MCID: CHL002
MIFTS: 54

Childhood Absence Epilepsy

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Childhood Absence Epilepsy

MalaCards integrated aliases for Childhood Absence Epilepsy:

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

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 seizures, 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 Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and testes, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 72 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 34)
id Related Disease Score Top Affiliating Genes
1 epilepsy, generalized, with febrile seizures plus, type 5 30.4 CHRNA4 CLCN2 GABBR1 GABRA1 GABRA6 GABRB3
2 juvenile absence epilepsy 11.5
3 glut1 deficiency syndrome 2, childhood onset 10.9
4 megaloblastic anemia due to dihydrofolate reductase deficiency 10.9
5 epilepsy, juvenile myoclonic 5 10.9
6 epilepsy, childhood absence 6 10.9
7 epilepsy 10.8
8 epilepsy, generalized, with febrile seizures plus, type 3 10.8
9 gamma-amino butyric acid metabolism disorder 10.6 CACNA1H CLCN2 GABRA1
10 autosomal dominant nonsyndromic deafness 10.5 GABRA1 GABRB3 SLC2A1
11 3-methylcrotonyl-coa carboxylase deficiency 10.4 CLCN2 GABRA1 GABRB3 GABRG2
12 roifman-chitayat syndrome 10.3 GABRA5 GABRB3 GABRG2 NIPA2
13 cone-rod dystrophy 5 10.3 CACNA1A SLC2A1
14 adolescence-adult electroclinical syndrome 10.2 GABRG2 SCN1B
15 spondylosis 10.2 CHRNA4 GABRA5 GABRG2 SLC2A1
16 angelman syndrome 10.2 GABRA5 GABRB3 NIPA2
17 early onset absence epilepsy 10.2 CACNA1H GABRA1 GABRA5 GABRB3 GABRG2 SLC2A1
18 erythermalgia, primary 10.2 GABRA1 GABRB3 GABRG2 SCN1B
19 gaba aminotransferase deficiency 10.1 GABRA1 GABRG2 SCN1B
20 deafness, autosomal recessive 65 10.1 CHRNA4 GABRG2 SCN1B
21 headache 10.0 CHRNA4 GABRG2 SCN1B
22 gingival overgrowth 10.0 CHRNA4 GABRG2 SCN1B
23 fatal infantile encephalocardiomyopathy 9.9 SCN1B SLC2A1
24 benign epilepsy with centrotemporal spikes 9.9
25 febrile seizures 9.9
26 idiopathic generalized epilepsy 9.8
27 neuronitis 9.8
28 focal epilepsy 9.6
29 myoclonus epilepsy 9.6
30 myoclonus 9.6
31 west syndrome 9.6
32 mononeuritis multiplex 9.1 CACNA1H CHRNA4 CLCN2 GABBR1 GABRA1 GABRB3
33 bone cancer 8.9 CACNA1A CACNA1H CHRNA4 CLCN2 GABBR1 GABRA1
34 urethral stricture 6.5 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 GABRG2 LGI4 SCN1B SLC2A1 CACNA1A CACNA1G
2 growth/size/body region MP:0005378 10.1 CACNG3 GABBR1 GABRA1 GABRB3 GABRG2 LGI4
3 nervous system MP:0003631 10.09 CACNA1A CACNA1G CACNA1H CACNA2D2 CACNG3 CHRNA4
4 homeostasis/metabolism MP:0005376 10.03 CACNA1A CACNA1G CACNA2D2 CACNG3 CHRNA4 CLCN2
5 no phenotypic analysis MP:0003012 9.61 SCN1B SLC2A1 CACNA1A CACNA1G CHRNA4 GABRA1
6 normal MP:0002873 9.28 CACNA2D2 CACNG3 GABRA1 GABRA6 GABRB3 GABRG2

Drugs & Therapeutics for Childhood Absence Epilepsy

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

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethosuximide Approved Phase 3 77-67-8 3291
2
Lamotrigine Approved, Investigational Phase 3,Phase 1 84057-84-1 3878
3
Valproic Acid Approved, Investigational Phase 3,Phase 1 99-66-1 3121
4
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
5 Anticonvulsants Phase 3,Phase 2,Phase 1
6 Antimanic Agents Phase 3,Phase 1
7 calcium channel blockers Phase 3,Phase 2,Phase 1
8 Calcium, Dietary Phase 3,Phase 2,Phase 1
9 Central Nervous System Depressants Phase 3,Phase 1
10 Diuretics, Potassium Sparing Phase 3,Phase 1
11 Excitatory Amino Acid Antagonists Phase 3,Phase 1
12 Excitatory Amino Acids Phase 3,Phase 1
13 GABA Agents Phase 3,Phase 1
14 Neurotransmitter Agents Phase 3,Phase 1
15 Psychotropic Drugs Phase 3,Phase 1
16 Sodium Channel Blockers Phase 3,Phase 1
17 Tranquilizing Agents Phase 3,Phase 1
18 Pharmaceutical Solutions Phase 3,Phase 2
19
Topiramate Approved Phase 2 97240-79-4 5284627
20 Piracetam Approved Phase 2 7491-74-9
21
Verapamil Approved Phase 2 52-53-9 2520
22
Glycerol Approved, Investigational Phase 2 56-81-5 753
23 Etiracetam Investigational Phase 2 33996-58-6
24 Anti-Obesity Agents Phase 2
25 Neuroprotective Agents Phase 2
26 Protective Agents Phase 2
27 Nootropic Agents Phase 2
28 Anti-Arrhythmia Agents Phase 2
29 Vasodilator Agents Phase 2
30
Menthol Approved 2216-51-5 16666
31 Convulsants

