MCID: CHL002
MIFTS: 59

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 26 60 38 56 6 15
Absence Seizures 30 56 6
Pyknolepsy 12 26 60
Absence Epilepsy, Childhood 26
Petit Mal Epilepsy 26
Petit Mal Seizure 12
Epilepsy, Absence 45
Absence Epilepsy 74
Absence Seizure 12
Pykno-Epilepsy 26

Characteristics:

Orphanet epidemiological data:

60
childhood absence epilepsy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1825
KEGG 38 H02215
MeSH 45 D004832
NCIt 51 C3023
SNOMED-CT 69 16757004 79631006
ICD10 via Orphanet 35 G40.3
Orphanet 60 ORPHA64280
UMLS 74 C0014553

Summaries for Childhood Absence Epilepsy

Genetics Home Reference : 26 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.

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 CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H), and among its related pathways/superpathways are GABAergic synapse and Activation of cAMP-Dependent PKA. The drugs Ivermectin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and thalamus, and related phenotypes are behavior/neurological and nervous system

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.

Wikipedia : 77 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 2
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 85)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 33.2 CACNA1H CLCN2 GABRA1
2 epilepsy, childhood absence 1 32.1 ECA1 GABRB3
3 epilepsy, idiopathic generalized 10 32.0 CHRNA4 CLCN2 GABBR1 GABRA1 GABRA6 GABRB3
4 early onset absence epilepsy 31.9 SCN1B SLC2A1
5 epilepsy, idiopathic generalized 31.1 CACNA1A CACNA1H CHRNA4 CLCN2 GABBR1 GABRA1
6 epilepsy 30.5 CACNA1A CACNA1H CHRNA4 CLCN2 GABBR1 GABRA1
7 benign epilepsy with centrotemporal spikes 30.4 GABRG2 SCN1B SLC2A1
8 febrile seizures 30.3 CHRNA4 GABRG2 SCN1B
9 lennox-gastaut syndrome 30.2 GABRA1 GABRB3 GABRG2 SLC2A1
10 focal epilepsy 30.2 CACNA1H CHRNA4 GABRA5 GABRG2 SLC2A1
11 epileptic encephalopathy, early infantile, 6 29.8 GABRA1 GABRB3 GABRG2 PCDH19 SCN1B
12 epilepsy, childhood absence 6 11.5
13 generalized epilepsy with febrile seizures plus, type 3 11.4
14 epilepsy, idiopathic generalized 13 11.2
15 glut1 deficiency syndrome 2 11.2
16 megaloblastic anemia due to dihydrofolate reductase deficiency 11.2
17 epilepsy, juvenile absence 1 11.1
18 epilepsy, juvenile myoclonic 10 11.0
19 chd2 myoclonic encephalopathy 11.0
20 myoclonic epilepsy of lafora 10.8
21 generalized epilepsy with febrile seizures plus, type 1 10.8
22 glut1 deficiency syndrome 1 10.8
23 epilepsy, idiopathic generalized 11 10.8
24 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 10.8
25 epilepsy, idiopathic generalized 8 10.8
26 epilepsy, idiopathic generalized 12 10.8
27 epileptic encephalopathy, early infantile, 19 10.8
28 myoclonic-atonic epilepsy 10.8
29 epilepsy, idiopathic generalized 14 10.8
30 epilepsy, idiopathic generalized 15 10.8
31 status epilepticus 10.8
32 continuous spike-wave during slow sleep syndrome 10.8
33 epilepsy with myoclonic-atonic seizures 10.8
34 scn8a encephalopathy 10.8
35 genetic epilepsy with febrile seizures plus 10.8
36 adolescence-adult electroclinical syndrome 10.2 CACNA1H CLCN2 GABRA1 GABRB3 GABRG2
37 early myoclonic encephalopathy 10.2
38 angelman syndrome 10.2 GABRA5 GABRB3 GABRG2 NIPA2
39 aminoaciduria 10.2
40 polymyositis 10.2
41 infancy electroclinical syndrome 10.2 GABRG2 PCDH19 SCN1B
42 seizures, benign familial infantile, 3 10.2 CHRNA4 GABRG2 SCN1B
43 epilepsy, nocturnal frontal lobe, 1 10.1 CHRNA4 GABRG2 SCN1B
44 familial hyperaldosteronism 10.1 CACNA1H CLCN2
45 childhood electroclinical syndrome 10.1 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 NIPA2
46 seizure disorder 10.0
47 epilepsy, childhood absence 2 10.0
48 myoclonic epilepsy of infancy 9.8
49 attention deficit-hyperactivity disorder 9.8
50 aging 9.8

