosuximide;Lamotrigine;Valproic acid
2 A Multi-center, Uncontrolled, Open-label, Evaluation of Lamotrigine Monotherapy on Newly Diagnosed Typical Absence Seizures in Children and Adolescents Completed NCT01431976 Phase 3 Lamictal
3 A Prospective, Case-control Evaluation of Ketogenic Dietary Therapy for New-onset Childhood Absence Epilepsy Recruiting NCT04274179 Phase 3 Absence epilepsy medications
4 A Randomized, Dose-Finding and Confirmatory, Double-Blind, Placebo-Controlled, Parallel-Group Multicenter Study With a 2 Stage Adaptive Design and Randomized Withdrawal to Evaluate the Efficacy, Safety, and Tolerability of Brivaracetam as Monotherapy in Patients 2 to 25 Years of Age With Childhood Absence Epilepsy or Juvenile Absence Epilepsy Not yet recruiting NCT04666610 Phase 2, Phase 3 Brivaracetam
5 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
6 A 30-month Safety and Efficacy Follow-up Study With Levetiracetam at Individualized Optimal Dose in Children (4-17 Years Old at Inclusion) Suffering From Typical Absences in Childhood Absence Epilepsy (CAE) or Juvenile Absence Epilepsy (JAE) Completed NCT00545012 Phase 2 Levetiracetam
7 A Phase 2a, Safety, Tolerability, Pharmacokinetics, and Quantitative EEG Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Completed NCT03406702 Phase 2 CX-8998
8 A Phase 2, Open-label, Dose-finding Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Patients With Treatment-Resistant Childhood Absence Seizures Terminated NCT03336242 Phase 2 Cannabidiol Oral Solution
9 A Multicenter, Open-Label, Flexible Dose Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Patients With Treatment-Resistant Childhood Absence Seizures Terminated NCT03355300 Phase 2 Cannabidiol Oral Solution
10 Evaluation of Lamotrigine in Subjects With Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
11 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1 Valproic Acid
12 Hyperventilation During Routine EEG in Children: the Impact of Body Position - Sitting vs Supine- on the Yield of the Procedure in Provoking Absence Seizures Unknown status NCT02766595
13 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures: Near-infrared Spectroscopy (NIRS) Coupled to Electroencephalography (EEG) Unknown status NCT02819427
14 Longitudinal Early Epilepsy Study Unknown status NCT02954107
15 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
16 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
17 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
18 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
19 Magnetoencephalography in Absence Seizures Completed NCT00884351
20 ECV - Epihunter Clinical Validation Recruiting NCT04615442
21 Detecting Absence Seizures Using Eye Tracking Recruiting NCT04439656
22 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Suspended NCT03676543

Search NIH Clinical Center for Childhood Absence Epilepsy

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Clonazepam
Divalproex Sodium
Ethosuximide
Mephobarbital
methsuximide
phensuximide
Sodium Valproate
Trimethadione
Valproic Acid

Cochrane evidence based reviews: epilepsy, absence

Genetic Tests for Childhood Absence Epilepsy

Genetic tests related to Childhood Absence Epilepsy:

# Genetic test Affiliating Genes
1 Absence Seizures 29
2 Childhood Absence Epilepsy 29

Anatomical Context for Childhood Absence Epilepsy

MalaCards organs/tissues related to Childhood Absence Epilepsy:

