JAE
MCID: JVN007
MIFTS: 47

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
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 febrile seizures, familial, 8 and febrile seizures, 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 Peptide ligand-binding receptors and CREB Pathway. The drugs Lamotrigine and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are eeg with polyspike wave complexes and bilateral tonic-clonic seizure

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 103)
# Related Disease Score Top Affiliating Genes
1 febrile seizures, familial, 8 32.4 SCN1A GABRG2
2 febrile seizures 30.2 SCN1A GABRG2 CHRNB2
3 west syndrome 29.5 SCN1A GABRG2 GABRB3 GABRA1
4 early myoclonic encephalopathy 29.0 SCN1A GABRG2 GABRB3 GABRA1 EFHC1 CHRNA4
5 focal epilepsy 28.7 SCN1A GABRG2 CHRNB2 CHRNA4 CACNA1H
6 early onset absence epilepsy 28.4 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
7 epilepsy, idiopathic generalized 27.9 SCN1A GRIK1 GJA8 GABRG2 GABRB3 GABRA1
8 benign epilepsy with centrotemporal spikes 27.6 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
9 generalized epilepsy with febrile seizures plus 27.5 SCN1A GABRG2 GABRB3 GABRA1 EFHC1 CLCN2
10 epilepsy 26.7 SCN1A GABRG2 GABRB3 GABRA1 EFHC1 CLCN2
11 epilepsy, myoclonic juvenile 26.1 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
12 childhood absence epilepsy 25.9 SCN1A GRIK1 GJA8 GABRG2 GABRB3 GABRA1
13 epilepsy, juvenile absence 1 12.4
14 epilepsy, idiopathic generalized 11 12.0
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 scoliosis 10.4
22 low compliance bladder 10.4
23 familial hyperaldosteronism 10.3 CLCN2 CACNA1H
24 cataract 1, multiple types 10.2 GJA8 GABRG2
25 cataract 14, multiple types 10.2 GJA8 GABRG2
26 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
27 progressive myoclonus epilepsy 4 10.2 CACNA1I CACNA1H
28 febrile seizures, familial, 6 10.2 SCN1A GABRG2
29 immunoglobulin e concentration, serum 10.2
30 febrile seizures, familial, 5 10.2 SCN1A GABRG2
31 generalized epilepsy with febrile seizures plus, type 2 10.1 SCN1A GABRG2
32 generalized epilepsy with febrile seizures plus, type 1 10.1 SCN1A GABRG2
33 landau-kleffner syndrome 10.1 SCN1A GABRG2
34 attention deficit-hyperactivity disorder 10.1
35 febrile seizures, familial, 11 10.1 SCN1A GABRG2
36 visual epilepsy 10.1
37 status epilepticus 10.1
38 seizure disorder 10.1
39 generalized epilepsy with febrile seizures plus, type 7 10.1 SCN1A GABRG2
40 febrile seizures, familial, 2 10.1 SCN1A GABRG2 EFHC1
41 anxiety 10.0
42 myoclonus 10.0
43 benign familial neonatal epilepsy 10.0 SCN1A GABRG2 GABRA1
44 epilepsy, familial temporal lobe, 5 10.0 SCN1A GABRG2
45 epilepsy, childhood absence 5 10.0
46 alacrima, achalasia, and mental retardation syndrome 10.0
47 dystonia 10.0
48 febrile seizures, familial, 4 9.9 SCN1A GABRG2
49 episodic kinesigenic dyskinesia 1 9.9 GABRA1 CHRNA4 CACNG3
50 epilepsy, nocturnal frontal lobe, 2 9.9 CHRNB2 CHRNA4