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



Diseases related to Childhood Absence Epilepsy

Symptoms & Phenotypes for Childhood Absence Epilepsy

UMLS symptoms related to Childhood Absence Epilepsy:


seizures, absence attacks, absence seizures

MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4 CLCN2
2 nervous system MP:0003631 10.09 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4 CLCN2
3 growth/size/body region MP:0005378 10.06 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3 GABBR1
4 homeostasis/metabolism MP:0005376 10.03 CACNA1A CACNA1G CACNG3 CHRNA4 CLCN2 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 top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
2 Anti-Infective Agents Phase 4
3 Antiparasitic Agents Phase 4
4 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5
Lamotrigine Approved, Investigational Phase 3,Phase 1 84057-84-1 3878
6
Valproic Acid Approved, Investigational Phase 3,Phase 1 99-66-1 3121
7
Ethosuximide Approved Phase 3 77-67-8 3291
8 Strawberry Approved Phase 3
9
tannic acid Approved Phase 3 1401-55-4
10
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
11
Ethanol Approved Phase 3 64-17-5 702
12
Rufinamide Approved Phase 3 106308-44-5 129228
13
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
14
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
15
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
16
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1 7440-70-2 271
17 GABA Agents Phase 3,Phase 1
18 Tranquilizing Agents Phase 3,Phase 1
19 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
20 Antipsychotic Agents Phase 3,Phase 1
21 Calcium, Dietary Phase 3,Phase 2,Phase 1
22 Psychotropic Drugs Phase 3,Phase 1
23 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
24 Hormones Phase 3,Phase 2,Phase 1
25 calcium channel blockers Phase 3,Phase 2,Phase 1
26 Neurotransmitter Agents Phase 3,Phase 1
27 Antimanic Agents Phase 3,Phase 1
28 Central Nervous System Depressants Phase 3,Phase 1
29 Pharmaceutical Solutions Phase 3,Phase 2
30 Epidiolex Phase 3,Phase 2
31 Hypnotics and Sedatives Phase 3
32 Anesthetics, General Phase 3
33 Anti-Anxiety Agents Phase 3
34 Adjuvants, Anesthesia Phase 3
35 GABA Modulators Phase 3
36 Anesthetics Phase 3
37 Anesthetics, Intravenous Phase 3
38 Serotonin Agents Phase 3
39 Serotonin Uptake Inhibitors Phase 3
40 Neurotransmitter Uptake Inhibitors Phase 3
41 Sunflower Phase 3
42
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
43
Topiramate Approved Phase 2 97240-79-4 5284627
44
Levetiracetam Approved, Investigational Phase 2,Not Applicable 102767-28-2 441341
45
Verapamil Approved Phase 2 52-53-9 2520
46
Glycerol Approved, Investigational Phase 2 56-81-5 753
47 Hypoglycemic Agents Phase 2
48 Nootropic Agents Phase 2,Not Applicable
49 Anti-Arrhythmia Agents Phase 2
50 Vasodilator Agents Phase 2