40
Brain, Eye, Cortex, Thalamus, Skin, Temporal Lobe, Amygdala

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 617)
# Title Authors PMID Year
1
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 6 61 54
18514161 2008
2
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. 54 6 61
15888660 2005
3
Association between genetic variation of CACNA1H and childhood absence epilepsy. 54 6 61
12891677 2003
4
A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface. 6 61
17148443 2007
5
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. 6 61
14729682 2004
6
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. 6 61
12117362 2002
7
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 61 6
11326275 2001
8
Agonist-dependent endocytosis of γ-aminobutyric acid type A (GABAA) receptors revealed by a γ2(R43Q) epilepsy mutation. 6
23935098 2013
9
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 6
21714819 2011
10
GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. 6
20551311 2010
11
Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. 6
18534981 2008
12
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. 6
17159113 2006
13
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. 6
16510738 2006
14
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. 6
15342642 2004
15
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 6
11992121 2002
16
Mutations in GABAA receptor subunits associated with genetic epilepsies. 54 61
20308251 2010
17
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. 61 54
17215393 2007
18
New variants in the CACNA1H gene identified in childhood absence epilepsy. 54 61
16905256 2006
19
A novel GABRG2 mutation associated with febrile seizures. 54 61
16924025 2006
20
A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. 61 54
16565161 2006
21
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. 54 61
15955415 2005
22
A TASK3 channel (KCNK9) mutation in a genetic model of absence epilepsy. 54 61
15781965 2005
23
Uptake of GABA and activity of GABA transaminase in blood platelets from children with absence epilepsy. 54 61
15532543 2004
24
Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy. 54 61
15498372 2004
25
Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures. 61 54
12672902 2003
26
Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients. 61 54
12759178 2003
27
[Association analysis of childhood absence epilepsy by microsatellite DNA]. 54 61
12194792 2002
28
Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5. 54 61
8739126 1996
29
Alternatives to valproate in girls and women of childbearing potential with Idiopathic Generalized Epilepsies: state of the art and guidance for the clinician proposed by the Epilepsy and Gender Commission of the Italian League Against Epilepsy (LICE). 61
33418162 2021
30
Diagnosing and managing childhood absence epilepsy by telemedicine. 61
33323339 2021
31
Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. 61
33475151 2021
32
Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome. 61
32504278 2020
33
Network characteristics of genetic generalized epilepsy: Are the syndromes distinct? 61
33045541 2020
34
Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy. 61
32745958 2020
35
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. 61
33096746 2020
36
Altered Structural Network in Newly Onset Childhood Absence Epilepsy. 61
33029962 2020
37
Cortical and subcortical volume differences between Benign Epilepsy with Centrotemporal Spikes and Childhood Absence Epilepsy. 61
32634725 2020
38
The brain as a complex network: assessment of EEG-based functional connectivity patterns in patients with childhood absence epilepsy. 61
33052105 2020
39
How to diagnose and classify idiopathic (genetic) generalized epilepsies. 61
32782228 2020
40
NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor. 61
32485575 2020
41
Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect the diagnostic yield? 61
32446208 2020
42
Does Early Recognition of Treatment Failure and Changing Anti-Epilepsy Medication Regimen Improve Short-Term Seizure Remission Rates In Childhood Absence Epilepsy? 61
32436202 2020
43
Spike-wave discharges in absence epilepsy: segregation of electrographic components reveals distinct pathways of seizure activity. 61
32144956 2020
44
CACNA1H variants are not a cause of monogenic epilepsy. 61
32227660 2020
45
High-power, frontal-dominant ripples in absence status epilepticus during childhood. 61
32299003 2020
46
Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit. 61
32524043 2020
47
Constructing an Axonal-Specific Myelin Developmental Graph and its Application to Childhood Absence Epilepsy. 61
32255537 2020
48
Altered spontaneous brain activity in patients with childhood absence epilepsy: associations with treatment effects. 61
32366812 2020
49
[Pediatric epilepsies]. 61
32877101 2020
50
Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging. 61
32210904 2020

Variations for Childhood Absence Epilepsy

ClinVar genetic disease variations for Childhood Absence Epilepsy:

