MCID: CHL002
MIFTS: 60

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 25 58 36 54 6 15
Absence Seizures 29 54 6
Pyknolepsy 12 25 58
Absence Epilepsy, Childhood 25
Petit Mal Epilepsy 25
Petit Mal Seizure 12
Epilepsy, Absence 43
Absence Epilepsy 71
Absence Seizure 12
Pykno-Epilepsy 25

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

Genetics Home Reference : 25 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, childhood absence 1, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Childhood Absence Epilepsy is PCDH19 (Protocadherin 19), and among its related pathways/superpathways are GABAergic synapse and Activation of cAMP-Dependent PKA. The drugs Lamotrigine and Ethosuximide have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and eye, 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 177)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 33.9 GABRG2 GABRB3 GABRA1 CACNG3 CACNA1I CACNA1H
2 epilepsy, childhood absence 1 33.3 GABRB3 ECA1
3 epilepsy, idiopathic generalized 33.2 SLC2A1 SCN1B PCDH19 JRK GABRG2 GABRB3
4 lennox-gastaut syndrome 33.1 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA6
5 status epilepticus 32.9 PCDH19 GABBR1 CACNA1A ALDH5A1
6 epilepsy 32.1 SLC2A1 SCN1B PCDH19 JRK GABRG2 GABRB3
7 visual epilepsy 31.7 SLC2A1 SCN1B GABRG2 FGFR3 CHRNA4
8 early myoclonic encephalopathy 31.4 SCN1B PCDH19 GABRG2 GABRA1 CHRNA4
9 focal epilepsy 31.4 SLC2A1 SCN1B PCDH19 GABRG2 GABRA5 CHRNA4
10 benign epilepsy with centrotemporal spikes 31.3 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
11 epilepsy, myoclonic juvenile 31.1 SLC2A1 SCN1B PCDH19 JRK GABRG2 GABRB3
12 early onset absence epilepsy 31.1 SLC2A1 SCN1B GABRG2 GABRB3 GABRA1
13 west syndrome 31.0 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
14 generalized epilepsy with febrile seizures plus 30.9 SCN1B PCDH19 GABRG2 GABRB3 GABRA6 GABRA5
15 angelman syndrome 30.7 GABRG2 GABRB3 GABRA5 GABRA1
16 epileptic encephalopathy, early infantile, 6 30.7 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA6
17 movement disease 30.7 SLC2A1 JRK CACNA1A
18 febrile seizures, familial, 8 11.6
19 epilepsy, childhood absence 6 11.6
20 chromosome 15q11-q13 duplication syndrome 11.5
21 epilepsy, idiopathic generalized 13 11.3
22 glut1 deficiency syndrome 2 11.3
23 megaloblastic anemia due to dihydrofolate reductase deficiency 11.3
24 glycosylphosphatidylinositol biosynthesis defect 1 11.2
25 epilepsy, juvenile absence 1 11.1
26 epilepsy, idiopathic generalized 10 11.1
27 epilepsy, juvenile myoclonic 10 11.1
28 epilepsy, idiopathic generalized 15 11.1
29 chd2-related neurodevelopmental disorders 11.1
30 genetic epilepsy with febrile seizures plus 11.1
31 spinal muscular atrophy with progressive myoclonic epilepsy 10.9
32 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.9
33 myoclonic epilepsy of lafora 10.9
34 neurodegeneration with brain iron accumulation 5 10.9
35 generalized epilepsy with febrile seizures plus, type 1 10.9
36 glut1 deficiency syndrome 1 10.9
37 lissencephaly 1 10.9
38 epilepsy, idiopathic generalized 11 10.9
39 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 10.9
40 epilepsy, idiopathic generalized 8 10.9
41 epilepsy, familial adult myoclonic, 3 10.9
42 epileptic encephalopathy, early infantile, 13 10.9
43 epilepsy, idiopathic generalized 12 10.9
44 epileptic encephalopathy, early infantile, 19 10.9
45 myoclonic-atonic epilepsy 10.9
46 epilepsy, idiopathic generalized 14 10.9
47 epilepsy, idiopathic generalized 16 10.9
48 scn8a-related epilepsy with encephalopathy 10.9
49 stxbp1 encephalopathy with epilepsy 10.9
50 continuous spike-wave during slow sleep syndrome 10.9

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 21)
# 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 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
4 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
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 generalized tonic-clonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002069
9 uncontrolled eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0007738
10 febrile seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002373
11 dyslexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010522
12 abnormal social behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0012433
13 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
14 low self esteem 58 31 occasional (7.5%) Occasional (29-5%) HP:0031469
15 hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002883
16 myoclonic absence 58 31 occasional (7.5%) Occasional (29-5%) HP:0011150
17 punding 58 31 occasional (7.5%) Occasional (29-5%) HP:0030218
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%)

