JAE
MCID: JVN007
MIFTS: 48

Juvenile Absence Epilepsy (JAE)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Juvenile Absence Epilepsy

MalaCards integrated aliases for Juvenile Absence Epilepsy:

Name: Juvenile Absence Epilepsy 12 52 36 15
Epilepsy Juvenile Absence 74 52 29
Childhood Absence Epilepsy 52
Absence Epilepsy 71
Jae 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0060172
KEGG 36 H02216
UMLS 71 C0014553

Summaries for Juvenile Absence Epilepsy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1941 Definition Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures , frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. Epidemiology The incidence of JAE is still unknown but it accounts for approximately 2-3% of patients with adult epilepsy in general, and about 8-10% of patients with genetic generalized epilepsy (GGE). No sex predominance has been observed. Clinical description JAE is characterized by sporadic occurrence of absence seizures (only one or a few absences daily; 100% of cases), frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS; 80%) and sporadic myoclonic jerks (20%). The seizures onset is typically between 9 and 13 years of age and it manifests as a ''staring spell'' that can be accompanied by atonic postures such as drooping of the head and/or automatisms such as lip smacking. GTCS and myoclonic seizures often occur 1-10 years after the absence seizure onset. Patients with JAE usually develop normally, although uncontrolled absence seizures may have an impact on their ability to learn at school. Etiology The exact etiology of JAE is still elusive. However, genetic mutations for voltage-gated sodium channels (CACNB4 gene (2q22-q23)), potassium channels (CLCN2 gene (3q27.1)), and EFHC1 (6p12.3) may be involved in a subset of patients. Moreover, different mutations have been found in genes for GABA receptors (ligand ion channels), specifically in the GABRA1 gene (5q34). Diagnostic methods Diagnosis relies on the clinical features and on electroencephalogram (EEG) recorded awake and during sleep, that displays a generalized 3-4 Hz spike-and-slow-wave complexes. Differential diagnosis Differential diagnosis includes childhood absence epilepsy, juvenile myoclonic epilepsy, Jeavons syndrome (see these terms). Genetic counseling The transmission is still unknown although an increased risk for first degree related parents to develop JME may exist. Management and treatment The antiepileptic drugs of choice are valproic acid (VPA) and lamotrigine (LTG). In cases where VPA deals with only partial seizure control, add-on of LTG (GTCS) or ethosuximide (absence seizures) can be beneficial. Prognosis Prognosis of JAE is usually favorable with good therapy responsiveness. Generally, seizure freedom can be achieved with antiepileptic medication in 62-84% of all patients with JAE. However, the occurrence of GTCS predicts a worse prognosis. Visit the Orphanet disease page for more resources.

MalaCards based summary : Juvenile Absence Epilepsy, also known as epilepsy juvenile absence, is related to angelman syndrome and early myoclonic encephalopathy, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Juvenile Absence Epilepsy is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways are CREB Pathway and G-Beta Gamma Signaling. The drugs Lamotrigine and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, eye and brain, and related phenotypes are generalized tonic-clonic seizures and eeg with polyspike wave complexes

Disease Ontology : 12 An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.

KEGG : 36 Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of generalized tonic-clonic seizure. The sporadic myoclonic jerks may be observed. The seizure onset is typically between 9 and 13 years of age.

Wikipedia : 74 Absence seizures are one of several kinds of generalized seizures. These seizures are sometimes referred... more...