Interventional clinical trials:

(show all 22)

id Name Status NCT ID Phase Drugs
1 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 ethosuximide;lamotrigine;valproic acid
2 Clinical Study of Lamotrigine to Treat Newly Diagnosed Typical Absence Seizure in Children and Adolescents Completed NCT01431976 Phase 3 Lamictal
3 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
4 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
5 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
6 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2 Levetiracetam
7 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
8 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
9 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
10 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2 UX007 (triheptanoin);Placebo Oil
11 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
12 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1 Valproic Acid
13 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589
14 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
15 Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study Completed NCT00041951
16 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
17 Magnetoencephalography in Absence Seizures Completed NCT00884351
18 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905
19 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy Completed NCT01178437
20 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures Recruiting NCT02819427
21 Longitudinal Early Epilepsy Study Recruiting NCT02954107
22 Does Body Positioning Affect the Yield of Hyperventilation in Routine Pediatric Electroencephalography - EEG Studies? Not yet recruiting NCT02766595

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, Breast, Testes, Amygdala

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 180)
id Title Authors Year
1
Pretreatment behavior and subsequent medication effects in childhood absence epilepsy. ( 28916534 )
2017
2
Pretreatment seizure semiology in childhood absence epilepsy. ( 28724582 )
2017
3
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. ( 28165634 )
2017
4
Altered Effective Connectivity Network in Childhood Absence Epilepsy: A Multi-frequency MEG Study. ( 28286918 )
2017
5
Disrupted topological organization of structural brain networks in childhood absence epilepsy. ( 28931825 )
2017
6
Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series. ( 28238620 )
2017
7
Spatiotemporal propagation patterns of generalized ictal spikes in childhood absence epilepsy. ( 28709121 )
2017
8
Second monotherapy in childhood absence epilepsy. ( 27986874 )
2017
9
Comparative analysis of background EEG activity in childhood absence epilepsy during valproate treatment: a standardized, low-resolution, brain electromagnetic tomography (sLORETA) study. ( 28466144 )
2017
10
Childhood absence epilepsy and benign epilepsy with centro-temporal spikes: a narrative review analysis. ( 28101769 )
2017
11
Long-term prognosis of childhood absence epilepsy. ( 28325560 )
2017
12
Altered degree centrality in childhood absence epilepsy: A resting-state fMRI study. ( 28131205 )
2017
13
Structural Abnormalities in Childhood Absence Epilepsy: Voxel-Based Analysis Using Diffusion Tensor Imaging. ( 27733824 )
2016
14
Neurocognitive Profiles in Childhood Absence Epilepsy: A Focus on Cognitive Dysfunction Associated With the Frontal Lobe. ( 27664195 )
2016
15
Evaluation of Executive Functions in Patients With Childhood Absence Epilepsy. ( 26738921 )
2016
16
Evolving Tale of Childhood Absence Epilepsy: Finally Better News? ( 27330436 )
2016
17
Grey matter anomalies in drug-naA^ve childhood absence epilepsy: A voxel-based morphometry study with MRI at 3.0T. ( 27259070 )
2016
18
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
19
Feasibility of a Mobile Cognitive Intervention in Childhood Absence Epilepsy. ( 27895568 )
2016
20
Dynamics of epileptic activity in a peculiar case of childhood absence epilepsy and correlation with thalamic levels of GABA. ( 27144122 )
2016
21
Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy. ( 26610892 )
2016
22
Neuropsychological impairment in childhood absence epilepsy: Review of the literature. ( 26671087 )
2015
23
Altered EEG resting-state effective connectivity in drug-naA^ve childhood absence epilepsy. ( 26437574 )
2015
24
Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy. ( 26244497 )
2015
25
Abnormal cortical thickness connectivity persists in childhood absence epilepsy. ( 26000319 )
2015
26
Long-term outcomes of generalized tonic-clonic seizures in a childhood absence epilepsy trial. ( 26311751 )
2015
27
Temporal current-source of spikes suggests initial treatment failure in childhood absence epilepsy. ( 26362383 )
2015
28
Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy. ( 25347071 )
2014
29
Ezogabine treatment of childhood absence epilepsy. ( 24659629 )
2014
30
Current advances in childhood absence epilepsy. ( 24530152 )
2014
31
Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. ( 25209080 )
2014
32
Journal club: pretreatment EEG in childhood absence epilepsy. ( 24799520 )
2014
33
Childhood absence epilepsy: what is all the distraction about? ( 24872781 )
2014
34
Paying attention to school achievement in childhood absence epilepsy. ( 24872780 )
2014
35
Long-term seizure remission in childhood absence epilepsy: might initial treatment matter? ( 24512528 )
2014
36
NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population. ( 24500577 )
2014
37
Using ictal high-frequency oscillations (80-500Hz) to localize seizure onset zones in childhood absence epilepsy: a MEG study. ( 24582907 )
2014
38
Altered intrinsic functional connectivity of the salience network in childhood absence epilepsy. ( 24642509 )
2014
39
Diffusion tensor tractography reveals disrupted structural connectivity in childhood absence epilepsy. ( 24246142 )
2014
40
Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes. ( 25157201 )
2014
41
Altered spontaneous activity in treatment-naive childhood absence epilepsy revealed by Regional Homogeneity. ( 24746024 )
2014
42
Viscum Album in the Treatment of a Girl With Refractory Childhood Absence Epilepsy. ( 25038133 )
2014
43
Assessment of control in typical childhood absence epilepsy. ( 23529908 )
2013
44
Pretreatment cognitive deficits and treatment effects on attention in childhood absence epilepsy. ( 24089388 )
2013
45
Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome. ( 23719147 )
2013
46
Childhood absence epilepsy successfully treated with the paleolithic ketogenic diet. ( 26000218 )
2013
47
Spatiotemporal profiles of focal and generalised spikes in childhood absence epilepsy. ( 23702456 )
2013
48
Absence in childhood absence epilepsy: the horse is out of the barn. ( 24089389 )
2013
49
Attention impairment in childhood absence epilepsy: an impulsivity problem? ( 23537619 )
2013
50
Childhood absence epilepsy: poor attention is more than seizures. ( 24166970 )
2013

