MCID: CHL002
MIFTS: 61

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 29 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 Zonisamide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and breast, 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 190)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 33.9 GABRG2 GABRB3 GABRA1 CHRNA4 CACNG3 CACNA1I
2 epilepsy, childhood absence 1 33.4 GABRB3 ECA1
3 epilepsy, idiopathic generalized 33.3 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA6
4 febrile seizures, familial, 8 33.2 SCN1B GABRG2
5 lennox-gastaut syndrome 33.2 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA5
6 status epilepticus 32.9 PCDH19 GABBR1 CACNA1A ALDH5A1
7 generalized epilepsy with febrile seizures plus, type 1 32.3 SCN1B GABRG2
8 epilepsy 32.2 SLC2A1 SCN1B PCDH19 JRK GABRG2 GABRB3
9 visual epilepsy 31.7 SLC2A1 SCN1B GABRG2 FGFR3 CHRNA4
10 early myoclonic encephalopathy 31.4 SCN1B PCDH19 GABRG2 GABRB3 GABRA1 CHRNA4
11 focal epilepsy 31.4 SLC2A1 SCN1B PCDH19 GABRG2 GABRA5 CHRNA4
12 benign epilepsy with centrotemporal spikes 31.4 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
13 epilepsy, myoclonic juvenile 31.2 SLC2A1 SCN1B PCDH19 JRK GABRG2 GABRB3
14 early onset absence epilepsy 31.1 SLC2A1 SCN1B GABRG2 GABRB3 GABRA1
15 west syndrome 31.0 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA1
16 generalized epilepsy with febrile seizures plus 31.0 SCN1B PCDH19 GABRG2 GABRB3 GABRA6 GABRA1
17 dystonia 31.0 SLC2A1 GABRG2 GABRB3 GABRA1 GABBR1 CACNA1A
18 angelman syndrome 30.8 GABRG2 GABRB3 GABRA5 GABRA1
19 epileptic encephalopathy, early infantile, 6 30.7 SLC2A1 SCN1B PCDH19 GABRG2 GABRB3 GABRA5
20 movement disease 30.7 SLC2A1 JRK CACNA1A
21 epilepsy, childhood absence 6 11.6
22 chromosome 15q11-q13 duplication syndrome 11.5
23 megaloblastic anemia due to dihydrofolate reductase deficiency 11.3
24 glut1 deficiency syndrome 2 11.3
25 epilepsy, idiopathic generalized 13 11.3
26 glycosylphosphatidylinositol biosynthesis defect 1 11.2
27 epilepsy, idiopathic generalized 10 11.1
28 epilepsy, juvenile absence 1 11.1
29 chd2-related neurodevelopmental disorders 11.1
30 epilepsy, idiopathic generalized 15 11.1
31 epilepsy, juvenile myoclonic 10 11.1
32 genetic epilepsy with febrile seizures plus 11.1
33 epilepsy, idiopathic generalized 16 10.9
34 epilepsy, idiopathic generalized 14 10.9
35 myoclonic-atonic epilepsy 10.9
36 epileptic encephalopathy, early infantile, 19 10.9
37 epilepsy, idiopathic generalized 12 10.9
38 epileptic encephalopathy, early infantile, 13 10.9
39 epilepsy, familial adult myoclonic, 3 10.9
40 epilepsy, idiopathic generalized 8 10.9
41 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 10.9
42 epilepsy, idiopathic generalized 11 10.9
43 lissencephaly 1 10.9
44 glut1 deficiency syndrome 1 10.9
45 neurodegeneration with brain iron accumulation 5 10.9
46 myoclonic epilepsy of lafora 10.9
47 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.9
48 spinal muscular atrophy with progressive myoclonic epilepsy 10.9
49 scn8a-related epilepsy with encephalopathy 10.9
50 stxbp1 encephalopathy with epilepsy 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 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 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
7 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
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:

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

Interventional clinical trials:

(show all 31)
# 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 Prospective, Case-control Evaluation of Ketogenic Dietary Therapy for New-onset Childhood Absence Epilepsy Not yet recruiting NCT04274179 Phase 3 Absence epilepsy medications
7 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
8 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
9 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
10 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
11 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
12 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
13 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
14 Evaluation of Lamotrigine in Subjects With Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
15 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
16 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1 Valproic Acid
17 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
18 The Effect of Child Position on the Results of Hyperventilation During Routine Electroencephalography Unknown status NCT02851199
19 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
20 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
21 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
22 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
23 Magnetoencephalography in Absence Seizures Completed NCT00884351
24 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
25 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
26 Electroencephalography (EEG) and Deep Brain Stimulation (DBS) in Epilepsy Completed NCT00194870
27 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543
28 Longitudinal Early Epilepsy Study Recruiting NCT02954107
29 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
30 Detecting Absence Seizures Using Eye Tracking Not yet recruiting NCT04439656
31 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
2 Childhood Absence Epilepsy 29