Related Diseases for Juvenile Absence Epilepsy

Diseases in the Juvenile Absence Epilepsy family:

Epilepsy, Juvenile Absence 1 Early Onset Absence Epilepsy

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome 29.5 GABRG2 GABRB3 GABRA1
2 early myoclonic encephalopathy 29.4 SCN1A GABRG2 GABRA1 EFHC1
3 focal epilepsy 29.4 SCN1A GABRG2 CACNA1H
4 west syndrome 29.0 SCN1A GABRG2 GABRB3 GABRA1
5 early onset absence epilepsy 28.5 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
6 generalized epilepsy with febrile seizures plus 28.3 SCN1A GABRG2 GABRB3 GABRA1 EFHC1 CLCN2
7 benign epilepsy with centrotemporal spikes 27.7 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
8 epilepsy, idiopathic generalized 27.6 SCN1A GRIK1 GJA8 GABRG2 GABRB3 GABRA1
9 epilepsy 26.5 SCN1A GABRG2 GABRB3 GABRA1 EFHC1 CLCN2
10 childhood absence epilepsy 25.6 SCN1A GRIK1 GJA8 GABRG2 GABRB3 GABRA1
11 epilepsy, myoclonic juvenile 24.8 SCN1A PIRC4 PIRC2 GJA8 GABRG2 GABRB3
12 epilepsy, juvenile absence 1 12.4
13 epilepsy, idiopathic generalized 11 12.0
14 febrile seizures, familial, 8 11.6
15 epilepsy, childhood absence 6 11.6
16 epilepsy, childhood absence 1 11.5
17 epilepsy, idiopathic generalized 13 11.3
18 glut1 deficiency syndrome 2 11.3
19 megaloblastic anemia due to dihydrofolate reductase deficiency 11.3
20 epilepsy, idiopathic generalized 10 11.3
21 febrile seizures 10.4
22 scoliosis 10.3
23 low compliance bladder 10.3
24 rare surgical neurologic disease 10.3
25 familial hyperaldosteronism 10.3 CLCN2 CACNA1H
26 cataract 1, multiple types 10.3 GJA8 GABRG2
27 cataract 14, multiple types 10.2 GJA8 GABRG2
28 unverricht-lundborg syndrome 10.2 GABRG2 EFHC1
29 immunoglobulin e concentration, serum 10.2
30 attention deficit-hyperactivity disorder 10.1
31 visual epilepsy 10.1
32 status epilepticus 10.1
33 seizure disorder 10.1
34 anxiety 10.0
35 hyperekplexia 10.0 GABRG2 GABRB3 GABRA1
36 myoclonus 10.0
37 episodic kinesigenic dyskinesia 1 10.0 GABRA1 CACNG3
38 epilepsy, childhood absence 5 10.0
39 alacrima, achalasia, and mental retardation syndrome 10.0
40 dystonia 10.0
41 myoclonic epilepsy of infancy 9.9 SCN1A GABRG2
42 familial febrile seizures 9.9 SCN1A GABRG2
43 reflex epilepsy 9.9 SCN1A GABRG2
44 celiac disease 1 9.9
45 amnestic disorder 9.9
46 transient global amnesia 9.9
47 landau-kleffner syndrome 9.8 SCN1A GABRG2
48 epilepsy, nocturnal frontal lobe, 1 9.8 SCN1A GABRG2
49 alcohol dependence 9.8 GRIK1 GABRG2 GABRB3 GABRA1
50 centralopathic epilepsy 9.8

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



Diseases related to Juvenile Absence Epilepsy

Symptoms & Phenotypes for Juvenile Absence Epilepsy

Human phenotypes related to Juvenile Absence Epilepsy:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 31 hallmark (90%) HP:0002069
2 eeg with polyspike wave complexes 31 hallmark (90%) HP:0002392
3 abnormality of eye movement 31 frequent (33%) HP:0000496
4 abnormality of the mouth 31 frequent (33%) HP:0000153
5 absence seizure 31 occasional (7.5%) HP:0002121
6 febrile seizures 31 occasional (7.5%) HP:0002373
7 myoclonus 31 very rare (1%) HP:0001336

