MCID: CHL002
MIFTS: 56

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 59 55 6 15
Absence Seizures 29 55 6
Pyknolepsy 12 59
Petit Mal Seizure 12
Epilepsy, Absence 44
Absence Epilepsy 73
Absence Seizure 12

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
ICD10 33 G40.A
MeSH 44 D004832
NCIt 50 C3023 C50436
Orphanet 59 ORPHA64280
ICD10 via Orphanet 34 G40.3
UMLS 73 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 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 Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Ivermectin and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and testes, and related phenotypes are behavior/neurological and nervous system

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 all 34)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 33.5 CACNA1H CLCN2 GABRA1
2 epilepsy, childhood absence 1 32.4 ECA1 GABRB3
3 epilepsy, idiopathic generalized 10 31.5 CHRNA4 CLCN2 GABBR1 GABRA1 GABRA6 GABRB3
4 epilepsy 30.9 CACNA1H CHRNA4 GABRA1 GABRB3 GABRG2 SCN1B
5 epilepsy, idiopathic generalized 30.2 CACNA1A CACNA1H CACNG3 CHRNA4 CLCN2 GABBR1
6 febrile seizures 30.1 CHRNA4 GABRG2 SCN1B
7 benign epilepsy with centrotemporal spikes 30.1 GABRG2 SCN1B SLC2A1
8 focal epilepsy 30.0 CACNA1H CHRNA4 GABRA5 GABRG2 SLC2A1
9 epilepsy, idiopathic generalized 13 11.0
10 epilepsy, childhood absence 6 11.0
11 glut1 deficiency syndrome 2 11.0
12 megaloblastic anemia due to dihydrofolate reductase deficiency 11.0
13 generalized epilepsy with febrile seizures plus, type 3 10.8
14 lennox-gastaut syndrome 10.6 GABRA1 GABRB3 SLC2A1
15 adolescence-adult electroclinical syndrome 10.6 CLCN2 GABRA1 GABRB3 GABRG2
16 angelman syndrome 10.4 GABRA5 GABRB3 GABRG2 NIPA2
17 infancy electroclinical syndrome 10.4 GABRG2 PCDH19 SCN1B
18 seizures, benign familial infantile, 3 10.3 CHRNA4 GABRG2 SCN1B
19 epilepsy, nocturnal frontal lobe, 1 10.3 CHRNA4 GABRG2 SCN1B
20 generalized epilepsy with febrile seizures plus 10.2 GABRA1 GABRG2 SCN1B
21 childhood electroclinical syndrome 10.1 CACNA1H CLCN2 GABRA1 GABRA5 GABRB3 GABRG2
22 epileptic encephalopathy, early infantile, 6 10.1 GABRA1 GABRB3 GABRG2 PCDH19 SCN1B
23 early onset absence epilepsy 10.0 SCN1B SLC2A1
24 epilepsy, idiopathic generalized 7 9.8
25 neuronitis 9.8
26 attention deficit-hyperactivity disorder 9.7
27 aging 9.7
28 anxiety 9.7
29 west syndrome 9.7
30 periventricular nodular heterotopia 9.7
31 dystonia 9.7
32 myoclonus epilepsy 9.7
33 depression 9.7
34 myoclonus 9.7

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 SLC2A1 PCDH19 SCN1B GABRA1 CACNA1H GABRA5
2 nervous system MP:0003631 10.09 SLC2A1 KCNK9 PCDH19 SCN1B CACNA1H GABRA5
3 growth/size/body region MP:0005378 10.06 SLC2A1 GABRG2 SCN1B CACNA1G GABRA1 CACNA1H
4 homeostasis/metabolism MP:0005376 10.03 SLC2A1 GABRG2 KCNK9 CACNA1G GABRA1 CACNG3
5 no phenotypic analysis MP:0003012 9.65 SLC2A1 KCNK9 SCN1B CACNA1G GABRA1 GABRA5
6 normal MP:0002873 9.28 GABRG2 KCNK9 SCN1B GABRA1 CACNG3 GABRA6