UMLS symptoms related to Childhood Absence Epilepsy:


seizures, absence attacks, absence seizures

MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ALDH5A1 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4
2 growth/size/body region MP:0005378 10.1 ALDH5A1 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
3 nervous system MP:0003631 10.09 ALDH5A1 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4
4 homeostasis/metabolism MP:0005376 10.03 ALDH5A1 CACNA1A CACNA1G CACNG3 CHRNA4 FGFR3
5 no phenotypic analysis MP:0003012 9.65 CACNA1A CACNA1G CHRNA4 FGFR3 GABRA1 GABRA5
6 normal MP:0002873 9.28 CACNA1A CACNG3 FGFR3 GABRA1 GABRA6 GABRB3

Drugs & Therapeutics for Childhood Absence Epilepsy

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Ethosuximide Approved Phase 3 77-67-8 3291
3
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5 Hormones Phase 3
6 Antipsychotic Agents Phase 3
7 Sodium Channel Blockers Phase 3
8 calcium channel blockers Phase 3
9 Calcium, Dietary Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Pharmaceutical Solutions Phase 3
12 Serotonin Uptake Inhibitors Phase 3
13 Serotonin Agents Phase 3
14 Sunflower Phase 3
15
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
16
Levetiracetam Approved Phase 2 102767-28-2 441341
17
Topiramate Approved Phase 2 97240-79-4 5284627
18
Lacosamide Approved Phase 2 860352-01-8, 175481-36-4 219078
19 Nootropic Agents Phase 2
20 Hypoglycemic Agents Phase 2
21 Epidiolex Phase 2
22
Dasatinib Approved, Investigational Phase 1 302962-49-8 3062316
23
Lenalidomide Approved Phase 1 191732-72-6 216326
24
Lapatinib Approved, Investigational Phase 1 231277-92-2, 388082-78-8 208908 9941095
25
Sunitinib Approved, Investigational Phase 1 341031-54-7, 557795-19-4 5329102
26
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
27
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
28 Protein Kinase Inhibitors Phase 1
29 Angiogenesis Inhibitors Phase 1
30
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
31 Immunologic Factors Phase 1
32 Neurotransmitter Agents Phase 1
33 Central Nervous System Depressants Phase 1
34 Anticonvulsants Phase 1
35 Tranquilizing Agents Phase 1
36 GABA Agents Phase 1
37 Antimanic Agents Phase 1
38 Psychotropic Drugs Phase 1
39
Dopamine Approved 51-61-6, 62-31-7 681
40
Apomorphine Approved, Investigational 58-00-4, 41372-20-7 6005
41 Sympathomimetics
42 Gastrointestinal Agents
43 Dopamine agonists
44 Dopamine Agents
45 Autonomic Agents
46 Protective Agents
47 Emetics

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
2 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 ethosuximide;lamotrigine;valproic acid
3 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
4 A Double-Blind, Randomized, Multicenter, Parallel Group Study to Establish Dose-Response, Safety, and Efficacy of Zonegran (Zonisamide) as Monotherapy in Patients With Newly Diagnosed Epilepsy Completed NCT00056576 Phase 3 Zonisamide
5 An Open-Label Treatment of ZX008 (Fenfluramine Hydrochloride) in Pediatric and Adult Epilepsy Patients (Ages 4-25) With Sunflower Syndrome. Active, not recruiting NCT03790137 Phase 3 Fenfluramine Hydrochloride
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 Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
8 An Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Long-Term Oral Lacosamide for Uncontrolled Primary Generalized Tonic-Clonic Seizures in Subjects With Idiopathic Generalized Epilepsy Completed NCT01118962 Phase 2 Lacosamide
9 An Open-Label Pilot Study to Assess the Safety of Oral Lacosamide as Adjunctive Therapy for Uncontrolled Primary Generalized Tonic-Clonic Seizures in Subjects With Idiopathic Generalized Epilepsy Completed NCT01118949 Phase 2 Lacosamide
10 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 Recruiting NCT03355300 Phase 2 Cannabidiol Oral Solution
11 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 Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
12 A Phase 2a, Safety, Tolerability, Pharmacokinetics, and Quantitative EEG Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Active, not recruiting NCT03406702 Phase 2 CX-8998
13 Evaluation of Lamotrigine in Subjects With Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
14 A Multi-Arm Complete Phase 1 Trial of Valproic Acid-Based 2-Agent Oral Regimens for Patients With Advanced Solid Tumor Completed NCT00495872 Phase 1 Dasatinib;Erlotinib;Lapatinib;Lenalidomide;Sorafenib;Sunitinib;Valproic Acid
15 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1 Valproic Acid
16 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
17 The Effect of Child Position on the Results of Hyperventilation During Routine Electroencephalography Unknown status NCT02851199
18 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
19 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
20 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
21 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
22 Magnetoencephalography in Absence Seizures Completed NCT00884351
23 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
24 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy - a Prospective Pilot Study Regarding Safety, Effectiveness and Clinical Performance Completed NCT01178437
25 Electroencephalography (EEG) and Deep Brain Stimulation (DBS) in Epilepsy Completed NCT00194870
26 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543
27 Longitudinal Early Epilepsy Study Recruiting NCT02954107
28 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) Active, not recruiting NCT02819427
29 Pattern of Pediatric Seizures at Al-Arish Central Hospital - North Sinai Not yet recruiting NCT03374384