UMLS symptoms related to Juvenile Absence Epilepsy:


seizures, absence attacks, absence seizures

MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ALDH5A1 CACNA1G CACNA1H CACNG3 CHRNA7 CLCN2
2 growth/size/body region MP:0005378 9.9 ALDH5A1 CACNA1G CACNA1H CACNG3 CHRNA7 GABRA1
3 nervous system MP:0003631 9.73 ALDH5A1 CACNA1G CACNA1H CACNG3 CHRNA7 CLCN2
4 normal MP:0002873 9.17 CACNG3 CHRNA7 GABRA1 GABRB3 GABRG2 GRIK1

Drugs & Therapeutics for Juvenile Absence Epilepsy

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
3
Ethosuximide Approved Phase 3 77-67-8 3291
4 Neurotransmitter Agents Phase 3
5 Central Nervous System Depressants Phase 3
6 Antipsychotic Agents Phase 3
7 Tranquilizing Agents Phase 3
8 Sodium Channel Blockers Phase 3
9 GABA Agents Phase 3
10 Antimanic Agents Phase 3
11 Diuretics, Potassium Sparing Phase 3
12 Psychotropic Drugs Phase 3
13
Levetiracetam Approved Phase 2 102767-28-2 441341
14
Topiramate Approved Phase 2 97240-79-4 5284627
15
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
16 Nootropic Agents Phase 2
17 Hypoglycemic Agents Phase 2
18 Anticonvulsants Phase 2
19 Pharmaceutical Solutions Phase 2
20 Epidiolex Phase 2
21 Hormones Phase 2
22 calcium channel blockers Phase 2
23 Calcium, Dietary Phase 2
24
Dopamine Approved 51-61-6, 62-31-7 681
25
Apomorphine Approved, Investigational 58-00-4, 41372-20-7 6005
26 Sympathomimetics
27 Gastrointestinal Agents
28 Dopamine agonists
29 Dopamine Agents
30 Autonomic Agents
31 Protective Agents
32 Emetics

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3 ethosuximide;lamotrigine;valproic acid
2 A 30-month Safety and Efficacy Follow-up Study With Levetiracetam at Individualized Optimal Dose in Children (4-17 Years Old at Inclusion) Suffering From Typical Absences in Childhood Absence Epilepsy (CAE) or Juvenile Absence Epilepsy (JAE) Completed NCT00545012 Phase 2 Levetiracetam
3 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
4 A Multicenter, Open-Label, Flexible Dose Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Patients With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03355300 Phase 2 Cannabidiol Oral Solution
5 A Phase 2, Open-label, Dose-finding Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Patients With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
6 A Phase 2a, Safety, Tolerability, Pharmacokinetics, and Quantitative EEG Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Active, not recruiting NCT03406702 Phase 2 CX-8998
7 Evaluation of Lamotrigine in Subjects With Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
8 Hyperventilation During Routine EEG in Children: the Impact of Body Position - Sitting vs Supine- on the Yield of the Procedure in Provoking Absence Seizures Unknown status NCT02766595
9 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
10 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
11 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
12 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
13 Magnetoencephalography in Absence Seizures Completed NCT00884351
14 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
15 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543
16 Longitudinal Early Epilepsy Study Recruiting NCT02954107
17 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures: Near-infrared Spectroscopy (NIRS) Coupled to Electroencephalography (EEG) Active, not recruiting NCT02819427

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Clonazepam
Divalproex Sodium
Ethosuximide
Mephobarbital
methsuximide
phensuximide
Sodium Valproate
Trimethadione
Valproic Acid

Genetic Tests for Juvenile Absence Epilepsy

Genetic tests related to Juvenile Absence Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence 29 EFHC1