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy Completed NCT03052998 Phase 4 Ivermectin
2 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 ethosuximide;lamotrigine;valproic acid
3 Clinical Study of Lamotrigine to Treat Newly Diagnosed Typical Absence Seizure in Children and Adolescents Completed NCT01431976 Phase 3 Lamictal
4 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P; CBD) as Adjunctive Treatment for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults Completed NCT02224690 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo
5 Efficacy and Safety of GWP42003-P for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults Completed NCT02224560 Phase 3 GWP42003-P;Placebo control
6 A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304) Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
7 A Long Term Extension Study of E2080 in Lennox-Gastaut Patients Completed NCT01151540 Phase 3 Rufinamide
8 Open-label Study of Midazolam Hydrochloride Oromucosal Solution (MHOS/SHP615) in Children With Status Epilepticus (Convulsive) in a Healthcare Setting in Japan Recruiting NCT03336645 Phase 3 SHP615
9 Study of Midazolam Hydrochloride Oromucosal Solution (MHOS/SHP615) in Pediatric Patients With Status Epilepticus (Convulsive) in the Community Setting Recruiting NCT03336450 Phase 3 SHP615;MHOS/SHP615
10 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
11 Treatment of Sunflower Syndrome With ZX008 (Fenfluramine Hydrochloride) in Children and Young Adults (Ages 4-25). Not yet recruiting NCT03790137 Phase 3 Fenfluramine Hydrochloride
12 Assessment of the Efficacy and Safety of 2 Doses of Retigabine Immediate Release (900 mg/Day and 600 mg/Day) Used as Adjunctive Therapy in Adult Asian Subjects With Drug-resistant Partial-onset Seizures Terminated NCT01648101 Phase 3 Retigabine 900mg/day;Retigabine 600mg/day
13 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
14 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
15 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2 Levetiracetam
16 Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118949 Phase 2 Lacosamide
17 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
18 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Completed NCT01993186 Phase 2 UX007 (triheptanoin);Placebo Oil
19 Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118962 Phase 2 Lacosamide
20 Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
21 Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03355300 Phase 2 Cannabidiol Oral Solution
22 A Phase 2 Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Active, not recruiting NCT03406702 Phase 2 CX-8998
23 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
24 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1 Valproic Acid
25 Does Body Positioning Affect the Yield of Hyperventilation in Routine Pediatric Electroencephalography - EEG Studies? Unknown status NCT02766595 Not Applicable
26 Personalizing Health Outcome in Epilepsy Now - An Introduction to Clinical Services Unknown status NCT01533649 Not Applicable
27 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589 Not Applicable
28 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Not Applicable Levetiracetam
29 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
30 Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study Completed NCT00041951
31 Magnetoencephalography in Absence Seizures Completed NCT00884351
32 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905
33 Insula-coil Deep TMS for Treatment Resistant Anorexia Nervosa Completed NCT03144986 Not Applicable
34 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy Completed NCT01178437 Not Applicable
35 Study to Investigate Dosage, Efficacy, and Safety of Fycompa in Routine Clinical Care of Patients With Epilepsy Completed NCT03208660 Fycompa
36 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543 Not Applicable
37 Longitudinal Early Epilepsy Study Recruiting NCT02954107
38 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures Active, not recruiting NCT02819427
39 Supporting Treatment Adherence Regimens in Pediatric Epilepsy: The STAR Trial Active, not recruiting NCT01851057 Not Applicable

Search NIH Clinical Center for Childhood Absence Epilepsy

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30

Anatomical Context for Childhood Absence Epilepsy

MalaCards organs/tissues related to Childhood Absence Epilepsy:

42
Brain, Cortex, Thalamus, Temporal Lobe, Breast, Testes, Subthalamic Nucleus

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 589)
# Title Authors Year
1
Cognitive impairment in the WAG/Rij rat absence model is secondary to absence seizures and depressive-like behavior. ( 31095993 )
2019
2
Coenzyme Q10 increases absence seizures in WAG/Rij rats: The role of the nitric oxide pathway. ( 31071589 )
2019
3
Clinical Case Presentation on Absence Seizures Diagnosis and Treatment Care Services and Outcomes in an Adult Patient. ( 30765995 )
2019
4
Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. ( 30734919 )
2019
5
Electroclinical Features of Generalized Paroxysmal Fast Activity in Typical Absence Seizures. ( 30394946 )
2019
6
Rasmussen syndrome: absence seizures may be induced by oxcarbazepine. ( 30767898 )
2019
7
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. ( 31054517 )
2019
8
Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features. ( 31035243 )
2019
9
A case of childhood absence epilepsy with focal spikes. ( 30880214 )
2019
10
Historical trend toward improved long-term outcome in childhood absence epilepsy. ( 30856420 )
2019
11
Source localization of epileptiform discharges in childhood absence epilepsy using a distributed source model: a standardized, low-resolution, brain electromagnetic tomography (sLORETA) study. ( 30756246 )
2019
12
Outgrowing seizures in Childhood Absence Epilepsy: time delays and bistability. ( 30737596 )
2019
13
A Practical Guide to Treatment of Childhood Absence Epilepsy. ( 30734897 )
2019
14
Ictal Source Locations and Cortico-Thalamic Connectivity in Childhood Absence Epilepsy: Associations with Treatment Response. ( 30291582 )
2019
15
Long-term prognosis of childhood absence epilepsy. ( 28325560 )
2019
16
Concomitance of benign epilepsy with centrotemporal spikes and childhood absence epilepsy: an unusual case. ( 31011933 )
2019
17
Rare and Treatable Cause of Early-Onset Refractory Absence Seizures. ( 30271476 )
2018
18
Impact of strain, sex, and estrous cycle on gamma butyrolactone-evoked absence seizures in rats. ( 30261353 )
2018
19
Amantadine for the Treatment of Refractory Absence Seizures in Children. ( 30090124 )
2018
20
Suppression of Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel Function in Thalamocortical Neurons Prevents Genetically Determined and Pharmacologically Induced Absence Seizures. ( 29925625 )
2018
21
How to select the appropriate pharmacotherapy for absence seizures in children. ( 29924667 )
2018
22
Long-term efficacy and safety of lamotrigine monotherapy in Japanese and South Korean pediatric patients with newly diagnosed typical absence seizures: An open-label extension study. ( 29861154 )
2018
23
Asynchronous suppression of visual cortex during absence seizures in stargazer mice. ( 29769525 )
2018
24
Genetic rescue of absence seizures. ( 29687641 )
2018
25
Cortical drive and thalamic feed-forward inhibition control thalamic output synchrony during absence seizures. ( 29662216 )
2018
26
Controlling mechanism of absence seizures by deep brain stimulus applied on subthalamic nucleus. ( 29435091 )
2018
27
A brief history of typical absence seizures - Petit mal revisited. ( 29402631 )
2018
28
Generalized nonmotor (absence) seizures-What do absence, generalized, and nonmotor mean? ( 29327337 )
2018
29
Myoclonic absence seizures with complex gestural automatisms. ( 29325826 )
2018
30
Ictal single photon emission computed tomographic study of myoclonic absence seizures. ( 28823645 )
2018
31
Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy. ( 30029089 )
2018
32
Ictal nose wiping in childhood absence epilepsy: A case series. ( 30007588 )
2018
33
Whole-brain MEG connectivity-based analyses reveals critical hubs in childhood absence epilepsy. ( 29936300 )
2018
34
Mutational screening of GABRG2 gene in Pakistani population of Punjab with generalized tonic clonic seizures and children with childhood absence epilepsy. ( 29929832 )
2018
35
Consecutive occurrence of benign epilepsy with centro-temporal spike and childhood absence epilepsy: true coexistence or atypical evolution? ( 29790011 )
2018
36
Sleep architecture and epileptic characteristics of drug naïve patients in childhood absence epilepsy spectrum. A prospective study. ( 29787924 )
2018
37
Behavior Problems in Childhood Absence Epilepsy: A Chicken or Egg Problem. ( 29670485 )
2018
38
Ictal connectivity in childhood absence epilepsy: Associations with outcome. ( 29633248 )
2018
39
The cortical focus in childhood absence epilepsy; evidence from nonlinear analysis of scalp EEG recordings. ( 29414404 )
2018
40
Modeling pathogenesis and treatment response in childhood absence epilepsy. ( 29265352 )
2018
41
Attention profiles in childhood absence epilepsy compared with attention-deficit/hyperactivity disorder. ( 28992996 )
2018
42
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. ( 29194766 )
2018
43
Exceptional response to brivaracetam in a patient with refractory idiopathic generalized epilepsy and absence seizures. ( 29160210 )
2018
44
Detection of Paroxysms in Long-Term, Single-Channel EEG-Monitoring of Patients with Typical Absence Seizures. ( 29018634 )
2017
45
Building Up Absence Seizures in the Somatosensory Cortex: From Network to Cellular Epileptogenic Processes. ( 28922856 )
2017
46
Functional connectivity of the hippocampus to the thalamocortical circuitry in an animal model of absence seizures. ( 28886474 )
2017
47
Quantify neuromagnetic network changes from pre-ictal to ictal activities in absence seizures. ( 28576731 )
2017
48
Control of Absence Seizures by the Thalamic Feed-Forward Inhibition. ( 28491031 )
2017
49
Eliminating Absence Seizures through the Deep Brain Stimulation to Thalamus Reticular Nucleus. ( 28469569 )
2017
50
Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. ( 28195639 )
2017