Drugs & Therapeutics for Childhood Absence Epilepsy

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
2 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
3 Anti-Infective Agents Phase 4
4 Antiparasitic Agents Phase 4
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
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
9
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
10
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
11 Antimanic Agents Phase 3,Phase 1
12 calcium channel blockers Phase 3,Phase 2,Phase 1
13 Calcium, Dietary Phase 3,Phase 2,Phase 1
14 Central Nervous System Depressants Phase 3,Phase 1
15 Diuretics, Potassium Sparing Phase 3,Phase 1
16 Excitatory Amino Acid Antagonists Phase 3,Phase 1
17 Excitatory Amino Acids Phase 3,Phase 1
18 GABA Agents Phase 3,Phase 1
19 Neurotransmitter Agents Phase 3,Phase 1
20 Psychotropic Drugs Phase 3,Phase 1
21 Sodium Channel Blockers Phase 3,Phase 1
22 Tranquilizing Agents Phase 3,Phase 1
23 Pharmaceutical Solutions Phase 3,Phase 2
24 Adjuvants, Anesthesia Phase 3
25 Anesthetics Phase 3
26 Anesthetics, General Phase 3
27 Anesthetics, Intravenous Phase 3
28 Anti-Anxiety Agents Phase 3
29 GABA Modulators Phase 3
30 Hypnotics and Sedatives Phase 3
31
Topiramate Approved Phase 2 97240-79-4 5284627
32 Piracetam Approved, Investigational Phase 2,Not Applicable 7491-74-9
33
Verapamil Approved Phase 2 52-53-9 2520
34
Glycerol Approved, Investigational Phase 2 56-81-5 753
35 Etiracetam Investigational Phase 2,Not Applicable 33996-58-6
36 Anti-Obesity Agents Phase 2
37 Neuroprotective Agents Phase 2,Not Applicable
38 Protective Agents Phase 2,Not Applicable
39 Nootropic Agents Phase 2,Not Applicable
40 Anti-Arrhythmia Agents Phase 2
41 Vasodilator Agents Phase 2
42
Menthol Approved Not Applicable 2216-51-5 16666
43 Convulsants Not Applicable

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy Recruiting 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 Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304) Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
5 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
6 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
7 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
8 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
9 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
10 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
11 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2 Levetiracetam
12 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
13 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
14 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
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 Lacosamide
16 Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
17 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
18 A Phase 2 Study of CX-8998 in Adolescents and Young Adults With Generalized Epileptic Syndromes With Absence Seizures Recruiting NCT03406702 Phase 2 Placebo Comparator;CX-8998
19 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
20 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1 Valproic Acid
21 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures Unknown status NCT02819427
22 Does Body Positioning Affect the Yield of Hyperventilation in Routine Pediatric Electroencephalography - EEG Studies? Unknown status NCT02766595 Not Applicable
23 Personalizing Health Outcome in Epilepsy Now - An Introduction to Clinical Services Unknown status NCT01533649 Not Applicable
24 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589 Not Applicable
25 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Not Applicable Levetiracetam
26 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
27 Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study Completed NCT00041951
28 Magnetoencephalography in Absence Seizures Completed NCT00884351
29 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905
30 Insula-coil Deep TMS for Treatment Resistant Anorexia Nervosa Completed NCT03144986 Not Applicable
31 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy Completed NCT01178437 Not Applicable
32 Longitudinal Early Epilepsy Study Recruiting NCT02954107
33 Supporting Treatment Adherence Regimens in Pediatric Epilepsy: The STAR Trial Recruiting NCT01851057 Not Applicable
34 Study to Investigate Dosage, Efficacy, and Safety of Fycompa in Routine Clinical Care of Patients With Epilepsy Recruiting NCT03208660 Fycompa

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, Breast, Testes, Amygdala

Publications for Childhood Absence Epilepsy

Articles related to Childhood Absence Epilepsy:

(show top 50) (show all 191)
# 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
Attention Contributes to Arithmetic Deficits in New-Onset Childhood Absence Epilepsy. ( 28959217 )
2017
11
Disrupted topological organization of structural brain networks in childhood absence epilepsy. ( 28931825 )
2017
12
Long-term prognosis of childhood absence epilepsy. ( 28325560 )
2017
13
Altered degree centrality in childhood absence epilepsy: A resting-state fMRI study. ( 28131205 )
2017
14
Pretreatment behavior and subsequent medication effects in childhood absence epilepsy. ( 28916534 )
2017
15
Comparative analysis of background EEG activity in childhood absence epilepsy during valproate treatment: a standardized, low-resolution, brain electromagnetic tomography (sLORETA) study. ( 28466144 )
2017
16
Childhood absence epilepsy and benign epilepsy with centro-temporal spikes: a narrative review analysis. ( 28101769 )
2017
17
Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series. ( 28238620 )
2017
18
Second monotherapy in childhood absence epilepsy. ( 27986874 )
2017
19
Altered Effective Connectivity Network in Childhood Absence Epilepsy: A Multi-frequency MEG Study. ( 28286918 )
2017
20
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. ( 28165634 )
2017
21
Pretreatment seizure semiology in childhood absence epilepsy. ( 28724582 )
2017
22
Spatiotemporal propagation patterns of generalized ictal spikes in childhood absence epilepsy. ( 28709121 )
2017
23
Structural Abnormalities in Childhood Absence Epilepsy: Voxel-Based Analysis Using Diffusion Tensor Imaging. ( 27733824 )
2016
24
Neurocognitive Profiles in Childhood Absence Epilepsy: A Focus on Cognitive Dysfunction Associated With the Frontal Lobe. ( 27664195 )
2016
25
Dynamics of epileptic activity in a peculiar case of childhood absence epilepsy and correlation with thalamic levels of GABA. ( 27144122 )
2016
26
Therapeutic Outcomes and Prognostic Factors in Childhood Absence Epilepsy. ( 26610892 )
2016
27
Grey matter anomalies in drug-naA^ve childhood absence epilepsy: A voxel-based morphometry study with MRI at 3.0T. ( 27259070 )
2016
28
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
29
Evaluation of Executive Functions in Patients With Childhood Absence Epilepsy. ( 26738921 )
2016
30
Feasibility of a Mobile Cognitive Intervention in Childhood Absence Epilepsy. ( 27895568 )
2016
31
Evolving Tale of Childhood Absence Epilepsy: Finally Better News? ( 27330436 )
2016
32
Long-term outcomes of generalized tonic-clonic seizures in a childhood absence epilepsy trial. ( 26311751 )
2015
33
Temporal current-source of spikes suggests initial treatment failure in childhood absence epilepsy. ( 26362383 )
2015
34
Neuropsychological impairment in childhood absence epilepsy: Review of the literature. ( 26671087 )
2015
35
Altered EEG resting-state effective connectivity in drug-naA^ve childhood absence epilepsy. ( 26437574 )
2015
36
Complexity of Multi-Channel Electroencephalogram Signal Analysis in Childhood Absence Epilepsy. ( 26244497 )
2015
37
Abnormal cortical thickness connectivity persists in childhood absence epilepsy. ( 26000319 )
2015
38
Long-term seizure remission in childhood absence epilepsy: might initial treatment matter? ( 24512528 )
2014
39
Childhood absence epilepsy: what is all the distraction about? ( 24872781 )
2014
40
Current advances in childhood absence epilepsy. ( 24530152 )
2014
41
Journal club: pretreatment EEG in childhood absence epilepsy. ( 24799520 )
2014
42
Diffusion tensor tractography reveals disrupted structural connectivity in childhood absence epilepsy. ( 24246142 )
2014
43
Altered spontaneous activity in treatment-naive childhood absence epilepsy revealed by Regional Homogeneity. ( 24746024 )
2014
44
Paying attention to school achievement in childhood absence epilepsy. ( 24872780 )
2014
45
Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. ( 25209080 )
2014
46
Ezogabine treatment of childhood absence epilepsy. ( 24659629 )
2014
47
Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes. ( 25157201 )
2014
48
Viscum Album in the Treatment of a Girl With Refractory Childhood Absence Epilepsy. ( 25038133 )
2014
49
Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy. ( 25347071 )
2014
50
Altered intrinsic functional connectivity of the salience network in childhood absence epilepsy. ( 24642509 )
2014

Variations for Childhood Absence Epilepsy

ClinVar genetic disease variations for Childhood Absence Epilepsy:

6
(show all 28)
# 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 ASF1A; CEP85L; DCBLD1; FAM184A; GOPC; MCM9; NUS1; PLN; SLC35F1 NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 117810940: 119417749
4 PCDH19 NM_001184880.1(PCDH19): c.1091dupC (p.Tyr366Leufs) duplication Pathogenic rs758946412 GRCh37 Chromosome X, 99662505: 99662505
5 PCDH19 NM_001184880.1(PCDH19): c.1091dupC (p.Tyr366Leufs) duplication Pathogenic rs758946412 GRCh38 Chromosome X, 100407507: 100407507
6 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance
7 GABRA6 NM_000811.2(GABRA6): c.663A> G (p.Lys221=) single nucleotide variant Likely benign rs200968260 GRCh37 Chromosome 5, 161116775: 161116775
8 GABRA6 NM_000811.2(GABRA6): c.663A> G (p.Lys221=) single nucleotide variant Likely benign rs200968260 GRCh38 Chromosome 5, 161689769: 161689769
9 GABRA6 NM_000811.2(GABRA6): c.560C> T (p.Thr187Met) single nucleotide variant Benign rs3811993 GRCh38 Chromosome 5, 161689666: 161689666
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.710A> G (p.Gln237Arg) single nucleotide variant Likely benign rs76773579 GRCh38 Chromosome 5, 161690237: 161690237
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.847A> G (p.Met283Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 161691961: 161691961
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.1053A> C (p.Lys351Asn) single nucleotide variant Likely benign rs750458393 GRCh37 Chromosome 5, 161119173: 161119173
16 GABRA6 NM_000811.2(GABRA6): c.1053A> C (p.Lys351Asn) single nucleotide variant Likely benign rs750458393 GRCh38 Chromosome 5, 161692167: 161692167
17 GABRA6 NM_000811.2(GABRA6): c.339G> A (p.Thr113=) single nucleotide variant Likely benign rs113239794 GRCh37 Chromosome 5, 161116068: 161116068
18 GABRA6 NM_000811.2(GABRA6): c.339G> A (p.Thr113=) single nucleotide variant Likely benign rs113239794 GRCh38 Chromosome 5, 161689062: 161689062
19 GABRA6 NM_000811.2(GABRA6): c.371C> G (p.Ser124Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 161116100: 161116100
20 GABRA6 NM_000811.2(GABRA6): c.371C> G (p.Ser124Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 161689094: 161689094
21 GABRA6 NM_000811.2(GABRA6): c.639A> G (p.Gln213=) single nucleotide variant Benign rs34826485 GRCh38 Chromosome 5, 161689745: 161689745
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.1156G> A (p.Glu386Lys) single nucleotide variant Uncertain significance rs773585316 GRCh37 Chromosome 5, 161128573: 161128573
24 GABRA6 NM_000811.2(GABRA6): c.1156G> A (p.Glu386Lys) single nucleotide variant Uncertain significance rs773585316 GRCh38 Chromosome 5, 161701567: 161701567
25 GABRA6 NM_000811.2(GABRA6): c.507T> C (p.Ala169=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 161689314: 161689314
26 GABRA6 NM_000811.2(GABRA6): c.507T> C (p.Ala169=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 161116320: 161116320
27 SCN9A NM_002977.3(SCN9A): c.3295T> C (p.Ser1099Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 167128932: 167128932
28 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 GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 CACNA1A CACNA1G CACNA1H CACNG3 CLCN2 FGFR3
2
Show member pathways
13.26 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
3
Show member pathways
12.9 CACNA1G CACNA1H CACNG3 KCNK9 SCN1B SLC2A1
4
Show member pathways
12.84 CACNA1A CACNA1G CACNA1H CACNG3 GABRA1 GABRA5
5
Show member pathways
12.74 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
6
Show member pathways
12.71 CACNA1A CACNG3 CHRNA4 GABBR1 GABRA1 GABRA5
7 12.64 CACNA1A CACNA1G CACNA1H CACNG3 FGFR3
8
Show member pathways
12.46 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
9
Show member pathways
12.45 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
10
Show member pathways
12.37 CACNA1A CACNA1G CACNA1H CACNG3
11
Show member pathways
12.36 FGFR3 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
12
Show member pathways
12.3 CACNA1A CACNA1G CACNA1H CACNG3
13
Show member pathways
12.19 CACNA1A CACNA1G CACNA1H CACNG3
14
Show member pathways
11.98 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
15 11.96 CACNA1A CACNA1G CACNA1H CACNG3
16
Show member pathways
11.92 CACNA1A GABBR1 GABRA1 GABRA5 GABRA6
17
Show member pathways
11.91 CACNA1A CACNA1G CACNA1H CACNG3
18 11.49 CACNA1A CACNA1G CACNA1H
19 11.46 CACNA1G CACNA1H SCN1B
20
Show member pathways
11.34 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
21
Show member pathways
10.87 GABRA1 GABRG2
22 10.77 CACNA1A CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3
23 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 14)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.99 CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
2 integral component of plasma membrane GO:0005887 9.97 CACNA1H CHRNA4 CLCN2 FGFR3 GABBR1 GABRA1
3 dendrite GO:0030425 9.93 CACNA1A CHRNA4 GABBR1 GABRA5 GABRG2
4 postsynaptic membrane GO:0045211 9.91 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
5 postsynapse GO:0098794 9.8 GABRA1 GABRA5 GABRA6 GABRG2
6 voltage-gated calcium channel complex GO:0005891 9.76 CACNA1A CACNA1G CACNA1H CACNG3
7 dendrite membrane GO:0032590 9.73 GABRA1 GABRA5 GABRA6 GABRG2
8 GABA-A receptor complex GO:1902711 9.35 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
9 chloride channel complex GO:0034707 9.1 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 10.07 CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6 GABRB3
14 synapse GO:0045202 10.01 CACNA1A CHRNA4 GABBR1 GABRA1 GABRA5 GABRA6

