JAE
MCID: JVN007
MIFTS: 45

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 53 37 15
Epilepsy Juvenile Absence 76 53 29 6
Childhood Absence Epilepsy 53
Absence Epilepsy 73
Jae 53

Classifications:



Summaries for Juvenile Absence Epilepsy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1941Disease definitionJuvenile 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.EpidemiologyThe 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 descriptionJAE 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.EtiologyThe 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 methodsDiagnosis 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 diagnosisDifferential diagnosis includes childhood absence epilepsy, juvenile myoclonic epilepsy, Jeavons syndrome (see these terms).Genetic counselingThe transmission is still unknown although an increased risk for first degree related parents to develop JME may exist.Management and treatmentThe 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.PrognosisPrognosis 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 childhood absence epilepsy and epilepsy, idiopathic generalized 10, and has symptoms including seizures, absence seizures and absence attacks. An important gene associated with Juvenile Absence Epilepsy is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways is Transmission across Chemical Synapses. The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prostate, and related phenotypes are abnormality of eye movement and myoclonus

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.

Wikipedia : 76 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 all 37)
# Related Disease Score Top Affiliating Genes
1 childhood absence epilepsy 32.6 ALDH5A1 CACNA1H CLCN2 EFHC1 GABRA1 GJA8
2 epilepsy, idiopathic generalized 10 31.5 CLCN2 EFHC1 GABRA1 GJA8
3 epilepsy, idiopathic generalized 30.7 ALDH5A1 CACNA1H CLCN2 EFHC1 GABRA1
4 epilepsy 30.1 CACNA1H CLCN2 EFHC1 GABRA1
5 epilepsy, juvenile absence 1 12.1
6 epilepsy, idiopathic generalized 11 11.9
7 epilepsy, idiopathic generalized 13 11.1
8 epilepsy, childhood absence 6 11.1
9 glut1 deficiency syndrome 2 11.1
10 megaloblastic anemia due to dihydrofolate reductase deficiency 11.1
11 epilepsy, childhood absence 1 11.0
12 generalized epilepsy with febrile seizures plus, type 3 11.0
13 carney complex, type 1 10.1
14 prostate cancer 10.1
15 caronte 10.1
16 wrinkles 10.1
17 benign epilepsy with centrotemporal spikes 10.0
18 febrile seizures 10.0
19 celiac disease 1 9.9
20 amnestic disorder 9.9
21 transient global amnesia 9.9
22 epilepsy with generalized tonic-clonic seizures 9.8 CACNA1H EFHC1
23 generalized epilepsy with febrile seizures plus 9.8 EFHC1 GABRA1
24 attention deficit-hyperactivity disorder 9.8
25 aging 9.8
26 epilepsy, idiopathic generalized 7 9.8
27 anxiety 9.8
28 west syndrome 9.8
29 periventricular nodular heterotopia 9.8
30 focal epilepsy 9.8
31 dystonia 9.8
32 myoclonus epilepsy 9.8
33 depression 9.8
34 myoclonus 9.8
35 familial hyperaldosteronism 9.8 CACNA1H CLCN2
36 childhood electroclinical syndrome 9.5 CACNA1H EFHC1 GABRA1 GJA8
37 adolescence-adult electroclinical syndrome 9.3 CACNA1H CLCN2 EFHC1 GABRA1 GJA8

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 32 frequent (33%) HP:0000496
2 myoclonus 32 very rare (1%) HP:0001336
3 generalized tonic-clonic seizures 32 hallmark (90%) HP:0002069
4 eeg with polyspike wave complexes 32 hallmark (90%) HP:0002392
5 abnormality of the mouth 32 frequent (33%) HP:0000153
6 absence seizures 32 occasional (7.5%) HP:0002121
7 febrile seizures 32 occasional (7.5%) HP:0002373

UMLS symptoms related to Juvenile Absence Epilepsy:


seizures, absence seizures, absence attacks

MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ALDH5A1 CACNA1H CLCN2 EFHC1 GABRA1 GRIK1
2 muscle MP:0005369 9.26 ALDH5A1 CACNA1H EFHC1 GABRA1
3 nervous system MP:0003631 9.1 ALDH5A1 CACNA1H CLCN2 EFHC1 GABRA1 GRIK1