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 32)
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
13.27 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
4
Show member pathways
12.88 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
5
Show member pathways
12.86 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
12.82 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 12.67 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
12
Show member pathways
12.54 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
13
Show member pathways
12.51 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
14
Show member pathways
12.4 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
15
Show member pathways
12.39 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
16
Show member pathways
12.37 CACNA1G CACNA1H CACNA1I KCNK9 SLC2A1
17
Show member pathways
12.3 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
18
Show member pathways
12.2 CACNA1A CACNA1G CACNA1H CACNA1I
19 12.09 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
20
Show member pathways
12.01 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6
21
Show member pathways
12.01 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
22
Show member pathways
11.96 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
23 11.71 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
24
Show member pathways
11.69 CACNA2D2 CACNG3 SCN1B
25 11.59 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2
26 11.55 CACNA1G CACNA1H SCN1B
27 11.34 CACNA1G CACNA1H CACNA1I
28
Show member pathways
11.34 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
29
Show member pathways
10.91 GABRA1 GABRG2
30 10.83 CACNG3 LGI4
31 10.77 CACNA1A CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3
32 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 9.89 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 10.02 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 35)
id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.99 CACNA1A CACNA1G CHRNA4 GABRA5 GABRG2 SCN1B
2 calcium ion transmembrane transport GO:0070588 9.95 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
3 calcium ion transport GO:0006816 9.95 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
4 chloride transmembrane transport GO:1902476 9.93 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
5 regulation of ion transmembrane transport GO:0034765 9.92 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
6 chloride transport GO:0006821 9.91 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
7 ion transmembrane transport GO:0034220 9.91 CACNA1G CACNA1H CHRNA4 CLCN2 GABRA1 GABRA5
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 9.84 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 neuromuscular synaptic transmission GO:0007274 9.67 CACNA1A CHRNA4
21 regulation of neuron apoptotic process GO:0043523 9.66 GABRA5 GABRB3
22 innervation GO:0060384 9.65 GABRA5 GABRB3
23 transmission of nerve impulse GO:0019226 9.65 CACNA1A CACNG3
24 cardiac muscle cell action potential involved in contraction GO:0086002 9.64 CACNA1G SCN1B
25 neurological system process GO:0050877 9.64 CACNA1A CHRNA4
26 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.63 CACNA1G SCN1B
27 inner ear receptor cell development GO:0060119 9.62 GABRA5 GABRB3
28 inhibitory postsynaptic potential GO:0060080 9.62 CHRNA4 GABRB3
29 synaptic transmission, GABAergic GO:0051932 9.61 GABRA1 GABRG2
30 rhythmic synaptic transmission GO:0060024 9.59 CACNA1A CACNA2D2
31 ion transport GO:0006811 9.53 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
32 gamma-aminobutyric acid signaling pathway GO:0007214 9.5 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
33 signal transduction GO:0007165 10.2 CACNA1I CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6
34 transport GO:0006810 10.09 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
35 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 GABA-A receptor activity GO:0004890 9.65 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
6 extracellular ligand-gated ion channel activity GO:0005230 9.63 CHRNA4 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 voltage-gated calcium channel activity GO:0005245 9.43 CACNA1A CACNA1G CACNA1H CACNA1I CACNA2D2 CACNG3
11 ion channel activity GO:0005216 9.17 CACNA1A CACNA1G CHRNA4 GABRA1 GABRA5 GABRA6

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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