Variations for Childhood Absence Epilepsy

ClinVar genetic disease variations for Childhood Absence Epilepsy:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN9A NM_002977.3(SCN9A): c.3295T> C (p.Ser1099Pro) single nucleotide variant Uncertain significance rs1553486581 GRCh38 Chromosome 2, 166272422: 166272422
2 SCN9A NM_002977.3(SCN9A): c.3295T> C (p.Ser1099Pro) single nucleotide variant Uncertain significance rs1553486581 GRCh37 Chromosome 2, 167128932: 167128932
3 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance
4 PCDH19 NM_001184880.1(PCDH19): c.1091dupC (p.Tyr366Leufs) duplication Pathogenic rs758946412 GRCh38 Chromosome X, 100407507: 100407507
5 PCDH19 NM_001184880.1(PCDH19): c.1091dupC (p.Tyr366Leufs) duplication Pathogenic rs758946412 GRCh37 Chromosome X, 99662505: 99662505
6 ASF1A; CEP85L; DCBLD1; FAM184A; GOPC; MCM9; NUS1; PLN; SLC35F1 NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 117810940: 119417749
7 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh38 Chromosome 2, 166015636: 166015636
8 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh37 Chromosome 2, 166872146: 166872146
9 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
10 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
11 GABRA6 NM_000811.2(GABRA6): c.507T> C (p.Ala169=) single nucleotide variant Likely benign rs1400096249 GRCh37 Chromosome 5, 161116320: 161116320
12 GABRA6 NM_000811.2(GABRA6): c.507T> C (p.Ala169=) single nucleotide variant Likely benign rs1400096249 GRCh38 Chromosome 5, 161689314: 161689314
13 GABRA6 NM_000811.2(GABRA6): c.1156G> A (p.Glu386Lys) single nucleotide variant Uncertain significance rs773585316 GRCh38 Chromosome 5, 161701567: 161701567
14 GABRA6 NM_000811.2(GABRA6): c.1156G> A (p.Glu386Lys) single nucleotide variant Uncertain significance rs773585316 GRCh37 Chromosome 5, 161128573: 161128573
15 GABRA6 NM_000811.2(GABRA6): c.639A> G (p.Gln213=) single nucleotide variant Benign rs34826485 GRCh38 Chromosome 5, 161689745: 161689745
16 GABRA6 NM_000811.2(GABRA6): c.639A> G (p.Gln213=) single nucleotide variant Benign rs34826485 GRCh37 Chromosome 5, 161116751: 161116751
17 GABRA6 NM_000811.2(GABRA6): c.371C> G (p.Ser124Cys) single nucleotide variant Uncertain significance rs1554115593 GRCh38 Chromosome 5, 161689094: 161689094
18 GABRA6 NM_000811.2(GABRA6): c.371C> G (p.Ser124Cys) single nucleotide variant Uncertain significance rs1554115593 GRCh37 Chromosome 5, 161116100: 161116100
19 GABRA6 NM_000811.2(GABRA6): c.339G> A (p.Thr113=) single nucleotide variant Likely benign rs113239794 GRCh38 Chromosome 5, 161689062: 161689062
20 GABRA6 NM_000811.2(GABRA6): c.339G> A (p.Thr113=) single nucleotide variant Likely benign rs113239794 GRCh37 Chromosome 5, 161116068: 161116068
21 GABRA6 NM_000811.2(GABRA6): c.1053A> C (p.Lys351Asn) single nucleotide variant Likely benign rs750458393 GRCh38 Chromosome 5, 161692167: 161692167
22 GABRA6 NM_000811.2(GABRA6): c.1053A> C (p.Lys351Asn) single nucleotide variant Likely benign rs750458393 GRCh37 Chromosome 5, 161119173: 161119173
23 GABRA6 NM_000811.2(GABRA6): c.847A> G (p.Met283Val) single nucleotide variant Uncertain significance rs1554115829 GRCh37 Chromosome 5, 161118967: 161118967
24 GABRA6 NM_000811.2(GABRA6): c.847A> G (p.Met283Val) single nucleotide variant Uncertain significance rs1554115829 GRCh38 Chromosome 5, 161691961: 161691961
25 GABRA6 NM_000811.2(GABRA6): c.710A> G (p.Gln237Arg) single nucleotide variant Likely benign rs76773579 GRCh37 Chromosome 5, 161117243: 161117243
26 GABRA6 NM_000811.2(GABRA6): c.710A> G (p.Gln237Arg) single nucleotide variant Likely benign rs76773579 GRCh38 Chromosome 5, 161690237: 161690237
27 GABRA6 NM_000811.2(GABRA6): c.560C> T (p.Thr187Met) single nucleotide variant Benign rs3811993 GRCh37 Chromosome 5, 161116672: 161116672
28 GABRA6 NM_000811.2(GABRA6): c.560C> T (p.Thr187Met) single nucleotide variant Benign rs3811993 GRCh38 Chromosome 5, 161689666: 161689666
29 GABRA6 NM_000811.2(GABRA6): c.663A> G (p.Lys221=) single nucleotide variant Likely benign rs200968260 GRCh38 Chromosome 5, 161689769: 161689769
30 GABRA6 NM_000811.2(GABRA6): c.663A> G (p.Lys221=) single nucleotide variant Likely benign rs200968260 GRCh37 Chromosome 5, 161116775: 161116775