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
Ethosuximide Approved Phase 3 77-67-8 3291
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
4 Diuretics, Potassium Sparing Phase 3
5 Excitatory Amino Acid Antagonists Phase 3
6 Central Nervous System Depressants Phase 3
7 Calcium, Dietary Phase 3
8 GABA Agents Phase 3
9 Antimanic Agents Phase 3
10 Tranquilizing Agents Phase 3
11 Sodium Channel Blockers Phase 3
12 calcium channel blockers Phase 3
13 Anticonvulsants Phase 3,Phase 2,Not Applicable
14 Psychotropic Drugs Phase 3
15 Neurotransmitter Agents Phase 3
16 Excitatory Amino Acids Phase 3
17
Topiramate Approved Phase 2 97240-79-4 5284627
18 Piracetam Approved, Investigational Phase 2,Not Applicable 7491-74-9
19 Etiracetam Investigational Phase 2,Not Applicable 33996-58-6
20 Protective Agents Phase 2,Not Applicable
21 Neuroprotective Agents Phase 2,Not Applicable
22 Anti-Obesity Agents Phase 2
23 Nootropic Agents Phase 2,Not Applicable
24 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# 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 Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2 topiramate
3 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2 Levetiracetam
4 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
5 Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03336242 Phase 2 Cannabidiol Oral Solution
6 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010 Not Applicable Levetiracetam
7 Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study Completed NCT00041951
8 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
9 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905
10 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543 Not Applicable

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Eye, Brain, Prostate

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show all 20)
# Title Authors Year
1
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
2
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. ( 30530409 )
2018
3
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. ( 27551668 )
2016
4
Celiac Disease and Juvenile Absence Epilepsy. ( 26626904 )
2015
5
Seizure outcome in patients with juvenile absence epilepsy. ( 26531750 )
2015
6
Zonisamide for refractory juvenile absence epilepsy. ( 24907183 )
2014
7
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. ( 24684814 )
2014
8
The double generalization phenomenon in juvenile absence epilepsy. ( 21571594 )
2011
9
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures. ( 21320115 )
2011
10
Temporal intermittent I' activity: a marker of juvenile absence epilepsy? ( 21044851 )
2011
11
Long term prognosis of juvenile absence epilepsy. ( 21163225 )
2011
12
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. ( 19616977 )
2010
13
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. ( 20061122 )
2010
14
Juvenile absence epilepsy exacerbated by valproic acid. ( 17275666 )
2007
15
Outcome of children with juvenile absence epilepsy. ( 16970883 )
2006
16
Long-term prognosis for childhood and juvenile absence epilepsy. ( 15503104 )
2004
17
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
18
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. ( 11920863 )
2002
19
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. ( 9259378 )
1997
20
Clinical and genetic aspects of juvenile absence epilepsy. ( 7964917 )
1994

Variations for Juvenile Absence Epilepsy

ClinVar genetic disease variations for Juvenile Absence Epilepsy:

6 (show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh37 Chromosome 6, 52317597: 52317597
2 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh38 Chromosome 6, 52452799: 52452799
3 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh37 Chromosome 6, 52288909: 52288909
4 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh38 Chromosome 6, 52424111: 52424111
5 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh37 Chromosome 6, 52303336: 52303336
6 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh38 Chromosome 6, 52438538: 52438538
7 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh37 Chromosome 6, 52318945: 52318945
8 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh38 Chromosome 6, 52454147: 52454147
9 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh37 Chromosome 6, 52317574: 52317574
10 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh38 Chromosome 6, 52452776: 52452776
11 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh37 Chromosome 6, 52317541: 52317541
12 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh38 Chromosome 6, 52452743: 52452743
13 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh37 Chromosome 6, 52334148: 52334148
14 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh38 Chromosome 6, 52469350: 52469350
15 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh37 Chromosome 6, 52334217: 52334217
16 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh38 Chromosome 6, 52469419: 52469419
17 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh37 Chromosome 6, 52343899: 52343899
18 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh38 Chromosome 6, 52479101: 52479101
19 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh37 Chromosome 6, 52343941: 52343941
20 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh38 Chromosome 6, 52479143: 52479143
21 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh37 Chromosome 6, 52355109: 52355109
22 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh38 Chromosome 6, 52490311: 52490311
23 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh37 Chromosome 6, 52357062: 52357062
24 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh38 Chromosome 6, 52492264: 52492264
25 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh37 Chromosome 6, 52285233: 52285233
26 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh38 Chromosome 6, 52420435: 52420435
27 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh37 Chromosome 6, 52319050: 52319050
28 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh38 Chromosome 6, 52454252: 52454252
29 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh37 Chromosome 6, 52288770: 52288770
30 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh38 Chromosome 6, 52423972: 52423972
31 EFHC1 NM_018100.3(EFHC1): c.887G> A (p.Arg296His) single nucleotide variant Conflicting interpretations of pathogenicity rs115205076 GRCh37 Chromosome 6, 52319056: 52319056
32 EFHC1 NM_018100.3(EFHC1): c.887G> A (p.Arg296His) single nucleotide variant Conflicting interpretations of pathogenicity rs115205076 GRCh38 Chromosome 6, 52454258: 52454258
33 EFHC1 NM_018100.3(EFHC1): c.64-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201860746 GRCh37 Chromosome 6, 52288739: 52288739
34 EFHC1 NM_018100.3(EFHC1): c.64-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201860746 GRCh38 Chromosome 6, 52423941: 52423941
35 EFHC1 NM_018100.3(EFHC1): c.210A> G (p.Pro70=) single nucleotide variant Benign rs145367062 GRCh37 Chromosome 6, 52288890: 52288890
36 EFHC1 NM_018100.3(EFHC1): c.210A> G (p.Pro70=) single nucleotide variant Benign rs145367062 GRCh38 Chromosome 6, 52424092: 52424092
37 EFHC1 NM_018100.3(EFHC1): c.1069G> A (p.Glu357Lys) single nucleotide variant Benign/Likely benign rs505760 GRCh37 Chromosome 6, 52329845: 52329845
38 EFHC1 NM_018100.3(EFHC1): c.1069G> A (p.Glu357Lys) single nucleotide variant Benign/Likely benign rs505760 GRCh38 Chromosome 6, 52465047: 52465047
39 EFHC1 NM_018100.3(EFHC1): c.1893C> T (p.Tyr631=) single nucleotide variant Benign rs35648306 GRCh37 Chromosome 6, 52357109: 52357109
40 EFHC1 NM_018100.3(EFHC1): c.1893C> T (p.Tyr631=) single nucleotide variant Benign rs35648306 GRCh38 Chromosome 6, 52492311: 52492311
41 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
42 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
43 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
44 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
45 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
46 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
47 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
48 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
49 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh38 Chromosome 6, 52423950: 52423950
50 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh37 Chromosome 6, 52288748: 52288748

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 ALDH5A1 GABRA1 GRIK1

GO Terms for Juvenile Absence Epilepsy

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.02 CACNA1H CLCN2 GABRA1 GJA8 GRIK1
2 chloride channel complex GO:0034707 8.96 CLCN2 GABRA1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.5 CACNA1H CLCN2 GJA8
2 regulation of ion transmembrane transport GO:0034765 9.43 CACNA1H CLCN2
3 central nervous system development GO:0007417 9.4 ALDH5A1 GRIK1
4 regulation of membrane potential GO:0042391 9.37 CACNA1H GABRA1
5 chloride transmembrane transport GO:1902476 9.26 CLCN2 GABRA1
6 ion transport GO:0006811 9.26 CACNA1H CLCN2 GABRA1 GRIK1
7 chloride transport GO:0006821 9.16 CLCN2 GABRA1
8 ion transmembrane transport GO:0034220 8.92 CACNA1H CLCN2 GABRA1 GRIK1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.96 GABRA1 GRIK1
2 chloride channel activity GO:0005254 8.62 CLCN2 GABRA1

Sources for Juvenile 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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