MCID: CHL002
MIFTS: 55

Childhood Absence Epilepsy malady

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Childhood Absence Epilepsy

Aliases & Descriptions for Childhood Absence Epilepsy:

Name: Childhood Absence Epilepsy 12 56 52 14
Absence Seizure 12 29
Pyknolepsy 12 56
Petit Mal Seizure 12
Epilepsy, Absence 42
Absence Seizures 52
Absence Epilepsy 69

Characteristics:

Orphanet epidemiological data:

56
childhood absence epilepsy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1825
ICD10 33 G40.A
MeSH 42 D004832
NCIt 47 C3023 C50436
Orphanet 56 ORPHA64280
ICD10 via Orphanet 34 G40.3
UMLS 69 C0014553

Summaries for Childhood Absence Epilepsy

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.

MalaCards based summary : Childhood Absence Epilepsy, also known as absence seizure, is related to epilepsy, generalized, with febrile seizures plus, type 5 and juvenile absence epilepsy, and has symptoms including 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 Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Gabapentin and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and amygdala, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 71 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 2 Epilepsy, Childhood Absence 5
Epilepsy, Childhood Absence 6

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 epilepsy, generalized, with febrile seizures plus, type 5 30.9 CHRNA4 CLCN2 GABBR1 GABRA1 GABRA6 GABRB3
2 juvenile absence epilepsy 11.0
3 megaloblastic anemia due to dihydrofolate reductase deficiency 10.9
4 epilepsy, juvenile myoclonic 5 10.9
5 epilepsy, childhood absence 6 10.9
6 glut1 deficiency syndrome 2 10.9
7 epilepsy, generalized, with febrile seizures plus, type 3 10.8
8 epilepsy 10.7
9 familial hemiplegic migraine 10.2 CACNA1H CLCN2 GABRA1
10 autosomal recessive nonsyndromic deafness 10.2 GABRA1 GABRB3 GABRG2 SLC2A1
11 aceruloplasminemia 10.2 CLCN2 GABRA1 GABRB3 GABRG2
12 roifman-chitayat syndrome 10.1 GABRA5 GABRB3 NIPA2
13 spastic paraplegia 6, autosomal dominant 10.1 GABRA5 GABRB3 GABRG2 NIPA2
14 spondylosis 10.1 CHRNA4 GABRA5 GABRG2 SLC2A1
15 3-methylcrotonyl-coa carboxylase deficiency 10.0 CACNA1H CLCN2 GABRA1 GABRB3 GABRG2 SLC2A1
16 epileptic encephalopathy, early infantile, 11 10.0 CHRNA4 GABRG2 SCN1B
17 deafness, autosomal recessive 65 10.0 CHRNA4 GABRG2 SCN1B
18 gamma-amino butyric acid metabolism disorder 9.9 GABRA1 GABRG2 SCN1B
19 brachydactyly, type e 9.9 CACNA1A GABRA1 GABRG2 SCN1B
20 hydromyelia 9.9 CHRNA4 GABRG2 SCN1B
21 febrile seizures 9.9
22 idiopathic generalized epilepsy 9.8
23 benign epilepsy with centrotemporal spikes 9.8
24 neuronitis 9.8
25 bone cancer 9.8 CACNA1H CHRNA4 CLCN2 GABRA1 GABRB3 GABRG2
26 west syndrome 9.6
27 focal epilepsy 9.6
28 myoclonus epilepsy 9.6
29 myoclonus 9.6
30 mononeuritis multiplex 9.6 CACNA1H CHRNA4 CLCN2 GABBR1 GABRA1 GABRB3
31 urethral stricture 8.5 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3