6 (show top 50) (show all 614)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUS1 NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del Deletion Pathogenic 180223 6:117810940-119417749
2 GABRG2 NM_198903.2(GABRG2):c.889+2T>G SNV Pathogenic 16210 rs1561645243 5:161531034-161531034 5:162104028-162104028
3 GABRG2 NM_198903.2(GABRG2):c.1087C>T (p.Arg363Trp) SNV Pathogenic 205549 rs796052510 5:161576158-161576158 5:162149152-162149152
4 GABRG2 NM_198903.2(GABRG2):c.530del (p.Arg177fs) Deletion Pathogenic 238189 rs878854144 5:161524846-161524846 5:162097840-162097840
5 GABRG2 NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln) SNV Pathogenic 16208 rs121909673 5:161520971-161520971 5:162093965-162093965
6 GABRG2 NM_198903.2(GABRG2):c.1145del (p.Cys382fs) Deletion Pathogenic 408213 rs1060501889 5:161576216-161576216 5:162149210-162149210
7 GABRB3 NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) SNV Pathogenic 409956 rs1060502665 15:26828519-26828519 15:26583372-26583372
8 GABRG2 NM_198903.2(GABRG2):c.937G>T (p.Gly313Ter) SNV Pathogenic 468869 rs1469287853 5:161569217-161569217 5:162142211-162142211
9 GABRB3 NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) SNV Pathogenic 374687 rs1057519201 15:26866542-26866542 15:26621395-26621395
10 GABRB3 NC_000015.10:g.(?_26547773)_(26775295_?)del Deletion Pathogenic 469568 15:26547773-26775295
11 PCDH19 NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) Duplication Pathogenic 206353 rs758946412 X:99662504-99662505 X:100407506-100407507
12 GABRB3 NC_000015.10:g.(?_26567561)_(26629023_?)del Deletion Pathogenic 537298 15:26812708-26874170 15:26567561-26629023
13 GABRG2 NM_198903.2(GABRG2):c.797_801del (p.Ser265_Ser266insTer) Deletion Pathogenic 536744 rs1554098222 5:161530937-161530941 5:162103931-162103935
14 GABRB3 NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) SNV Pathogenic 393256 rs797045045 15:26812868-26812868 15:26567721-26567721
15 GABRB3 NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) SNV Pathogenic 653036 rs942355738 15:26866591-26866591 15:26621444-26621444
16 GABRG2 NM_198903.2(GABRG2):c.1155del (p.Phe385fs) Deletion Pathogenic 652738 rs1581453822 5:161576224-161576224 5:162149218-162149218
17 GABRG2 NC_000005.10:g.(?_162101225)_(162153368_?)del Deletion Pathogenic 830557 5:161528231-161580374
18 GABRG2 NC_000005.10:g.(?_162067980)_(162068126_?)del Deletion Pathogenic 831562 5:161494986-161495132
19 GABRG2 NC_000005.10:g.(?_162101215)_(162104046_?)del Deletion Pathogenic 831885 5:161528221-161531052
20 GABRG2 NC_000005.10:g.(?_162066642)_(162156539_?)del Deletion Pathogenic 833050 5:161493648-161583545
21 ATP10A NC_000015.10:g.(?_25862297)_(26937328_?)del Deletion Pathogenic 833345 15:26107444-27182475
22 GABRB3 NC_000015.10:g.(?_26547773)_(26583434_?)del Deletion Pathogenic 833422 15:26792920-26828581
23 GABRB3 NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) SNV Pathogenic 839250 15:26806254-26806254 15:26561107-26561107
24 GABRG2 NM_198903.2(GABRG2):c.406C>T (p.Arg136Ter) SNV Pathogenic 205540 rs796052504 5:161524722-161524722 5:162097716-162097716
25 GABRG2 NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter) SNV Pathogenic 855508 5:161495100-161495100 5:162068094-162068094
26 GABRG2 NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter) SNV Pathogenic 934630 5:161528263-161528263 5:162101257-162101257
27 GABRG2 NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter) SNV Pathogenic 934755 5:161524845-161524845 5:162097839-162097839
28 GABRB3 NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) Deletion Pathogenic 942245 15:26866517-26866517 15:26621370-26621370
29 GABRB3 NM_000814.6(GABRB3):c.1054del (p.Asp352fs) Deletion Pathogenic 943697 15:26806105-26806105 15:26560958-26560958
30 GABRG2 NM_198904.4(GABRG2):c.1087del (p.Arg363fs) Deletion Pathogenic 944808 5:161576277-161576277 5:162149271-162149271
31 GABRG2 NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter) SNV Pathogenic 945040 5:161531011-161531011 5:162104005-162104005
32 GABRB3 NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) SNV Pathogenic 488884 rs1555368345 15:26825568-26825568 15:26580421-26580421
33 GABRG2 NM_198904.4(GABRG2):c.697del (p.Arg233fs) Deletion Pathogenic 953695 5:161530959-161530959 5:162103953-162103953
34 GABRB3 NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) SNV Pathogenic 948660 15:26812806-26812806 15:26567659-26567659
35 GABRB3 NM_000814.6(GABRB3):c.172+1del Deletion Pathogenic 969517 15:27017827-27017827 15:26772680-26772680
36 GABRG2 NM_198903.2(GABRG2):c.964C>T (p.Pro322Ser) SNV Pathogenic 625863 rs796052508 5:161569244-161569244 5:162142238-162142238
37 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) SNV Pathogenic 265162 rs886039373 5:161309645-161309645 5:161882639-161882639
38 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
39 GABRA1 NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) Deletion Pathogenic 568345 rs1561587715 5:161322682-161322701 5:161895676-161895695
40 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
41 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
42 GABRA1 NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) SNV Pathogenic 265161 rs727503940 5:161309644-161309644 5:161882638-161882638
43 GABRA1 NC_000005.9:g.(?_160721068)_(161528343_?)del Deletion Pathogenic 833049 5:160721068-161528343
44 GABRG2 NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln) SNV Pathogenic 60708 rs397514737 5:161576159-161576159 5:162149153-162149153
45 GABRG2 NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) SNV Pathogenic/Likely pathogenic 205541 rs796052505 5:161522557-161522557 5:162095551-162095551
46 GABRA1 NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) SNV Likely pathogenic 853851 5:161322680-161322680 5:161895674-161895674
47 GABRA1 NM_001127644.2(GABRA1):c.857-2A>G SNV Likely pathogenic 585892 rs1313965409 5:161322670-161322670 5:161895664-161895664
48 GABRA1 NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) SNV Likely pathogenic 950574 5:161317999-161317999 5:161890993-161890993
49 GABRA1 NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) SNV Likely pathogenic 858746 5:161318025-161318025 5:161891019-161891019
50 GABRB3 NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser) SNV Likely pathogenic 975243 15:26806258-26806258 15:26561111-26561111