Anatomical Context for Childhood Absence Epilepsy

MalaCards organs/tissues related to Childhood Absence Epilepsy:

40
Brain, Eye, Breast, Testes, Cortex, Thalamus, Skin

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 602)
# Title Authors PMID Year
1
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 61 54 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 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. 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. 6 61
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. 61 54
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. 61 54
16905256 2006
18
A novel GABRG2 mutation associated with febrile seizures. 61 54
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. 61 54
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. 61 54
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. 61 54
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. 61 54
8739126 1996
28
NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor. 61
32485575 2020
29
Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect the diagnostic yield? 61
32446208 2020
30
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
31
Spike-wave discharges in absence epilepsy: segregation of electrographic components reveals distinct pathways of seizure activity. 61
32144956 2020
32
Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit. 61
32524043 2020
33
CACNA1H variants are not a cause of monogenic epilepsy. 61
32227660 2020
34
High-power, frontal-dominant ripples in absence status epilepticus during childhood. 61
32299003 2020
35
Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome. 61
32504278 2020
36
Altered spontaneous brain activity in patients with childhood absence epilepsy: associations with treatment effects. 61
32371653 2020
37
Altered spontaneous brain activity in patients with childhood absence epilepsy: associations with treatment effects. 61
32366812 2020
38
Constructing an Axonal-Specific Myelin Developmental Graph and its Application to Childhood Absence Epilepsy. 61
32255537 2020
39
Functional brain network characteristics are associated with epilepsy severity in childhood absence epilepsy. 61
32387851 2020
40
Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms. 61
31800012 2020
41
Changes in Interictal Pretreatment and Posttreatment EEG in Childhood Absence Epilepsy. 61
32231515 2020
42
Circadian Rhythms and Epilepsy: A Suitable Case for Absence Epilepsy. 61
32411068 2020
43
Establishing Drug Effects on Electrocorticographic Activity in a Genetic Absence Epilepsy Model: Advances and Pitfalls. 61
32351383 2020
44
Infantile spasms followed by childhood absence epilepsy: A case series. 61
31841970 2020
45
Characterization of Anti-seizure Medication Treatment Pathways in Pediatric Epilepsy Using the Electronic Health Record-Based Common Data Model. 61
32477256 2020
46
Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging. 61
32210904 2020
47
The impact of silencing feed-forward parvalbumin-expressing inhibitory interneurons in the cortico-thalamocortical network on seizure generation and behaviour. 61
31494287 2019
48
Antiepileptogenic effects of Ethosuximide and Levetiracetam in WAG/Rij rats are only temporary. 61
31386986 2019
49
Time perception in childhood absence epilepsy: Findings from a pilot study. 61
31470222 2019
50
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019

Variations for Childhood Absence Epilepsy

ClinVar genetic disease variations for Childhood Absence Epilepsy:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_001163213.1(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic/Likely pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
4 SCN1A NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)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.710A>G (p.Gln237Arg)SNV Likely benign 477869 rs76773579 5:161117243-161117243 5:161690237-161690237
15 GABRA6 NM_000811.3(GABRA6):c.560C>T (p.Thr187Met)SNV Benign 477866 rs3811993 5:161116672-161116672 5:161689666-161689666
16 GABRA6 NM_000811.3(GABRA6):c.639A>G (p.Gln213=)SNV Benign 477867 rs34826485 5:161116751-161116751 5:161689745-161689745
17 GABRA6 NM_000811.3(GABRA6):c.805G>A (p.Val269Ile)SNV Benign 707554 5:161117338-161117338 5:161690332-161690332
18 GABRA6 NM_000811.3(GABRA6):c.594C>A (p.Val198=)SNV Benign 767175 5:161116706-161116706 5:161689700-161689700
19 GABRA6 NM_000811.3(GABRA6):c.60A>G (p.Lys20=)SNV Benign 715115 5:161113257-161113257 5:161686251-161686251