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:

38
# Name Kegg Source Accession
1 GABAergic synapse hsa04727

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

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.46 CACNA1A CACNA1G CACNA1H CACNG3 CLCN2 FGFR3
2
Show member pathways
13.28 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
3
Show member pathways
12.9 CACNA1A CACNA1G CACNA1H CACNG3 SCN1B
4
Show member pathways
12.84 CACNA1G CACNA1H CACNG3 KCNK9 SCN1B SLC2A1
5
Show member pathways
12.84 CACNA1A CACNA1G CACNA1H CACNG3 GABRA1 GABRA5
6
Show member pathways
12.75 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
7
Show member pathways
12.71 CACNA1A CACNG3 CHRNA4 GABBR1 GABRA1 GABRA5
8 12.66 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
9
Show member pathways
12.46 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
10
Show member pathways
12.45 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
11
Show member pathways
12.38 CACNA1A CACNA1G CACNA1H CACNG3
12
Show member pathways
12.33 FGFR3 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
13
Show member pathways
12.32 CACNA1A CACNA1G CACNA1H CACNG3
14
Show member pathways
12.22 CACNA1A CACNA1G CACNA1H CACNG3
15 12.01 CACNA1A CACNA1G CACNA1H CACNG3
16
Show member pathways
11.98 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
17
Show member pathways
11.94 CACNA1A CACNA1G CACNA1H CACNG3
18
Show member pathways
11.94 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6
19 11.62 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
20 11.52 CACNA1A CACNA1G CACNA1H
21 11.49 CACNA1G CACNA1H SCN1B
22 11.48 CACNA1A CACNA1G CACNA1H CACNG3
23
Show member pathways
11.34 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
24 11.29 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
25
Show member pathways
10.88 GABRA1 GABRG2
26 10.77 CACNA1A CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3
27 10.66 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2

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 neuron projection GO:0043005 9.99 CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
2 postsynaptic membrane GO:0045211 9.91 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
3 postsynapse GO:0098794 9.85 GABRA1 GABRA5 GABRA6 GABRG2
4 GABA-ergic synapse GO:0098982 9.8 GABBR1 GABRA1 GABRA5 GABRB3 GABRG2
5 dendrite membrane GO:0032590 9.76 GABRA1 GABRA5 GABRA6 GABRG2
6 voltage-gated calcium channel complex GO:0005891 9.73 CACNA1A CACNA1G CACNA1H CACNG3
7 GABA-A receptor complex GO:1902711 9.55 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
8 integral component of plasma membrane GO:0005887 9.44 CACNA1H CHRNA4 CLCN2 FGFR3 GABBR1 GABRA1
9 chloride channel complex GO:0034707 9.43 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
10 membrane GO:0016020 10.43 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4 CLCN2
11 integral component of membrane GO:0016021 10.28 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4 CLCN2
12 plasma membrane GO:0005886 10.21 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4 CLCN2
13 cell junction GO:0030054 10.08 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
14 synapse GO:0045202 10.04 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
15 dendrite GO:0030425 10 CACNA1A CACNG3 CHRNA4 GABBR1 GABRA5 GABRG2

