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 25 59 37 55 6 15
Absence Seizures 29 55 6
Pyknolepsy 12 25 59
Absence Epilepsy, Childhood 25
Petit Mal Epilepsy 25
Petit Mal Seizure 12
Epilepsy, Absence 44
Absence Epilepsy 73
Absence Seizure 12
Pykno-Epilepsy 25

Characteristics:

Orphanet epidemiological data:

59
childhood absence epilepsy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1825
MeSH 44 D004832
NCIt 50 C3023
SNOMED-CT 68 16757004 79631006
Orphanet 59 ORPHA64280
ICD10 via Orphanet 34 G40.3
KEGG 37 H02215
UMLS 73 C0014553

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.

MalaCards based summary : Childhood Absence Epilepsy, also known as absence seizures, is related to juvenile absence epilepsy and epilepsy, idiopathic generalized 10, and has symptoms including seizures, absence seizures and absence attacks. 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, bone and breast, 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 : 76 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 77)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 32.9 CACNA1H CLCN2 GABRA1
2 epilepsy, idiopathic generalized 10 32.0 CHRNA4 CLCN2 GABBR1 GABRA1 GABRA6 GABRB3
3 epilepsy, childhood absence 1 31.9 ECA1 GABRB3
4 early onset absence epilepsy 31.8 SCN1B SLC2A1
5 epilepsy, idiopathic generalized 31.2 CACNA1A CACNA1H CACNG3 CHRNA4 CLCN2 GABBR1
6 epilepsy 30.8 CACNA1A CACNA1H CHRNA4 CLCN2 GABBR1 GABRA1
7 benign epilepsy with centrotemporal spikes 30.2 GABRG2 SCN1B SLC2A1
8 febrile seizures 30.2 CHRNA4 GABRG2 SCN1B
9 lennox-gastaut syndrome 30.0 GABRA1 GABRB3 GABRG2 SLC2A1
10 focal epilepsy 29.9 CACNA1H CHRNA4 GABRA5 GABRG2 SLC2A1
11 epileptic encephalopathy, early infantile, 6 29.8 GABRA1 GABRB3 GABRG2 PCDH19 SCN1B
12 epilepsy, idiopathic generalized 13 11.1
13 epilepsy, childhood absence 6 11.1
14 glut1 deficiency syndrome 2 11.1
15 megaloblastic anemia due to dihydrofolate reductase deficiency 11.1
16 epilepsy, juvenile absence 1 11.1
17 generalized epilepsy with febrile seizures plus, type 3 11.0
18 epilepsy, childhood absence 2 10.9
19 epilepsy, childhood absence 5 10.9
20 epilepsy, juvenile myoclonic 10 10.9
21 chd2 myoclonic encephalopathy 10.9
22 myoclonic epilepsy of lafora 10.8
23 generalized epilepsy with febrile seizures plus, type 1 10.8
24 glut1 deficiency syndrome 1 10.8
25 epilepsy, idiopathic generalized 11 10.8
26 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 10.8
27 epilepsy, idiopathic generalized 8 10.8
28 epilepsy, idiopathic generalized 12 10.8
29 epileptic encephalopathy, early infantile, 19 10.8
30 myoclonic-atonic epilepsy 10.8
31 epilepsy, idiopathic generalized 14 10.8
32 status epilepticus 10.8
33 continuous spike-wave during slow sleep syndrome 10.8
34 epilepsy with myoclonic-atonic seizures 10.8
35 scn8a encephalopathy 10.8
36 genetic epilepsy with febrile seizures plus 10.8
37 seizure disorder 10.3
38 aminoaciduria 10.2
39 adolescence-adult electroclinical syndrome 10.1 CACNA1H CLCN2 GABRA1 GABRB3 GABRG2
40 angelman syndrome 10.1 GABRA5 GABRB3 GABRG2 NIPA2
41 infancy electroclinical syndrome 10.1 GABRG2 PCDH19 SCN1B
42 seizures, benign familial infantile, 3 10.1 CHRNA4 GABRG2 SCN1B
43 generalized epilepsy with febrile seizures plus 10.1 GABRA1 GABRG2 SCN1B
44 epilepsy, nocturnal frontal lobe, 1 10.1 CHRNA4 GABRG2 SCN1B
45 familial hyperaldosteronism 10.1 CACNA1H CLCN2
46 childhood electroclinical syndrome 10.1 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 NIPA2
47 early myoclonic encephalopathy 9.8
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 seizures, absence attacks

MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

46
# 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 all 46)
# 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
Ethosuximide Approved Phase 3 77-67-8 3291
6
Lamotrigine Approved, Investigational Phase 3,Phase 1 84057-84-1 3878
7
Valproic Acid Approved, Investigational Phase 3,Phase 1 99-66-1 3121
8
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
9 Strawberry Approved Phase 3
10
Ethanol Approved Phase 3 64-17-5 702
11 tannic acid Approved Phase 3
12
Lacosamide Approved Phase 3,Phase 2 175481-36-4, 860352-01-8 219078
13
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
14
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
15 Diuretics, Potassium Sparing Phase 3,Phase 1
16 Excitatory Amino Acid Antagonists Phase 3,Phase 1
17 Central Nervous System Depressants Phase 3,Phase 1
18 Calcium, Dietary Phase 3,Phase 2,Phase 1
19 GABA Agents Phase 3,Phase 1
20 Antimanic Agents Phase 3,Phase 1
21 Tranquilizing Agents Phase 3,Phase 1
22 Sodium Channel Blockers Phase 3,Phase 1
23 calcium channel blockers Phase 3,Phase 2,Phase 1
24 Psychotropic Drugs Phase 3,Phase 1
25 Neurotransmitter Agents Phase 3,Phase 1
26 Excitatory Amino Acids Phase 3,Phase 1
27 Pharmaceutical Solutions Phase 3,Phase 2
28 Anti-Anxiety Agents Phase 3
29 GABA Modulators Phase 3
30 Anesthetics Phase 3
31 Adjuvants, Anesthesia Phase 3
32 Anesthetics, Intravenous Phase 3
33 Hypnotics and Sedatives Phase 3
34 Anesthetics, General Phase 3
35
Topiramate Approved Phase 2 97240-79-4 5284627
36 Piracetam Approved, Investigational Phase 2,Not Applicable 7491-74-9
37
Verapamil Approved Phase 2 52-53-9 2520
38
Glycerol Approved, Investigational Phase 2 56-81-5 753
39 Etiracetam Investigational Phase 2,Not Applicable 33996-58-6
40 Protective Agents Phase 2,Not Applicable
41 Neuroprotective Agents Phase 2,Not Applicable
42 Anti-Obesity Agents Phase 2
43 Nootropic Agents Phase 2,Not Applicable
44 Vasodilator Agents Phase 2
45 Anti-Arrhythmia Agents Phase 2
46 Convulsants Not Applicable

Interventional clinical trials:

(show all 38)
# 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 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
8 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
9 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
10 Treatment of Sunflower Syndrome With ZX008 (Fenfluramine Hydrochloride) in Children and Young Adults (Ages 4-25). Not yet recruiting NCT03790137 Phase 3 Fenfluramine Hydrochloride
11 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
12 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
13 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
14 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2 Levetiracetam
15 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
16 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
17 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
18 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
19 Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
20 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
21 A Phase 2 Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Recruiting NCT03406702 Phase 2 CX-8998
22 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
23 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1 Valproic Acid
24 Does Body Positioning Affect the Yield of Hyperventilation in Routine Pediatric Electroencephalography - EEG Studies? Unknown status NCT02766595 Not Applicable
25 Personalizing Health Outcome in Epilepsy Now - An Introduction to Clinical Services Unknown status NCT01533649 Not Applicable
26 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589 Not Applicable
27 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Not Applicable Levetiracetam
28 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
29 Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study Completed NCT00041951
30 Magnetoencephalography in Absence Seizures Completed NCT00884351
31 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905
32 Insula-coil Deep TMS for Treatment Resistant Anorexia Nervosa Completed NCT03144986 Not Applicable
33 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy Completed NCT01178437 Not Applicable
34 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543 Not Applicable
35 Longitudinal Early Epilepsy Study Recruiting NCT02954107
36 Study to Investigate Dosage, Efficacy, and Safety of Fycompa in Routine Clinical Care of Patients With Epilepsy Recruiting NCT03208660 Fycompa
37 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures Active, not recruiting NCT02819427
38 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 73 / NDF-RT 51 :


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:

41
Brain, Bone, Breast, Testes, Cortex, Thalamus, Temporal Lobe

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 549)
# Title Authors Year
1
Attention profiles in childhood absence epilepsy compared with attention-deficit/hyperactivity disorder. ( 28992996 )
2018
2
Behavior Problems in Childhood Absence Epilepsy: A Chicken or Egg Problem. ( 29670485 )
2018
3
Ictal connectivity in childhood absence epilepsy: Associations with outcome. ( 29633248 )
2018
4
Mutational screening of GABRG2 gene in Pakistani population of Punjab with generalized tonic clonic seizures and children with childhood absence epilepsy. ( 29929832 )
2018
5
Sleep architecture and epileptic characteristics of drug naA^ve patients in childhood absence epilepsy spectrum. A prospective study. ( 29787924 )
2018
6
Modeling pathogenesis and treatment response in childhood absence epilepsy. ( 29265352 )
2018
7
Consecutive occurrence of benign epilepsy with centro-temporal spike and childhood absence epilepsy: true coexistence or atypical evolution? ( 29790011 )
2018
8
Whole-brain MEG connectivity-based analyses reveals critical hubs in childhood absence epilepsy. ( 29936300 )
2018
9
The cortical focus in childhood absence epilepsy; evidence from nonlinear analysis of scalp EEG recordings. ( 29414404 )
2018
10
Ictal nose wiping in childhood absence epilepsy: A case series. ( 30007588 )
2018
11
Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy. ( 30029089 )
2018
12
Ictal Source Locations and Cortico-Thalamic Connectivity in Childhood Absence Epilepsy: Associations with Treatment Response. ( 30291582 )
2018
13
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. ( 29194766 )
2018
14
Exceptional response to brivaracetam in a patient with refractory idiopathic generalized epilepsy and absence seizures. ( 29160210 )
2018
15
Ictal single photon emission computed tomographic study of myoclonic absence seizures. ( 28823645 )
2018
16
Myoclonic absence seizures with complex gestural automatisms. ( 29325826 )
2018
17
Generalized nonmotor (absence) seizures-What do absence, generalized, and nonmotor mean? ( 29327337 )
2018
18
A brief history of typical absence seizures - Petit mal revisited. ( 29402631 )
2018
19
Controlling mechanism of absence seizures by deep brain stimulus applied on subthalamic nucleus. ( 29435091 )
2018
20
Cortical drive and thalamic feed-forward inhibition control thalamic output synchrony during absence seizures. ( 29662216 )
2018
21
Genetic rescue of absence seizures. ( 29687641 )
2018
22
Asynchronous suppression of visual cortex during absence seizures in stargazer mice. ( 29769525 )
2018
23
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
24
How to select the appropriate pharmacotherapy for absence seizures in children. ( 29924667 )
2018
25
Suppression of Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel Function in Thalamocortical Neurons Prevents Genetically Determined and Pharmacologically Induced Absence Seizures. ( 29925625 )
2018
26
Amantadine for the Treatment of Refractory Absence Seizures in Children. ( 30090124 )
2018
27
Impact of strain, sex, and estrous cycle on gamma butyrolactone-evoked absence seizures in rats. ( 30261353 )
2018
28
Rare and Treatable Cause of Early-Onset Refractory Absence Seizures. ( 30271476 )
2018
29
Electroclinical Features of Generalized Paroxysmal Fast Activity in Typical Absence Seizures. ( 30394946 )
2018
30
Attention Contributes to Arithmetic Deficits in New-Onset Childhood Absence Epilepsy. ( 28959217 )
2017
31
Disrupted topological organization of structural brain networks in childhood absence epilepsy. ( 28931825 )
2017
32
Long-term prognosis of childhood absence epilepsy. ( 28325560 )
2017
33
Altered degree centrality in childhood absence epilepsy: A resting-state fMRI study. ( 28131205 )
2017
34
Pretreatment behavior and subsequent medication effects in childhood absence epilepsy. ( 28916534 )
2017
35
Comparative analysis of background EEG activity in childhood absence epilepsy during valproate treatment: a standardized, low-resolution, brain electromagnetic tomography (sLORETA) study. ( 28466144 )
2017
36
Childhood absence epilepsy and benign epilepsy with centro-temporal spikes: a narrative review analysis. ( 28101769 )
2017
37
Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series. ( 28238620 )
2017
38
Second monotherapy in childhood absence epilepsy. ( 27986874 )
2017
39
Altered Effective Connectivity Network in Childhood Absence Epilepsy: A Multi-frequency MEG Study. ( 28286918 )
2017
40
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. ( 28165634 )
2017
41
Pretreatment seizure semiology in childhood absence epilepsy. ( 28724582 )
2017
42
Spatiotemporal propagation patterns of generalized ictal spikes in childhood absence epilepsy. ( 28709121 )
2017
43
Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents. ( 28195639 )
2017
44
Eliminating Absence Seizures through the Deep Brain Stimulation to Thalamus Reticular Nucleus. ( 28469569 )
2017
45
Control of Absence Seizures by the Thalamic Feed-Forward Inhibition. ( 28491031 )
2017
46
Quantify neuromagnetic network changes from pre-ictal to ictal activities in absence seizures. ( 28576731 )
2017
47
Functional connectivity of the hippocampus to the thalamocortical circuitry in an animal model of absence seizures. ( 28886474 )
2017
48
Building Up Absence Seizures in the Somatosensory Cortex: From Network to Cellular Epileptogenic Processes. ( 28922856 )
2017
49
Detection of Paroxysms in Long-Term, Single-Channel EEG-Monitoring of Patients with Typical Absence Seizures. ( 29018634 )
2017
50
Structural Abnormalities in Childhood Absence Epilepsy: Voxel-Based Analysis Using Diffusion Tensor Imaging. ( 27733824 )
2016