Expression for Childhood Absence Epilepsy

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

Pathways for Childhood Absence Epilepsy

Pathways related to Childhood Absence Epilepsy according to KEGG:

36
# Name Kegg Source Accession
1 GABAergic synapse hsa04727

Pathways related to Childhood Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 SLC2A1 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
2
Show member pathways
12.91 RORB KCNK9 GABRG2 GABRB3 GABRA6 GABRA5
3
Show member pathways
12.83 KCNK9 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
4
Show member pathways
12.45 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
5
Show member pathways
12.41 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 ATP10A
6
Show member pathways
12.3 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 FGFR3
7
Show member pathways
11.88 GABRA6 GABRA5 GABRA1 GABBR1
8
Show member pathways
11.87 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
9
Show member pathways
11.18 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
10 11.03 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
11
Show member pathways
10.77 GABRG2 GABRA1
12 10.33 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1

GO Terms for Childhood Absence Epilepsy

Cellular components related to Childhood Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.43 SLC2A1 SCN1B PCDH19 NUS1 KCNK9 GABRG2
2 plasma membrane GO:0005886 10.33 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
3 integral component of membrane GO:0016021 10.31 SLC2A1 SCN1B PCDH19 NUS1 KCNK9 GABRG2
4 cell junction GO:0030054 10.05 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
5 synapse GO:0045202 10.03 SLC2A1 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
6 dendrite GO:0030425 9.93 GABRG2 GABRA5 GABBR1 CHRNA4 CACNG3
7 neuron projection GO:0043005 9.91 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
8 postsynapse GO:0098794 9.8 GABRG2 GABRA6 GABRA5 GABRA1
9 GABA-ergic synapse GO:0098982 9.78 GABRG2 GABRA5 GABRA1 GABBR1
10 postsynaptic membrane GO:0045211 9.7 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
11 chloride channel complex GO:0034707 9.65 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
12 dendrite membrane GO:0032590 9.62 GABRG2 GABRA6 GABRA5 GABRA1
13 voltage-gated sodium channel complex GO:0001518 9.55 SCN1B CACNA1H
14 integral component of plasma membrane GO:0005887 9.47 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
15 GABA-A receptor complex GO:1902711 9.35 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1

Biological processes related to Childhood Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.07 SCN1B KCNK9 GABRG2 GABRB3 GABRA6 GABRA5
2 chemical synaptic transmission GO:0007268 9.95 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
3 chloride transmembrane transport GO:1902476 9.85 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
4 chloride transport GO:0006821 9.83 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
5 nervous system process GO:0050877 9.8 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
6 regulation of postsynaptic membrane potential GO:0060078 9.73 GABRG2 GABRA6 GABRA5 GABRA1 GABBR1 CHRNA4
7 calcium ion transport GO:0006816 9.71 CHRNA4 CACNG3 CACNA1H
8 synaptic transmission, GABAergic GO:0051932 9.71 GABRG2 GABRA6 GABRA5 GABRA1
9 regulation of membrane potential GO:0042391 9.7 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
10 inhibitory synapse assembly GO:1904862 9.69 GABRG2 GABRB3 GABRA1
11 cellular response to histamine GO:0071420 9.67 GABRG2 GABRB3 GABRA1
12 ion transmembrane transport GO:0034220 9.61 SCN1B GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
13 membrane depolarization GO:0051899 9.52 SCN1B CHRNA4
14 gamma-aminobutyric acid signaling pathway GO:0007214 9.1 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1

Molecular functions related to Childhood Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.98 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
2 ion channel activity GO:0005216 9.87 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
3 chloride channel activity GO:0005254 9.85 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.78 GABRG2 GABRA6 GABRA5 GABRA1
5 neurotransmitter receptor activity GO:0030594 9.73 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
6 benzodiazepine receptor activity GO:0008503 9.71 GABRG2 GABRA6 GABRA5 GABRA1
7 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.67 GABRG2 GABRA6 GABRA5 GABRA1
8 GABA-A receptor activity GO:0004890 9.55 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
9 voltage-gated sodium channel activity GO:0005248 9.49 SCN1B CACNA1H
10 extracellular ligand-gated ion channel activity GO:0005230 9.43 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
11 GABA-gated chloride ion channel activity GO:0022851 9.02 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1

Sources for Childhood Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....