Search NIH Clinical Center for Childhood Absence Epilepsy

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Anatomical Context for Childhood Absence Epilepsy

MalaCards organs/tissues related to Childhood Absence Epilepsy:

40
Brain, Temporal Lobe, Eye, Breast, Testes, Cortex, Thalamus

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 585)
# Title Authors PMID Year
1
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 54 61 6
18514161 2008
2
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. 54 61 6
15888660 2005
3
Association between genetic variation of CACNA1H and childhood absence epilepsy. 54 61 6
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. 61 6
17148443 2007
5
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. 61 6
14729682 2004
6
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. 61 6
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
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. 6
16510738 2006
13
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors. 6
15342642 2004
14
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 6
11992121 2002
15
Mutations in GABAA receptor subunits associated with genetic epilepsies. 54 61
20308251 2010
16
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. 54 61
17215393 2007
17
New variants in the CACNA1H gene identified in childhood absence epilepsy. 54 61
16905256 2006
18
A novel GABRG2 mutation associated with febrile seizures. 54 61
16924025 2006
19
A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. 54 61
16565161 2006
20
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. 54 61
15955415 2005
21
A TASK3 channel (KCNK9) mutation in a genetic model of absence epilepsy. 54 61
15781965 2005
22
Uptake of GABA and activity of GABA transaminase in blood platelets from children with absence epilepsy. 54 61
15532543 2004
23
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
24
Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures. 54 61
12672902 2003
25
Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients. 54 61
12759178 2003
26
[Association analysis of childhood absence epilepsy by microsatellite DNA]. 54 61
12194792 2002
27
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
28
Infantile spasms followed by childhood absence epilepsy: A case series. 61
31841970 2020
29
Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms. 61
31800012 2020
30
The impact of silencing feed-forward parvalbumin-expressing inhibitory interneurons in the cortico-thalamocortical network on seizure generation and behaviour. 61
31494287 2019
31
Antiepileptogenic effects of Ethosuximide and Levetiracetam in WAG/Rij rats are only temporary. 61
31386986 2019
32
Time perception in childhood absence epilepsy: Findings from a pilot study. 61
31470222 2019
33
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019
34
Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy. 61
31679374 2019
35
Concomitance of benign epilepsy with centrotemporal spikes and childhood absence epilepsy: an unusual case. 61
31011933 2019
36
Early clinical and EEG findings associated with the outcome in childhood absence epilepsy. 61
31419648 2019
37
Antiepileptogenic effects of Ethosuximide and Levetiracetam in WAG/Rij rats are only temporary. 61
31994050 2019
38
A network approach to investigate the bi-hemispheric synchrony in absence epilepsy. 61
31319290 2019
39
The T-type calcium channel blocker Z944 reduces conditioned fear in Genetic Absence Epilepsy Rats from Strasbourg and the non-epileptic control strain. 61
30889299 2019
40
The epileptic network and cognition: What functional connectivity is teaching us about the childhood epilepsies. 61
31247129 2019
41
The absence of NIPA2 enhances neural excitability through BK (big potassium) channels. 61
30895737 2019
42
Parental stress in a sample of children with epilepsy. 61
31002402 2019
43
Lower myelin-water content of the frontal lobe in childhood absence epilepsy. 61
31283841 2019
44
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. 61
31054517 2019
45
Valproate and female patients: Prescribing attitudes of Italian epileptologists. 61
31252276 2019
46
Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features. 61
31035243 2019
47
Dynamic origin of spike and wave discharges in the brain. 61
31022569 2019
48
Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. 61
30223294 2019
49
Case of Childhood Absence Epilepsy with Focal Spikes. 61
30880214 2019
50
Long-term prognosis of childhood absence epilepsy. 61
28325560 2019