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 eeg with polyspike wave complexes 31 hallmark (90%) HP:0002392
2 bilateral tonic-clonic seizure 31 hallmark (90%) HP:0002069
3 abnormality of eye movement 31 frequent (33%) HP:0000496
4 abnormality of the mouth 31 frequent (33%) HP:0000153
5 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
6 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
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 10.13 ALDH5A1 CACNA1G CACNA1H CACNG3 CHRNA4 CHRNB2
2 growth/size/body region MP:0005378 9.93 ALDH5A1 CACNA1G CACNA1H CACNG3 CHRNB2 GABRA1
3 homeostasis/metabolism MP:0005376 9.7 ALDH5A1 CACNA1G CACNG3 CHRNA4 CHRNB2 CLCN2
4 nervous system MP:0003631 9.47 ALDH5A1 CACNA1G CACNA1H CACNG3 CHRNA4 CHRNB2

Drugs & Therapeutics for Juvenile Absence Epilepsy

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

(show all 24)
# 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 Anticonvulsants Phase 3
5 Neurotransmitter Agents Phase 3
6 Hormones Phase 3
7 Sodium Channel Blockers Phase 3
8 Psychotropic Drugs Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Calcium, Dietary Phase 3
11 calcium channel blockers Phase 3
12 Antipsychotic Agents Phase 3
13
Calcium Nutraceutical Phase 3 7440-70-2 271
14
Levetiracetam Approved Phase 2 102767-28-2 441341
15
Topiramate Approved Phase 2 97240-79-4 5284627
16 Hypoglycemic Agents Phase 2
17 Pharmaceutical Solutions Phase 2
18 Epidiolex Phase 2
19
Dopamine Approved 51-61-6, 62-31-7 681
20
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
21 Dopamine Agents
22 Gastrointestinal Agents
23 Dopamine agonists
24 Emetics

Interventional clinical trials:

(show all 19)
# 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 Prospective, Case-control Evaluation of Ketogenic Dietary Therapy for New-onset Childhood Absence Epilepsy Not yet recruiting NCT04274179 Phase 3 Absence epilepsy medications
3 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
4 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
5 A Phase 2a, Safety, Tolerability, Pharmacokinetics, and Quantitative EEG Study of CX-8998 in Adolescents and Adults With Idiopathic Generalized Epilepsy With Absence Seizures Completed NCT03406702 Phase 2 CX-8998
6 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
7 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
8 Evaluation of Lamotrigine in Subjects With Absence Seizures Completed NCT00144872 Phase 1 Lamotrigine
9 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
10 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Levetiracetam
11 Search for Genes Influencing Childhood Absence Epilepsy Study Completed NCT00041951
12 Functional Neuroimaging in Childhood Absence Epilepsy Completed NCT00393666
13 Anatomical and Functional MRI Study of Episodic Memory in Epileptic Compared to Normal Children Completed NCT00242905
14 Magnetoencephalography in Absence Seizures Completed NCT00884351
15 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
16 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543
17 Longitudinal Early Epilepsy Study Recruiting NCT02954107
18 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
19 Detecting Absence Seizures Using Eye Tracking Not yet recruiting NCT04439656