Variations for Childhood Absence Epilepsy

ClinVar genetic disease variations for Childhood Absence Epilepsy:

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

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:

37
# 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 CACNA1A CACNA1G CACNA1H CACNG3 GABRA1 GABRA5
5
Show member pathways
12.75 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
6
Show member pathways
12.71 CACNA1A CACNG3 CHRNA4 GABBR1 GABRA1 GABRA5
7 12.66 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
8
Show member pathways
12.65 CACNA1G CACNA1H CACNG3 KCNK9 SCN1B SLC2A1
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 ion transmembrane transport GO:0034220 9.96 CACNA1A CACNA1G CACNA1H CHRNA4 CLCN2 GABRA1
4 chloride transmembrane transport GO:1902476 9.93 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
5 calcium ion transport GO:0006816 9.92 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4
6 chloride transport GO:0006821 9.91 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
7 regulation of postsynaptic membrane potential GO:0060078 9.88 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRG2
8 nervous system process GO:0050877 9.87 CACNA1A CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3
9 calcium ion transmembrane transport GO:0070588 9.86 CACNA1A CACNA1G CACNA1H CACNG3
10 negative regulation of neuron apoptotic process GO:0043524 9.81 CACNA1A GABRA5 GABRB3
11 regulation of membrane potential GO:0042391 9.81 CACNA1A CACNA1G CACNA1H CHRNA4 GABRA1 GABRA5
12 synaptic transmission, GABAergic GO:0051932 9.78 GABRA1 GABRA5 GABRA6 GABRG2
13 calcium ion import GO:0070509 9.72 CACNA1A CACNA1G CACNA1H
14 membrane depolarization GO:0051899 9.71 CACNA1A CHRNA4 SCN1B
15 cellular response to histamine GO:0071420 9.69 GABRA1 GABRB3 GABRG2
16 regulation of neuron apoptotic process GO:0043523 9.63 GABRA5 GABRB3
17 innervation GO:0060384 9.62 GABRA5 GABRB3
18 transmission of nerve impulse GO:0019226 9.62 CACNA1A CACNG3
19 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.61 CACNA1G CACNA1H
20 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 CACNA1G SCN1B
21 membrane depolarization during action potential GO:0086010 9.6 CACNA1G CACNA1H
22 inhibitory postsynaptic potential GO:0060080 9.58 CHRNA4 GABRB3
23 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.58 CACNA1G SCN1B
24 inner ear receptor cell development GO:0060119 9.57 GABRA5 GABRB3
25 gamma-aminobutyric acid signaling pathway GO:0007214 9.5 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
26 ion transport GO:0006811 9.47 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4 CLCN2
27 chemical synaptic transmission GO:0007268 10.02 CACNA1A CACNA1G CHRNA4 GABRA1 GABRA5 GABRA6

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 9.8 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 9.51 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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