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
12.95 SCN1B CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
4
Show member pathways
12.89 KCNK9 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
5
Show member pathways
12.82 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
6
Show member pathways
12.81 SLC2A1 KCNK9 CACNA1I CACNA1H CACNA1G
7
Show member pathways
12.79 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
8
Show member pathways
12.78 FGFR3 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
12.48 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
12.21 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 11.32 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 10.39 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
3 plasma membrane GO:0005886 10.33 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
4 synapse GO:0045202 10.15 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
5 cell junction GO:0030054 10.1 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
6 dendrite GO:0030425 10 GABRG2 GABRA5 GABBR1 CHRNA4 CACNG3 CACNA1A
7 GABA-ergic synapse GO:0098982 9.88 GABRG2 GABRB3 GABRA5 GABRA1 GABBR1
8 postsynaptic membrane GO:0045211 9.87 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
9 postsynapse GO:0098794 9.85 GABRG2 GABRA6 GABRA5 GABRA1
10 dendrite membrane GO:0032590 9.81 GABRG2 GABRA6 GABRA5 GABRA1
11 neuron projection GO:0043005 9.81 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
12 chloride channel complex GO:0034707 9.77 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
13 voltage-gated sodium channel complex GO:0001518 9.73 SCN1B CACNA1I CACNA1H CACNA1G
14 voltage-gated calcium channel complex GO:0005891 9.65 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
15 integral component of plasma membrane GO:0005887 9.44 SLC2A1 SCN1B PCDH19 KCNK9 GABRG2 GABRB3
16 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 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 10.03 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 calcium ion transmembrane transport GO:0070588 9.95 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
6 regulation of ion transmembrane transport GO:0034765 9.95 SCN1B CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
7 calcium ion transport GO:0006816 9.93 CHRNA4 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
8 chloride transmembrane transport GO:1902476 9.92 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
9 chloride transport GO:0006821 9.91 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
10 sodium ion transmembrane transport GO:0035725 9.88 SCN1B CACNA1I CACNA1H CACNA1G
11 regulation of postsynaptic membrane potential GO:0060078 9.85 GABRG2 GABRA6 GABRA5 GABRA1 GABBR1 CHRNA4
12 calcium ion import GO:0070509 9.8 CACNA1I CACNA1H CACNA1G CACNA1A
13 nervous system process GO:0050877 9.8 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
14 neuronal action potential GO:0019228 9.77 CACNA1I CACNA1H CACNA1G
15 membrane depolarization GO:0051899 9.77 SCN1B CHRNA4 CACNA1A
16 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.75 CACNA1I CACNA1H CACNA1G
17 membrane depolarization during action potential GO:0086010 9.74 CACNA1I CACNA1H CACNA1G
18 inhibitory synapse assembly GO:1904862 9.73 GABRG2 GABRB3 GABRA1
19 synaptic transmission, GABAergic GO:0051932 9.73 GABRG2 GABRA6 GABRA5 GABRA1
20 cellular response to histamine GO:0071420 9.71 GABRG2 GABRB3 GABRA1
21 gamma-aminobutyric acid signaling pathway GO:0007214 9.7 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
22 innervation GO:0060384 9.65 GABRB3 GABRA5
23 action potential GO:0001508 9.64 CHRNA4 CACNA1G
24 transmission of nerve impulse GO:0019226 9.64 CACNG3 CACNA1A
25 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1B CACNA1G
26 inner ear receptor cell development GO:0060119 9.62 GABRB3 GABRA5
27 inhibitory postsynaptic potential GO:0060080 9.61 GABRB3 CHRNA4
28 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.61 SCN1B CACNA1G
29 regulation of membrane potential GO:0042391 9.61 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
30 ion transport GO:0006811 9.44 SCN1B KCNK9 GABRG2 GABRB3 GABRA6 GABRA5

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 10.08 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 GABBR1
2 calcium channel activity GO:0005262 9.95 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
3 voltage-gated ion channel activity GO:0005244 9.95 SCN1B CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
4 chloride channel activity GO:0005254 9.91 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.85 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
6 voltage-gated sodium channel activity GO:0005248 9.83 SCN1B CACNA1I CACNA1H CACNA1G
7 voltage-gated calcium channel activity GO:0005245 9.83 CACNG3 CACNA1I CACNA1H CACNA1G CACNA1A
8 neurotransmitter receptor activity GO:0030594 9.8 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
9 cation channel activity GO:0005261 9.73 CACNA1I CACNA1H CACNA1G
10 benzodiazepine receptor activity GO:0008503 9.71 GABRG2 GABRA6 GABRA5 GABRA1
11 low voltage-gated calcium channel activity GO:0008332 9.67 CACNA1I CACNA1H CACNA1G
12 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.67 GABRG2 GABRA6 GABRA5 GABRA1
13 GABA-A receptor activity GO:0004890 9.65 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
14 extracellular ligand-gated ion channel activity GO:0005230 9.63 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1 CHRNA4
15 GABA-gated chloride ion channel activity GO:0022851 9.35 GABRG2 GABRB3 GABRA6 GABRA5 GABRA1
16 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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