Variations for Childhood Absence Epilepsy

ClinVar genetic disease variations for Childhood Absence Epilepsy:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASF1A , CEP85L , DCBLD1 , FAM184A , GOPC , MCM9 , NUS1 , PLN , SLC35F1 NC_000006.11:g.(117810940_117810996)_(119417693_119417749)deldeletion Pathogenic 180223 6:117810940-119417749
2 PCDH19 NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)duplication Pathogenic 206353 rs758946412 X:99662504-99662505 X:100407506-100407507
3 FGFR3 NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
4 SCN1A NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser)SNV Conflicting interpretations of pathogenicity 68616 rs121918799 2:166872146-166872146 2:166015636-166015636
5 46;XY;t(4;14)(p14;q11.2)dnTranslocation Uncertain significance 267927
6 SCN9A NM_001365536.1(SCN9A):c.3328T>C (p.Ser1110Pro)SNV Uncertain significance 523455 rs1553486581 2:167128932-167128932 2:166272422-166272422
7 SCN1B NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)SNV Uncertain significance 637055 19:35523476-35523476 19:35032572-35032572
8 GABRA6 NM_000811.3(GABRA6):c.255G>C (p.Gln85His)SNV Uncertain significance 644592 5:161115984-161115984 5:161688978-161688978
9 GABRA6 NM_000811.3(GABRA6):c.847A>G (p.Met283Val)SNV Uncertain significance 477870 rs1554115829 5:161118967-161118967 5:161691961-161691961
10 GABRA6 NM_000811.3(GABRA6):c.371C>G (p.Ser124Cys)SNV Uncertain significance 477864 rs1554115593 5:161116100-161116100 5:161689094-161689094
11 GABRA6 NM_000811.3(GABRA6):c.1156G>A (p.Glu386Lys)SNV Uncertain significance 477862 rs773585316 5:161128573-161128573 5:161701567-161701567
12 GABRA6 NM_000811.3(GABRA6):c.507T>C (p.Ala169=)SNV Likely benign 477865 rs1400096249 5:161116320-161116320 5:161689314-161689314
13 GABRA6 NM_000811.3(GABRA6):c.339G>A (p.Thr113=)SNV Likely benign 477863 rs113239794 5:161116068-161116068 5:161689062-161689062
14 GABRA6 NM_000811.3(GABRA6):c.560C>T (p.Thr187Met)SNV Benign 477866 rs3811993 5:161116672-161116672 5:161689666-161689666