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

40
Temporal Lobe, Eye, Brain, Testes, Placenta, Pituitary

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show top 50) (show all 164)
# Title Authors PMID Year
1
Praxis induction and its relationship with cognition in genetic generalized epilepsy. 61
31805510 2020
2
Social impairment and stigma in genetic generalized epilepsies. 61
31931462 2020
3
Default mode network dysfunction in idiopathic generalised epilepsy. 61
31862479 2020
4
Single-subject manual independent component analysis and resting state fMRI connectivity outcomes in patients with juvenile absence epilepsy. 61
31734272 2019
5
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019
6
Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy. 61
31679374 2019
7
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. 61
30530409 2018
8
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. 61
30062784 2018
9
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. 61
29898971 2018
10
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the American Epilepsy Society and the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 61
30254527 2018
11
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. 61
29807291 2018
12
Source analysis of epileptiform discharges in absence epilepsy using Magnetoencephalography (MEG). 61
29232569 2018
13
Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. 61
29465899 2018
14
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 61
29924869 2018
15
Long-term outcome in adolescent-onset generalized genetic epilepsies. 61
28464258 2017
16
Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy? 61
27763964 2017
17
Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. 61
28324682 2017
18
[Classification of idiopathic generalised epilepsies in patients over 16 years of age]. 61
28074997 2017
19
[Pathomorphosis of idiopathic generalized epilepsy. Juvenile forms]. 61
29213036 2017
20
Lacosamide for refractory generalized tonic-clonic seizures of non-focal origin in clinical practice: A clinical and VEEG study. 61
28948142 2017
21
Impaired consciousness in patients with absence seizures investigated by functional MRI, EEG, and behavioural measures: a cross-sectional study. 61
27839650 2016
22
Role for serotonin2A (5-HT2A) and 2C (5-HT2C) receptors in experimental absence seizures. 61
27085605 2016
23
Analysis of rare copy number variation in absence epilepsies. 61
27123475 2016
24
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature. 61
25420625 2016
25
Epileptiform K-Complexes and Sleep Spindles: An Underreported Phenomenon in Genetic Generalized Epilepsy. 61
26587665 2016
26
Seizure outcome in patients with juvenile absence epilepsy. 61
26531750 2016
27
Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. 61
26712538 2016
28
[Anticonvulsive Therapy after the First Unprovoked Seizure – Pros and Cons]. 61
26732716 2016
29
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. 61
27551668 2016
30
Celiac Disease and Juvenile Absence Epilepsy. 61
26626904 2015
31
Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy. 61
25542253 2015
32
Investigation of GRIN2A in common epilepsy phenotypes. 61
26220384 2015
33
Focal seizure symptoms in idiopathic generalized epilepsies. 61
26187225 2015
34
Treatment of pediatric epilepsy in Poland. 61
25682573 2015
35
Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf? 61
26316843 2015
36
Clinical genetic study in juvenile myoclonic epilepsy. 61
25108570 2014
37
Zonisamide for refractory juvenile absence epilepsy. 61
24907183 2014
38
Calcium channel antibodies in patients with absence epilepsy. 61
24147594 2014
39
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. 61
24684814 2014
40
Low-dose sodium valproate in the treatment of idiopathic generalized epilepsies. 61
24372179 2014
41
Altered thalamocortical functional connectivity in idiopathic generalized epilepsy. 61
24650142 2014
42
Generalized spike and waves: effect of discharge duration on brain networks as revealed by BOLD fMRI. 61
23990340 2014
43
[Antiepileptic drugs and seizure aggravation]. 61
25591652 2014
44
Seizures from valproate-carbapenem interaction. 61
23932807 2013
45
Absence status seen in an adult patient. 61
24250182 2013
46
Patterns of cortical hyperexcitability in adolescent/adult-onset generalized epilepsies. 61
23551088 2013
47
Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India. 61
23956556 2013
48
Idiopathic generalized epilepsies. 61
23622205 2013
49
A clinical study of syndromes of idiopathic (genetic) generalized epilepsy. 61
23149265 2013
50
[A paradoxical reaction on valproates in a female patient with juvenile absence epilepsy]. 61
23739458 2013

Variations for Juvenile Absence Epilepsy

Expression for Juvenile Absence Epilepsy

Search GEO for disease gene expression data for Juvenile Absence Epilepsy.