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

MGI Mouse Phenotypes related to Childhood Absence Epilepsy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
2 growth/size/body region MP:0005378 10.1 CACNA1A CACNA1G CACNA1H CACNA2D2 CACNG3 GABBR1
3 nervous system MP:0003631 10.09 GABRA6 GABRB3 GABRG2 KCNK9 LGI4 SCN1B
4 homeostasis/metabolism MP:0005376 10.03 CACNA1A CACNA1G CACNA2D2 CACNG3 CHRNA4 CLCN2
5 no phenotypic analysis MP:0003012 9.61 CACNA1A CACNA1G CHRNA4 GABRA1 GABRA5 GABRB3
6 normal MP:0002873 9.28 CACNA1A CACNA2D2 CACNG3 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 80)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
2
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
3 Antioxidants Phase 4
4 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
5 Protective Agents Phase 4,Phase 3,Phase 2
6 Analgesics Phase 4
7 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
8 Antimanic Agents Phase 4,Phase 3,Phase 1
9 calcium channel blockers Phase 4,Phase 3,Phase 2,Phase 1
10 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
11 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 1
12 Excitatory Amino Acids Phase 4,Phase 3,Phase 1
13 GABA Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
16 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
17 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Anti-Anxiety Agents Phase 4,Phase 2,Phase 3
19 Antiparkinson Agents Phase 4
20
gamma-Aminobutyric Acid Phase 4 56-12-2 119
21
Lamotrigine Approved, Investigational Phase 3,Phase 1 84057-84-1 3878
22
Valproic Acid Approved, Investigational Phase 3,Phase 1 99-66-1 3121
23
Ethosuximide Approved Phase 3 77-67-8 3291
24 Piracetam Approved Phase 3,Phase 2 7491-74-9
25
Diazepam Approved, Illicit, Vet_approved Phase 2, Phase 3 439-14-5 3016
26
Lorazepam Approved Phase 2, Phase 3 846-49-1 3958
27
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
28
Clonazepam Approved, Illicit Phase 3 1622-61-3 2802
29
Fosphenytoin Approved Phase 3 93390-81-9 56339
30
Phenytoin Approved, Vet_approved Phase 3 57-41-0 1775
31
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
32
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
33
Vigabatrin Approved Phase 3 68506-86-5, 60643-86-9 5665
34 Diuretics, Potassium Sparing Phase 3,Phase 1
35 Sodium Channel Blockers Phase 3,Phase 1
36 Etiracetam Phase 3,Phase 2
37 Neuroprotective Agents Phase 3,Phase 2
38 Nootropic Agents Phase 3,Phase 2
39 Adjuvants, Anesthesia Phase 2, Phase 3
40 Anesthetics Phase 2, Phase 3
41 Anesthetics, General Phase 2, Phase 3
42 Anesthetics, Intravenous Phase 2, Phase 3
43 Antiemetics Phase 2, Phase 3
44 Autonomic Agents Phase 2, Phase 3
45 GABA Modulators Phase 2, Phase 3
46 Gastrointestinal Agents Phase 2, Phase 3
47 Hypnotics and Sedatives Phase 2, Phase 3
48 Neuromuscular Agents Phase 2, Phase 3
49 Pharmaceutical Solutions Phase 3,Phase 2
50 Anti-Inflammatory Agents Phase 3

Interventional clinical trials:

(show all 47)
id Name Status NCT ID Phase
1 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4
2 Drug Use Investigation Of Gabapentin Completed NCT00567268 Phase 4
3 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3
4 Clinical Study of Lamotrigine to Treat Newly Diagnosed Typical Absence Seizure in Children and Adolescents Completed NCT01431976 Phase 3
5 Long Term Follow up Treatment With Levetiracetam in Subjects of 4 Years and Older With Generalized Epilepsy Completed NCT00150748 Phase 3
6 Efficacy and Safety Study Comparing Lorazepam and Diazepam for Children in the Emergency Department With Seizures (Status 2) Completed NCT00621478 Phase 2, Phase 3