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.99 CACNA1A CACNA1G CACNA1H CLCN2 SLC2A1
2 regulation of ion transmembrane transport GO:0034765 9.97 CACNA1A CACNA1G CACNA1H CACNG3 CLCN2 SCN1B
3 chemical synaptic transmission GO:0007268 9.97 CACNA1A CACNA1G CHRNA4 GABRA1 GABRA5 GABRA6
4 ion transmembrane transport GO:0034220 9.96 CACNA1A CACNA1G CACNA1H CHRNA4 CLCN2 GABRA1
5 chloride transmembrane transport GO:1902476 9.93 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
6 calcium ion transport GO:0006816 9.92 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4
7 chloride transport GO:0006821 9.91 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
8 regulation of postsynaptic membrane potential GO:0060078 9.88 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRG2
9 nervous system process GO:0050877 9.87 CACNA1A CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3
10 calcium ion transmembrane transport GO:0070588 9.86 CACNA1A CACNA1G CACNA1H CACNG3
11 negative regulation of neuron apoptotic process GO:0043524 9.81 CACNA1A GABRA5 GABRB3
12 regulation of membrane potential GO:0042391 9.81 CACNA1A CACNA1G CACNA1H CHRNA4 GABRA1 GABRA5
13 synaptic transmission, GABAergic GO:0051932 9.78 GABRA1 GABRA5 GABRA6 GABRG2
14 calcium ion import GO:0070509 9.72 CACNA1A CACNA1G CACNA1H
15 membrane depolarization GO:0051899 9.71 CACNA1A CHRNA4 SCN1B
16 cellular response to histamine GO:0071420 9.69 GABRA1 GABRB3 GABRG2
17 regulation of neuron apoptotic process GO:0043523 9.63 GABRA5 GABRB3
18 innervation GO:0060384 9.62 GABRA5 GABRB3
19 transmission of nerve impulse GO:0019226 9.62 CACNA1A CACNG3
20 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.61 CACNA1G CACNA1H
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 CACNA1G SCN1B
22 membrane depolarization during action potential GO:0086010 9.6 CACNA1G CACNA1H
23 inhibitory postsynaptic potential GO:0060080 9.58 CHRNA4 GABRB3
24 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.58 CACNA1G SCN1B
25 inner ear receptor cell development GO:0060119 9.57 GABRA5 GABRB3
26 gamma-aminobutyric acid signaling pathway GO:0007214 9.5 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
27 ion transport GO:0006811 9.47 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4 CLCN2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.81 CACNA1A CACNA1G CACNA1H SCN1B
2 chloride channel activity GO:0005254 9.8 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
3 calcium channel activity GO:0005262 9.78 CACNA1A CACNA1G CACNA1H CACNG3
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.77 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
5 voltage-gated calcium channel activity GO:0005245 9.76 CACNA1A CACNA1G CACNA1H CACNG3
6 benzodiazepine receptor activity GO:0008503 9.73 GABRA1 GABRA5 GABRA6 GABRG2
7 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.71 GABRA1 GABRA5 GABRA6 GABRG2
8 GABA-A receptor activity GO:0004890 9.65 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
9 extracellular ligand-gated ion channel activity GO:0005230 9.63 CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
10 low voltage-gated calcium channel activity GO:0008332 9.49 CACNA1G CACNA1H
11 GABA-gated chloride ion channel activity GO:0022851 9.35 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
12 ion channel activity GO:0005216 9.23 CACNA1A CACNA1G CHRNA4 GABRA1 GABRA5 GABRA6

Sources for Childhood Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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