Pathways for Juvenile Absence Epilepsy

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 GRIK1 CHRNA7 CACNG3 CACNA1I CACNA1H CACNA1G
2
Show member pathways
12.82 SCN1A GJA8 CACNG3 CACNA1I CACNA1H CACNA1G
3
Show member pathways
12.69 GABRG2 GABRB3 GABRA1 CACNG3 CACNA1I CACNA1H
4 12.57 CACNG3 CACNA1I CACNA1H CACNA1G
5
Show member pathways
12.49 CACNG3 CACNA1I CACNA1H CACNA1G
6
Show member pathways
12.47 SCN1A GRIK1 CHRNA7 CACNA1I CACNA1H CACNA1G
7
Show member pathways
12.35 GRIK1 GABRG2 GABRB3 GABRA1 CHRNA7 CACNG3
8
Show member pathways
12.34 GABRG2 GABRB3 GABRA1 CLCN2
9
Show member pathways
12.15 CACNG3 CACNA1I CACNA1H CACNA1G
10
Show member pathways
12.09 CHRNA7 CACNA1I CACNA1H CACNA1G
11
Show member pathways
11.89 GABRG2 GABRB3 GABRA1
12 11.86 CACNG3 CACNA1I CACNA1H CACNA1G
13
Show member pathways
11.78 CACNG3 CACNA1I CACNA1H CACNA1G
14 11.55 CACNG3 CACNA1I CACNA1H CACNA1G
15 11.52 CACNA1I CACNA1H CACNA1G
16 11.45 CACNA1I CACNA1H CACNA1G
17
Show member pathways
11.26 GABRG2 GABRB3 GABRA1
18 11.18 CACNA1I CACNA1H CACNA1G
19
Show member pathways
10.82 GABRG2 GABRA1
20 10.56 GABRG2 GABRB3 GABRA1
21 10.53 GABRG2 GABRB3 GABRA1 CHRNA7

GO Terms for Juvenile Absence Epilepsy

Cellular components related to Juvenile Absence Epilepsy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.26 SCN1A GRIK1 GJA8 GABRG2 GABRB3 GABRA1
2 plasma membrane GO:0005886 10.18 SCN1A GRIK1 GJA8 GABRG2 GABRB3 GABRA1
3 integral component of plasma membrane GO:0005887 9.97 GRIK1 GJA8 GABRG2 GABRB3 GABRA1 CLCN2
4 cell junction GO:0030054 9.93 GRIK1 GJA8 GABRG2 GABRB3 GABRA1 CHRNA7
5 synapse GO:0045202 9.91 GRIK1 GABRG2 GABRB3 GABRA1 CHRNA7 CACNA1G
6 neuron projection GO:0043005 9.83 GABRG2 GABRB3 GABRA1 CHRNA7
7 postsynaptic membrane GO:0045211 9.72 GRIK1 GABRG2 GABRB3 GABRA1 CHRNA7
8 cytoplasmic vesicle membrane GO:0030659 9.71 GABRG2 GABRB3 GABRA1
9 postsynapse GO:0098794 9.69 GABRG2 GABRA1 CHRNA7
10 GABA-ergic synapse GO:0098982 9.67 GABRG2 GABRB3 GABRA1
11 postsynaptic density membrane GO:0098839 9.56 GRIK1 CACNG3
12 dendrite membrane GO:0032590 9.55 GABRG2 GABRA1
13 chloride channel complex GO:0034707 9.46 GABRG2 GABRB3 GABRA1 CLCN2
14 GABA-A receptor complex GO:1902711 9.43 GABRG2 GABRB3 GABRA1
15 voltage-gated calcium channel complex GO:0005891 9.26 CACNG3 CACNA1I CACNA1H CACNA1G
16 voltage-gated sodium channel complex GO:0001518 8.92 SCN1A CACNA1I CACNA1H CACNA1G