7 Comparison Between Lorazepam, Clonazepam and Clonazepam + Fosphenytoin for the Treatment of Out-of-hospital Generalized Status Epilepticus Recruiting NCT01870024 Phase 3
8 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3
9 Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms Not yet recruiting NCT02299115 Phase 3
10 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3
11 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2
12 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2
13 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
14 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2
15 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
16 A Study to Determine if Levetiracetam Will Assist Those Suffering From Chronic Idiopathic Axonal Polyneuropathy. Completed NCT00156689 Phase 2
17 A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms Completed NCT00441896 Phase 2
18 A Study to Investigate the Safety and Efficacy of Lacosamide Added to the Patients Current Therapy in Patients Aged 1 Month to Less Than 18 Years Old With Epilepsy Syndromes Associated With Generalized Seizures. Recruiting NCT01969851 Phase 2
19 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2
20 Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms Active, not recruiting NCT02551731 Phase 2
21 Open-label Extension to Protocol 1042-0500 Terminated NCT00442104 Phase 2
22 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1
23 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1
24 Oral Contraceptive Interaction Study for GW273225 Terminated NCT00483535 Phase 1
25 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589
26 Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy Unknown status NCT01046760
27 Developmental Delay in Children Exposed During Pregnancy to Either Lamotrigine,Sodium Valproate, or Carbamazepine Unknown status NCT01097720
28 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
29 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010
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 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy Completed NCT01178437
34 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
35 Blinking and Yawning in Epilepsy: The Role of Dopamine Completed NCT01432821
36 Longitudinal Early Epilepsy Study Recruiting NCT02954107
37 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures Recruiting NCT02819427
38 Low-intensity Focused Ultrasound Pulsation (LIFUP) for Treatment of Temporal Lobe Epilepsy Recruiting NCT02151175
39 Diffusion Tensor Imaging in Epilepsy With Continuous Spikes and Waves During Sleep Recruiting NCT03035513
40 Investigation of the Clinical Safety and Efficacy of Long-term Treatment With Fycompa Tablets in Adult Epilepsy Patients With Partial-onset Seizures (With or Without Secondary Generalized Seizures) or Primary Generalized Tonic-clonic Seizures Recruiting NCT03059329
41 Investigation of the Clinical Safety and Efficacy of Long-term Treatment With Fycompa Tablets in Adolescence Epilepsy Patients With Partial-onset Seizures (With or Without Secondary Generalized Seizures) or Primary Generalized Tonic-clonic Seizures Recruiting NCT03059381
42 Cardiac Arrhythmias in Dravet Syndrome Recruiting NCT02415686
43 Longitudinal Monitoring of Cerebral Connectivity 3T MRI in Patients With a Transcient Global Amnesia Recruiting NCT02796287
44 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
45 Repetitive Transcranial Magnetic Stimulation (rTMS) for the Treatment of Epilepsy Enrolling by invitation NCT02560597
46 Does Body Positioning Affect the Yield of Hyperventilation in Routine Pediatric Electroencephalography - EEG Studies? Not yet recruiting NCT02766595
47 SudoScan as a Biomarker of Parkinson's Disease Not yet recruiting NCT02767037