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 SCN1B KCNK9 FGFR3 CACNG3 CACNA1I CACNA1H
2
Show member pathways
13.24 FGFR3 CHRNA4 CACNG3 CACNA1I CACNA1H CACNA1G
3
Show member pathways
12.96 SCN1B CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
4
Show member pathways
12.88 KCNK9 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
5
Show member pathways
12.82 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
6
Show member pathways
12.8 SLC2A1 KCNK9 CACNA1I CACNA1H CACNA1G
7
Show member pathways
12.8 FGFR3 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
8
Show member pathways
12.79 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
9
Show member pathways
12.75 KCNK9 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
10 12.7 FGFR3 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
11
Show member pathways
12.69 CHRNA4 CACNA1I CACNA1H CACNA1G CACNA1A
12
Show member pathways
12.58 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
13
Show member pathways
12.47 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
14
Show member pathways
12.46 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
15
Show member pathways
12.36 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 FGFR3
16
Show member pathways
12.27 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
17
Show member pathways
12.2 CACNA1I CACNA1H CACNA1G CACNA1A
18 12.04 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
19
Show member pathways
11.99 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
20
Show member pathways
11.98 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
21
Show member pathways
11.92 GABRA6 GABRA5 GABRA1 GABBR1 CACNA1A
22 11.68 FGFR3 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
23 11.64 GABBR1 CACNA1I CACNA1H CACNA1G
24 11.59 CACNA1I CACNA1H CACNA1G CACNA1A
25 11.52 SCN1B CACNA1H CACNA1G
26
Show member pathways
11.34 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
27 11.31 CACNA1I CACNA1H CACNA1G
28
Show member pathways
10.9 GABRG2 GABRA1
29 10.77 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
30 10.66 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 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.47 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
2 integral component of membrane GO:0016021 10.41 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
3 plasma membrane GO:0005886 10.33 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
4 cell junction GO:0030054 10.1 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
5 synapse GO:0045202 10.09 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
6 dendrite GO:0030425 10 GABRG2 GABRA5 GABBR1 CHRNA4 CACNG3 CACNA1A
7 neuron projection GO:0043005 9.99 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
8 postsynaptic membrane GO:0045211 9.87 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
9 postsynapse GO:0098794 9.85 GABRG2 GABRA6 GABRA5 GABRA1
10 GABA-ergic synapse GO:0098982 9.85 GABRG2 GABRB3 GABRA5 GABRA1 GABBR1
11 dendrite membrane GO:0032590 9.8 GABRG2 GABRA6 GABRA5 GABRA1
12 integral component of plasma membrane GO:0005887 9.77 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
13 voltage-gated sodium channel complex GO:0001518 9.67 SCN1B CACNA1I CACNA1H CACNA1G
14 chloride channel complex GO:0034707 9.65 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
15 voltage-gated calcium channel complex GO:0005891 9.55 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
16 GABA-A receptor complex GO:1902711 9.02 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.23 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
2 transmembrane transport GO:0055085 10.04 SLC2A1 CACNA1I CACNA1H CACNA1G CACNA1A
3 chemical synaptic transmission GO:0007268 10.01 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
4 ion transmembrane transport GO:0034220 9.97 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
5 ion transport GO:0006811 9.97 SCN1B KCNK9 GABRG2 GABRB3 GABRA6 GABRA5
6 calcium ion transmembrane transport GO:0070588 9.96 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
7 regulation of ion transmembrane transport GO:0034765 9.95 SCN1B CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
8 calcium ion transport GO:0006816 9.93 CHRNA4 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
9 chloride transmembrane transport GO:1902476 9.92 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
10 chloride transport GO:0006821 9.91 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
11 sodium ion transmembrane transport GO:0035725 9.88 SCN1B CACNA1I CACNA1H CACNA1G
12 regulation of postsynaptic membrane potential GO:0060078 9.85 GABRG2 GABRA6 GABRA5 GABRA1 GABBR1 CHRNA4
13 calcium ion import GO:0070509 9.8 CACNA1I CACNA1H CACNA1G CACNA1A
14 nervous system process GO:0050877 9.8 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
15 neuronal action potential GO:0019228 9.77 CACNA1I CACNA1H CACNA1G
16 membrane depolarization GO:0051899 9.77 SCN1B CHRNA4 CACNA1A
17 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.76 CACNA1I CACNA1H CACNA1G
18 membrane depolarization during action potential GO:0086010 9.74 CACNA1I CACNA1H CACNA1G
19 synaptic transmission, GABAergic GO:0051932 9.73 GABRG2 GABRA6 GABRA5 GABRA1
20 inhibitory synapse assembly GO:1904862 9.72 GABRG2 GABRB3 GABRA1
21 cellular response to histamine GO:0071420 9.71 GABRG2 GABRB3 GABRA1
22 regulation of neuron apoptotic process GO:0043523 9.65 GABRB3 GABRA5
23 innervation GO:0060384 9.64 GABRB3 GABRA5
24 transmission of nerve impulse GO:0019226 9.63 CACNG3 CACNA1A
25 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1B CACNA1G
26 inhibitory postsynaptic potential GO:0060080 9.62 GABRB3 CHRNA4
27 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.61 SCN1B CACNA1G
28 inner ear receptor cell development GO:0060119 9.61 GABRB3 GABRA5
29 gamma-aminobutyric acid signaling pathway GO:0007214 9.5 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
30 regulation of membrane potential GO:0042391 9.28 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.92 SCN1B CACNA1I CACNA1H CACNA1G CACNA1A
2 calcium channel activity GO:0005262 9.91 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
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 9.83 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
5 voltage-gated sodium channel activity GO:0005248 9.8 SCN1B CACNA1I CACNA1H CACNA1G
6 voltage-gated calcium channel activity GO:0005245 9.8 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
7 benzodiazepine receptor activity GO:0008503 9.67 GABRG2 GABRA6 GABRA5 GABRA1
8 low voltage-gated calcium channel activity GO:0008332 9.65 CACNA1I CACNA1H CACNA1G
9 GABA-A receptor activity GO:0004890 9.65 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
10 extracellular ligand-gated ion channel activity GO:0005230 9.63 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
11 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.62 GABRG2 GABRA6 GABRA5 GABRA1
12 GABA-gated chloride ion channel activity GO:0022851 9.35 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
13 ion channel activity GO:0005216 9.32 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4

Sources for Childhood Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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