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

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

40
Eye, Brain, Testes, Temporal Lobe

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show top 50) (show all 168)
# Title Authors PMID Year
1
Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit. 61
32524043 2020
2
High-power, frontal-dominant ripples in absence status epilepticus during childhood. 61
32299003 2020
3
Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome. 61
32504278 2020
4
Social impairment and stigma in genetic generalized epilepsies. 61
31931462 2020
5
Single-subject manual independent component analysis and resting state fMRI connectivity outcomes in patients with juvenile absence epilepsy. 61
31734272 2020
6
Default mode network dysfunction in idiopathic generalised epilepsy. 61
31862479 2020
7
Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging. 61
32210904 2020
8
Praxis induction and its relationship with cognition in genetic generalized epilepsy. 61
31805510 2020
9
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 61
31435640 2019
10
Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy. 61
31679374 2019
11
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. 61
30530409 2018
12
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. 61
30062784 2018
13
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
14
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
15
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. 61
29807291 2018
16
Source analysis of epileptiform discharges in absence epilepsy using Magnetoencephalography (MEG). 61
29232569 2018
17
Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. 61
29465899 2018
18
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 61
29924869 2018
19
Long-term outcome in adolescent-onset generalized genetic epilepsies. 61
28464258 2017
20
Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy? 61
27763964 2017
21
Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. 61
28324682 2017
22
[Classification of idiopathic generalised epilepsies in patients over 16 years of age]. 61
28074997 2017
23
[Pathomorphosis of idiopathic generalized epilepsy. Juvenile forms]. 61
29213036 2017
24
Lacosamide for refractory generalized tonic-clonic seizures of non-focal origin in clinical practice: A clinical and VEEG study. 61
28948142 2017
25
Impaired consciousness in patients with absence seizures investigated by functional MRI, EEG, and behavioural measures: a cross-sectional study. 61
27839650 2016
26
Role for serotonin2A (5-HT2A) and 2C (5-HT2C) receptors in experimental absence seizures. 61
27085605 2016
27
Analysis of rare copy number variation in absence epilepsies. 61
27123475 2016
28
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature. 61
25420625 2016
29
Epileptiform K-Complexes and Sleep Spindles: An Underreported Phenomenon in Genetic Generalized Epilepsy. 61
26587665 2016
30
Seizure outcome in patients with juvenile absence epilepsy. 61
26531750 2016
31
Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. 61
26712538 2016
32
[Anticonvulsive Therapy after the First Unprovoked Seizure – Pros and Cons]. 61
26732716 2016
33
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. 61
27551668 2016
34
Celiac Disease and Juvenile Absence Epilepsy. 61
26626904 2015
35
Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy. 61
25542253 2015
36
Investigation of GRIN2A in common epilepsy phenotypes. 61
26220384 2015
37
Focal seizure symptoms in idiopathic generalized epilepsies. 61
26187225 2015
38
Treatment of pediatric epilepsy in Poland. 61
25682573 2015
39
Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf? 61
26316843 2015
40
Clinical genetic study in juvenile myoclonic epilepsy. 61
25108570 2014
41
Zonisamide for refractory juvenile absence epilepsy. 61
24907183 2014
42
Calcium channel antibodies in patients with absence epilepsy. 61
24147594 2014
43
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. 61
24684814 2014
44
Low-dose sodium valproate in the treatment of idiopathic generalized epilepsies. 61
24372179 2014
45
Altered thalamocortical functional connectivity in idiopathic generalized epilepsy. 61
24650142 2014
46
[Antiepileptic drugs and seizure aggravation]. 61
25591652 2014
47
Generalized spike and waves: effect of discharge duration on brain networks as revealed by BOLD fMRI. 61
23990340 2014
48
Seizures from valproate-carbapenem interaction. 61
23932807 2013
49
Absence status seen in an adult patient. 61
24250182 2013
50
Patterns of cortical hyperexcitability in adolescent/adult-onset generalized epilepsies. 61
23551088 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 GRM8 GRIK1 GABRG2 GABRB3 GABRA1 CHRNB2
2
Show member pathways
13.12 GRM8 GRIK1 CHRNA4 CACNG3 CACNA1I CACNA1H
3
Show member pathways
12.8 GABRG2 GABRB3 GABRA1 CACNG3 CACNA1I CACNA1H
4
Show member pathways
12.74 SCN1A GRM8 GJA8 CACNG3 CACNA1I CACNA1H
5
Show member pathways
12.61 GRIK1 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
6 12.57 CACNG3 CACNA1I CACNA1H CACNA1G
7
Show member pathways
12.48 CACNG3 CACNA1I CACNA1H CACNA1G
8
Show member pathways
12.34 GABRG2 GABRB3 GABRA1 CLCN2
9
Show member pathways
12.23 SCN1A GRM8 GRIK1 CHRNB2 CHRNA4 CACNA1I
10
Show member pathways
12.15 CACNG3 CACNA1I CACNA1H CACNA1G
11 11.98 GABRA1 CHRNB2 CHRNA4
12 11.91 CACNG3 CACNA1I CACNA1H CACNA1G
13
Show member pathways
11.89 GABRG2 GABRB3 GABRA1
14
Show member pathways
11.82 CACNG3 CACNA1I CACNA1H CACNA1G
15 11.55 CACNG3 CACNA1I CACNA1H CACNA1G
16 11.52 CACNA1I CACNA1H CACNA1G
17 11.45 CACNA1I CACNA1H CACNA1G
18
Show member pathways
11.28 GABRG2 GABRB3 GABRA1
19 11.18 CACNA1I CACNA1H CACNA1G
20
Show member pathways
10.82 GABRG2 GABRA1
21 10.66 GABRG2 GABRB3 GABRA1
22 10.62 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4