Search NIH Clinical Center for Childhood Absence Epilepsy

Cochrane evidence based reviews: epilepsy, absence

Genetic Tests for Childhood Absence Epilepsy

Genetic tests related to Childhood Absence Epilepsy:

id Genetic test Affiliating Genes
1 Absence Seizures 29

Anatomical Context for Childhood Absence Epilepsy

MalaCards organs/tissues related to Childhood Absence Epilepsy:

39
Brain, Testes, Amygdala

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 169)
id Title Authors Year
1
Second monotherapy in childhood absence epilepsy. ( 27986874 )
2017
2
Neurocognitive Profiles in Childhood Absence Epilepsy: A Focus on Cognitive Dysfunction Associated With the Frontal Lobe. ( 27664195 )
2016
3
Grey matter anomalies in drug-naA^ve childhood absence epilepsy: A voxel-based morphometry study with MRI at 3.0T. ( 27259070 )
2016
4
Comment on Leal et al. Dynamics of epileptic activity in a peculiar case of childhood absence epilepsy and correlation with thalamic levels of GABA. Epilepsy Behav Case Rep 2016;5:57-65. ( 27424572 )
2016
5
Evolving Tale of Childhood Absence Epilepsy: Finally Better News? ( 27330436 )
2016
6
Feasibility of a Mobile Cognitive Intervention in Childhood Absence Epilepsy. ( 27895568 )
2016
7
Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy. ( 26610892 )
2016
8
Structural Abnormalities in Childhood Absence Epilepsy: Voxel-Based Analysis Using Diffusion Tensor Imaging. ( 27733824 )
2016
9
Dynamics of epileptic activity in a peculiar case of childhood absence epilepsy and correlation with thalamic levels of GABA. ( 27144122 )
2016
10
Evaluation of Executive Functions in Patients With Childhood Absence Epilepsy. ( 26738921 )
2016
11
Neuropsychological impairment in childhood absence epilepsy: Review of the literature. ( 26671087 )
2015
12
Long-term outcomes of generalized tonic-clonic seizures in a childhood absence epilepsy trial. ( 26311751 )
2015
13
Temporal current-source of spikes suggests initial treatment failure in childhood absence epilepsy. ( 26362383 )
2015
14
Altered EEG resting-state effective connectivity in drug-naA^ve childhood absence epilepsy. ( 26437574 )
2015
15
Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy. ( 26244497 )
2015
16
Abnormal cortical thickness connectivity persists in childhood absence epilepsy. ( 26000319 )
2015
17
Journal club: pretreatment EEG in childhood absence epilepsy. ( 24799520 )
2014
18
Diffusion tensor tractography reveals disrupted structural connectivity in childhood absence epilepsy. ( 24246142 )
2014
19
Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. ( 25209080 )
2014
20
Ezogabine treatment of childhood absence epilepsy. ( 24659629 )
2014
21
Paying attention to school achievement in childhood absence epilepsy. ( 24872780 )
2014
22
NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population. ( 24500577 )
2014
23
Childhood absence epilepsy: what is all the distraction about? ( 24872781 )
2014
24
Using ictal high-frequency oscillations (80-500Hz) to localize seizure onset zones in childhood absence epilepsy: a MEG study. ( 24582907 )
2014
25
Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes. ( 25157201 )
2014
26
Long-term seizure remission in childhood absence epilepsy: might initial treatment matter? ( 24512528 )
2014
27
Altered intrinsic functional connectivity of the salience network in childhood absence epilepsy. ( 24642509 )
2014
28
Current advances in childhood absence epilepsy. ( 24530152 )
2014
29
Viscum Album in the Treatment of a Girl With Refractory Childhood Absence Epilepsy. ( 25038133 )
2014
30
Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy. ( 25347071 )
2014
31
Altered spontaneous activity in treatment-naive childhood absence epilepsy revealed by Regional Homogeneity. ( 24746024 )
2014
32
Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. ( 24089388 )
2013
33
Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome. ( 23719147 )
2013
34
Childhood absence epilepsy successfully treated with the paleolithic ketogenic diet. ( 26000218 )
2013
35
Intellectual functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes. ( 23992789 )
2013
36
Spatiotemporal profiles of focal and generalised spikes in childhood absence epilepsy. ( 23702456 )
2013
37
Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. ( 23167925 )
2013
38
The role of SLC2A1 in early onset and childhood absence epilepsies. ( 23306390 )
2013
39
Absence in childhood absence epilepsy: the horse is out of the barn. ( 24089389 )
2013
40
Attention impairment in childhood absence epilepsy: an impulsivity problem? ( 23537619 )
2013
41
Childhood absence epilepsy: poor attention is more than seizures. ( 24166970 )
2013
42
Assessment of control in typical childhood absence epilepsy. ( 23529908 )
2013
43
Altered resting-state connectivity during interictal generalized spike-wave discharges in drug-naA^ve childhood absence epilepsy. ( 22431250 )
2013
44
Focal and generalized EEG paroxysms in childhood absence epilepsy: topographic associations and distinctive behaviors during the first cycle of non-REM sleep. ( 22360352 )
2012
45
Cortical and thalamic resting-state functional connectivity is altered in childhood absence epilepsy. ( 22281064 )
2012
46
New analysis workflow for MALDI imaging mass spectrometry: application to the discovery and identification of potential markers of childhood absence epilepsy. ( 22994238 )
2012
47
Early-onset versus typical childhood absence epilepsy: are they all the same thing? ( 22459314 )
2012
48
Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes. ( 22000044 )
2012
49
Early-onset versus typical childhood absence epilepsy; clinical and electrographic characteristics. ( 22365586 )
2012
50
Automatic detection of childhood absence epilepsy seizures: toward a monitoring device. ( 22520349 )
2012

Variations for Childhood Absence Epilepsy

ClinVar genetic disease variations for Childhood Absence Epilepsy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ASF1A; CEP85L; DCBLD1; FAM184A; GOPC; MCM9; NUS1; PLN; SLC35F1 NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 117810940: 119417749

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 GeneCards Suite gene sharing:

(show all 33)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
2
Show member pathways
13.35 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
3
Show member pathways
13.28 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
4
Show member pathways
12.88 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
5
Show member pathways
12.87 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
6
Show member pathways
12.85 CACNA1A CACNA2D2 CACNG3 CHRNA4 GABBR1 GABRA1
7
Show member pathways
12.83 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
8
Show member pathways
12.83 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
9
Show member pathways
12.82 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
10
Show member pathways
12.71 CACNA1A CACNA1G CACNA1H CACNA1I CHRNA4
11 12.68 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
12
Show member pathways
12.54 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
13
Show member pathways
12.52 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
14
Show member pathways
12.47 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
15
Show member pathways
12.41 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
16
Show member pathways
12.39 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
17
Show member pathways
12.38 CACNA1G CACNA1H CACNA1I KCNK9 SLC2A1
18
Show member pathways
12.3 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
19
Show member pathways
12.21 CACNA1A CACNA1G CACNA1H CACNA1I
20 12.09 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
21
Show member pathways
12.04 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
22
Show member pathways
12.01 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6
23
Show member pathways
11.96 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
24 11.73 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
25
Show member pathways
11.69 CACNA2D2 CACNG3 SCN1B
26 11.57 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2
27 11.56 CACNA1G CACNA1H SCN1B
28 11.34 CACNA1G CACNA1H CACNA1I
29
Show member pathways
11.34 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
30
Show member pathways
10.91 GABRA1 GABRG2
31 10.83 CACNG3 LGI4
32 10.77 CACNA1A CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3
33 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 11)
id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.95 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
2 dendrite GO:0030425 9.88 CACNA1A CHRNA4 GABBR1 GABRA5 GABRG2
3 postsynaptic membrane GO:0045211 9.87 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
4 chloride channel complex GO:0034707 9.63 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
5 GABA-A receptor complex GO:1902711 9.35 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
6 voltage-gated calcium channel complex GO:0005891 9.1 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
7 membrane GO:0016020 10.39 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
8 integral component of membrane GO:0016021 10.32 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
9 plasma membrane GO:0005886 10.21 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
10 integral component of plasma membrane GO:0005887 10.04 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
11 cell junction GO:0030054 10 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.99 CACNA1A CACNA1G CHRNA4 GABRA5 GABRG2 SCN1B
2 ion transmembrane transport GO:0034220 9.97 CACNA1G CACNA1H CHRNA4 CLCN2 GABRA1 GABRA5
3 calcium ion transmembrane transport GO:0070588 9.95 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
4 calcium ion transport GO:0006816 9.95 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
5 chloride transmembrane transport GO:1902476 9.93 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
6 chloride transport GO:0006821 9.91 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
7 regulation of ion transmembrane transport GO:0034765 9.91 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
8 sodium ion transmembrane transport GO:0035725 9.87 CACNA1G CACNA1H CACNA1I SCN1B
9 regulation of membrane potential GO:0042391 9.86 CACNA1A CACNA1G CACNA1H CHRNA4
10 regulation of postsynaptic membrane potential GO:0060078 9.85 CACNA1G CACNA1H CACNA1I CHRNA4 GABRA1 SCN1B
11 negative regulation of neuron apoptotic process GO:0043524 9.83 CACNA1A GABRA5 GABRB3
12 regulation of insulin secretion GO:0050796 9.81 CACNA1A CACNA2D2 SLC2A1
13 membrane depolarization during action potential GO:0086010 9.8 CACNA1A CACNA1G CACNA1H CACNA1I
14 cardiac conduction GO:0061337 9.78 CACNA2D2 CACNG3 SCN1B
15 neuronal action potential GO:0019228 9.76 CACNA1G CACNA1H CACNA1I
16 membrane depolarization GO:0051899 9.75 CACNA1A CHRNA4 SCN1B
17 calcium ion import GO:0070509 9.72 CACNA1G CACNA1H CACNA1I
18 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.71 CACNA1G CACNA1H CACNA1I
19 cellular response to histamine GO:0071420 9.7 GABRA1 GABRB3 GABRG2
20 regulation of neuron apoptotic process GO:0043523 9.65 GABRA5 GABRB3
21 innervation GO:0060384 9.65 GABRA5 GABRB3
22 transmission of nerve impulse GO:0019226 9.65 CACNA1A CACNG3
23 cardiac muscle cell action potential involved in contraction GO:0086002 9.64 CACNA1G SCN1B
24 neurological system process GO:0050877 9.64 CACNA1A CHRNA4
25 inner ear receptor cell development GO:0060119 9.63 GABRA5 GABRB3
26 inhibitory postsynaptic potential GO:0060080 9.62 CHRNA4 GABRB3
27 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.62 CACNA1G SCN1B
28 synaptic transmission, GABAergic GO:0051932 9.61 GABRA1 GABRG2
29 rhythmic synaptic transmission GO:0060024 9.59 CACNA1A CACNA2D2
30 ion transport GO:0006811 9.53 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
31 gamma-aminobutyric acid signaling pathway GO:0007214 9.5 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
32 transport GO:0006810 10.09 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
33 transmembrane transport GO:0055085 10.08 CACNA1A CACNA1G CACNA1H CACNA1I CLCN2 SLC2A1

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.88 CACNA1A CACNA1G CACNA1H CACNA1I CLCN2 SCN1B
2 calcium channel activity GO:0005262 9.85 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
3 chloride channel activity GO:0005254 9.8 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
4 voltage-gated sodium channel activity GO:0005248 9.76 CACNA1G CACNA1H CACNA1I SCN1B
5 ion channel activity GO:0005216 9.7 CACNA1A CACNA1G CHRNA4 GABRA1 GABRA5 GABRA6
6 GABA-A receptor activity GO:0004890 9.65 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
7 low voltage-gated calcium channel activity GO:0008332 9.61 CACNA1G CACNA1H CACNA1I
8 benzodiazepine receptor activity GO:0008503 9.49 GABRA6 GABRG2
9 GABA-gated chloride ion channel activity GO:0022851 9.48 GABRA1 GABRB3
10 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
11 voltage-gated calcium channel activity GO:0005245 9.1 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3

Sources for Childhood Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....