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.97 CACNA1A CACNA1G CACNA1H CACNG3 CLCN2 SCN1B
2 ion transmembrane transport GO:0034220 9.96 CACNA1A CACNA1G CACNA1H CHRNA4 CLCN2 GABRA1
3 calcium ion transport GO:0006816 9.92 CACNA1A CACNA1G CACNA1H CACNG3 CHRNA4
4 chloride transmembrane transport GO:1902476 9.91 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
5 chloride transport GO:0006821 9.88 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
6 calcium ion transmembrane transport GO:0070588 9.87 CACNA1A CACNA1G CACNA1H CACNG3
7 nervous system process GO:0050877 9.87 CACNA1A CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3
8 regulation of postsynaptic membrane potential GO:0060078 9.85 CHRNA4 GABRA1 GABRA5 GABRA6 GABRG2
9 negative regulation of neuron apoptotic process GO:0043524 9.81 CACNA1A GABRA5 GABRB3
10 regulation of membrane potential GO:0042391 9.81 CACNA1A CACNA1G CACNA1H CHRNA4 GABRA1 GABRA5
11 synaptic transmission, GABAergic GO:0051932 9.78 GABRA1 GABRA5 GABRA6 GABRG2
12 sodium ion transmembrane transport GO:0035725 9.77 CACNA1G CACNA1H SCN1B
13 membrane depolarization during action potential GO:0086010 9.73 CACNA1A CACNA1G CACNA1H
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 transmission of nerve impulse GO:0019226 9.63 CACNA1A CACNG3
19 innervation GO:0060384 9.62 GABRA5 GABRB3
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 inner ear receptor cell development GO:0060119 9.6 GABRA5 GABRB3
23 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.58 CACNA1G SCN1B
24 inhibitory postsynaptic potential GO:0060080 9.58 CHRNA4 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 transmembrane transport GO:0055085 10.02 CACNA1A CACNA1G CACNA1H CLCN2 SLC2A1
28 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 14)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.81 CACNA1A CACNA1G CACNA1H SCN1B
2 calcium channel activity GO:0005262 9.8 CACNA1A CACNA1G CACNA1H CACNG3
3 chloride channel activity GO:0005254 9.8 CLCN2 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
4 voltage-gated calcium channel activity GO:0005245 9.76 CACNA1A CACNA1G CACNA1H CACNG3
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.73 GABRA1 GABRA5 GABRA6 GABRG2
6 cation channel activity GO:0005261 9.71 CACNA1A CACNA1G CACNA1H
7 benzodiazepine receptor activity GO:0008503 9.71 GABRA1 GABRA5 GABRA6 GABRG2
8 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.67 GABRA1 GABRA5 GABRA6 GABRG2
9 voltage-gated sodium channel activity GO:0005248 9.65 CACNA1G CACNA1H SCN1B
10 GABA-A receptor activity GO:0004890 9.65 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
11 extracellular ligand-gated ion channel activity GO:0005230 9.63 CHRNA4 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
12 low voltage-gated calcium channel activity GO:0008332 9.52 CACNA1G CACNA1H
13 GABA-gated chloride ion channel activity GO:0022851 9.35 GABRA1 GABRA5 GABRA6 GABRB3 GABRG2
14 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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