GO Terms for Juvenile Absence Epilepsy

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.37 SCN1A GRM8 GRIK1 GJA8 GABRG2 GABRB3
2 integral component of membrane GO:0016021 10.32 SCN1A GRM8 GRIK1 GJA8 GABRG2 GABRB3
3 plasma membrane GO:0005886 10.3 SCN1A GRM8 GRIK1 GJA8 GABRG2 GABRB3
4 cell junction GO:0030054 10.03 KLHL17 GRIK1 GJA8 GABRG2 GABRB3 GABRA1
5 synapse GO:0045202 9.97 KLHL17 GRIK1 GABRG2 GABRB3 GABRA1 CHRNB2
6 integral component of plasma membrane GO:0005887 9.96 GRM8 GRIK1 GJA8 GABRG2 GABRB3 GABRA1
7 neuronal cell body GO:0043025 9.86 SCN1A KLHL17 EFHC1 CHRNA4
8 cytoplasmic vesicle membrane GO:0030659 9.75 GABRG2 GABRB3 GABRA1
9 chloride channel complex GO:0034707 9.71 GABRG2 GABRB3 GABRA1 CLCN2
10 GABA-ergic synapse GO:0098982 9.69 GABRG2 GABRB3 GABRA1
11 GABA-A receptor complex GO:1902711 9.67 GABRG2 GABRB3 GABRA1
12 postsynaptic membrane GO:0045211 9.63 GRIK1 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
13 voltage-gated calcium channel complex GO:0005891 9.62 CACNG3 CACNA1I CACNA1H CACNA1G
14 integral component of postsynaptic specialization membrane GO:0099060 9.57 GABRA1 CHRNB2
15 acetylcholine-gated channel complex GO:0005892 9.55 CHRNB2 CHRNA4
16 dopaminergic synapse GO:0098691 9.54 CHRNB2 CHRNA4
17 voltage-gated sodium channel complex GO:0001518 9.26 SCN1A CACNA1I CACNA1H CACNA1G
18 neuron projection GO:0043005 9.23 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4 CACNA1I