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.07 SCN1A GJA8 CLCN2 CACNA1I CACNA1H CACNA1G
2 calcium ion transport GO:0006816 9.89 CHRNA7 CACNG3 CACNA1I CACNA1H CACNA1G
3 chemical synaptic transmission GO:0007268 9.88 GRIK1 GABRG2 GABRB3 GABRA1 CHRNA7 CACNA1G
4 chloride transmembrane transport GO:1902476 9.87 GABRG2 GABRB3 GABRA1 CLCN2
5 chloride transport GO:0006821 9.85 GABRG2 GABRB3 GABRA1 CLCN2
6 sodium ion transmembrane transport GO:0035725 9.84 SCN1A CACNA1I CACNA1H CACNA1G
7 regulation of postsynaptic membrane potential GO:0060078 9.83 GRIK1 GABRG2 GABRA1 CHRNA7
8 calcium ion transmembrane transport GO:0070588 9.83 CHRNA7 CACNG3 CACNA1I CACNA1H CACNA1G
9 nervous system process GO:0050877 9.81 GABRG2 GABRB3 GABRA1 CHRNA7
10 regulation of ion transmembrane transport GO:0034765 9.8 SCN1A CLCN2 CACNG3 CACNA1I CACNA1H CACNA1G
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.76 GABRG2 GABRB3 GABRA1
12 calcium ion import GO:0070509 9.75 CACNA1I CACNA1H CACNA1G
13 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.73 CACNA1I CACNA1H CACNA1G
14 regulation of membrane potential GO:0042391 9.7 SCN1A GABRG2 GABRB3 GABRA1 CHRNA7 CACNA1H
15 neuronal action potential GO:0019228 9.67 SCN1A CACNA1I CACNA1H CACNA1G
16 inhibitory synapse assembly GO:1904862 9.65 GABRG2 GABRB3 GABRA1
17 cellular response to histamine GO:0071420 9.63 GABRG2 GABRB3 GABRA1
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1A CACNA1G
19 ion transmembrane transport GO:0034220 9.61 SCN1A GRIK1 GABRG2 GABRB3 GABRA1 CLCN2
20 synaptic transmission, GABAergic GO:0051932 9.6 GABRG2 GABRA1
21 membrane depolarization during action potential GO:0086010 9.56 SCN1A CACNA1I CACNA1H CACNA1G
22 ion transport GO:0006811 9.36 SCN1A GRIK1 GABRG2 GABRB3 GABRA1 CLCN2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.8 SCN1A CACNA1I CACNA1H CACNA1G
2 chloride channel activity GO:0005254 9.76 GABRG2 GABRB3 GABRA1 CLCN2
3 extracellular ligand-gated ion channel activity GO:0005230 9.71 GABRG2 GABRB3 GABRA1 CHRNA7
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GRIK1 GABRG2 GABRB3 GABRA1
5 GABA-A receptor activity GO:0004890 9.65 GABRG2 GABRB3 GABRA1
6 calcium channel activity GO:0005262 9.65 CHRNA7 CACNG3 CACNA1I CACNA1H CACNA1G
7 voltage-gated calcium channel activity GO:0005245 9.62 CACNG3 CACNA1I CACNA1H CACNA1G
8 GABA-gated chloride ion channel activity GO:0022851 9.61 GABRG2 GABRB3 GABRA1
9 benzodiazepine receptor activity GO:0008503 9.52 GABRG2 GABRA1
10 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.51 GABRG2 GABRA1
11 voltage-gated sodium channel activity GO:0005248 9.46 SCN1A CACNA1I CACNA1H CACNA1G
12 ion channel activity GO:0005216 9.28 SCN1A GRIK1 GABRG2 GABRB3 GABRA1 CHRNA7
13 low voltage-gated calcium channel activity GO:0008332 9.13 CACNA1I CACNA1H CACNA1G

Sources for Juvenile Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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