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.19 GRM8 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
2 transmembrane transport GO:0055085 10.08 SCN1A GJA8 CLCN2 CACNA1I CACNA1H CACNA1G
3 regulation of ion transmembrane transport GO:0034765 9.93 SCN1A CLCN2 CACNG3 CACNA1I CACNA1H CACNA1G
4 calcium ion transport GO:0006816 9.91 CHRNB2 CHRNA4 CACNG3 CACNA1I CACNA1H CACNA1G
5 calcium ion transmembrane transport GO:0070588 9.89 CACNG3 CACNA1I CACNA1H CACNA1G
6 chloride transmembrane transport GO:1902476 9.88 GABRG2 GABRB3 GABRA1 CLCN2
7 sodium ion transmembrane transport GO:0035725 9.86 SCN1A CACNA1I CACNA1H CACNA1G
8 chloride transport GO:0006821 9.84 GABRG2 GABRB3 GABRA1 CLCN2
9 neuronal action potential GO:0019228 9.8 SCN1A CACNA1I CACNA1H CACNA1G
10 chemical synaptic transmission GO:0007268 9.8 GRIK1 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
11 action potential GO:0001508 9.78 SCN1A CHRNB2 CHRNA4 CACNA1G
12 regulation of postsynaptic membrane potential GO:0060078 9.77 GRIK1 GABRG2 GABRA1 CHRNB2 CHRNA4
13 gamma-aminobutyric acid signaling pathway GO:0007214 9.76 GABRG2 GABRB3 GABRA1
14 regulation of membrane potential GO:0042391 9.76 SCN1A GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
15 calcium ion import GO:0070509 9.74 CACNA1I CACNA1H CACNA1G
16 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.72 CACNA1I CACNA1H CACNA1G
17 nervous system process GO:0050877 9.72 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
18 membrane depolarization during action potential GO:0086010 9.71 SCN1A CACNA1I CACNA1H CACNA1G
19 inhibitory synapse assembly GO:1904862 9.7 GABRG2 GABRB3 GABRA1
20 cellular response to histamine GO:0071420 9.69 GABRG2 GABRB3 GABRA1
21 ion transmembrane transport GO:0034220 9.65 SCN1A GRIK1 GABRG2 GABRB3 GABRA1 CLCN2
22 synaptic transmission, cholinergic GO:0007271 9.64 CHRNB2 CHRNA4
23 membrane depolarization GO:0051899 9.63 CHRNB2 CHRNA4
24 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 SCN1A CACNA1G
25 synaptic transmission, GABAergic GO:0051932 9.62 GABRG2 GABRA1
26 acetylcholine receptor signaling pathway GO:0095500 9.62 CHRNB2 CHRNA4
27 inhibitory postsynaptic potential GO:0060080 9.61 GABRB3 CHRNA4
28 behavioral response to nicotine GO:0035095 9.61 CHRNB2 CHRNA4
29 ion transport GO:0006811 9.4 SCN1A GRIK1 GABRG2 GABRB3 GABRA1 CLCN2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.95 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
2 calcium channel activity GO:0005262 9.83 CACNG3 CACNA1I CACNA1H CACNA1G
3 chloride channel activity GO:0005254 9.8 GABRG2 GABRB3 GABRA1 CLCN2
4 neurotransmitter receptor activity GO:0030594 9.8 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
5 cation channel activity GO:0005261 9.76 SCN1A CACNA1I CACNA1H CACNA1G
6 voltage-gated calcium channel activity GO:0005245 9.73 CACNG3 CACNA1I CACNA1H CACNA1G
7 voltage-gated ion channel activity GO:0005244 9.73 SCN1A CLCN2 CACNG3 CACNA1I CACNA1H CACNA1G
8 ligand-gated ion channel activity GO:0015276 9.71 GRIK1 CHRNB2 CHRNA4
9 GABA-A receptor activity GO:0004890 9.69 GABRG2 GABRB3 GABRA1
10 voltage-gated sodium channel activity GO:0005248 9.67 SCN1A CACNA1I CACNA1H CACNA1G
11 GABA-gated chloride ion channel activity GO:0022851 9.65 GABRG2 GABRB3 GABRA1
12 glutamate receptor activity GO:0008066 9.6 GRM8 GRIK1
13 acetylcholine binding GO:0042166 9.59 CHRNB2 CHRNA4
14 acetylcholine-gated cation-selective channel activity GO:0022848 9.58 CHRNB2 CHRNA4
15 acetylcholine receptor activity GO:0015464 9.58 CHRNB2 CHRNA4
16 benzodiazepine receptor activity GO:0008503 9.57 GABRG2 GABRA1
17 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.56 GABRG2 GABRA1
18 extracellular ligand-gated ion channel activity GO:0005230 9.55 GABRG2 GABRB3 GABRA1 CHRNB2 CHRNA4
19 low voltage-gated calcium channel activity GO:0008332 9.5 CACNA1I CACNA1H CACNA1G
20 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.35 GRIK1 GABRG2 GABRB3 GABRA1 CHRNB2
21 ion channel activity GO:0005216 9.32 SCN1A GRIK1 GABRG2 GABRB3 GABRA1 CHRNB2

Sources for Juvenile Absence Epilepsy

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