JAE
MCID: JVN007
MIFTS: 41

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 54 38 15
Epilepsy Juvenile Absence 77 54 30 6
Childhood Absence Epilepsy 54
Absence Epilepsy 74
Jae 54

Classifications:



Summaries for Juvenile Absence Epilepsy

NIH Rare Diseases : 54 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). The drugs Valproic Acid and Ethosuximide have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, 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.

Wikipedia : 77 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 41)
# Related Disease Score Top Affiliating Genes
1 childhood absence epilepsy 32.0 ALDH5A1 CACNA1H CLCN2 EFHC1 GJA8 GRIK1
2 epilepsy, idiopathic generalized 10 31.4 CLCN2 EFHC1 GJA8
3 epilepsy, idiopathic generalized 30.7 ALDH5A1 CACNA1H CLCN2 EFHC1
4 epilepsy 30.4 CACNA1H CLCN2 EFHC1
5 epilepsy, juvenile absence 1 12.2
6 epilepsy, idiopathic generalized 11 11.9
7 epilepsy, idiopathic generalized 13 11.2
8 epilepsy, childhood absence 6 11.2
9 glut1 deficiency syndrome 2 11.2
10 megaloblastic anemia due to dihydrofolate reductase deficiency 11.2
11 epilepsy, childhood absence 1 11.0
12 generalized epilepsy with febrile seizures plus, type 3 11.0
13 prostate cancer 10.2
14 horns in sheep 10.2
15 prostate cancer, hereditary, 8 10.2
16 prostate cancer, hereditary, 6 10.2
17 scoliosis 10.2
18 benign epilepsy with centrotemporal spikes 10.1
19 febrile seizures 10.1
20 caronte 10.0
21 wrinkles 10.0
22 celiac disease 1 9.9
23 amnestic disorder 9.9
24 transient global amnesia 9.9
25 epilepsy with generalized tonic-clonic seizures 9.9 CACNA1H EFHC1
26 attention deficit-hyperactivity disorder 9.8
27 aging 9.8
28 epilepsy, idiopathic generalized 7 9.8
29 anxiety 9.8
30 west syndrome 9.8
31 pol iii-related leukodystrophies 9.8
32 periventricular nodular heterotopia 9.8
33 focal epilepsy 9.8
34 dystonia 9.8
35 myoclonus epilepsy 9.8
36 depression 9.8
37 myoclonus 9.8
38 seizure disorder 9.8
39 familial hyperaldosteronism 9.7 CACNA1H CLCN2
40 childhood electroclinical syndrome 9.5 CACNA1H EFHC1 GJA8
41 adolescence-adult electroclinical syndrome 9.3 CACNA1H CLCN2 EFHC1 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:

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

UMLS symptoms related to Juvenile Absence Epilepsy:


seizures, absence seizures, absence attacks

MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 ALDH5A1 CACNA1H CLCN2 EFHC1 GRIK1
2 nervous system MP:0003631 9.02 ALDH5A1 CACNA1H CLCN2 EFHC1 GRIK1

Drugs & Therapeutics for Juvenile Absence Epilepsy

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
2
Ethosuximide Approved Phase 3 77-67-8 3291
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5 Antimanic Agents Phase 3
6 Central Nervous System Depressants Phase 3
7 Hormones Phase 3
8 Psychotropic Drugs Phase 3
9 Sodium Channel Blockers Phase 3
10 calcium channel blockers Phase 3
11 Neurotransmitter Agents Phase 3
12 Antipsychotic Agents Phase 3
13 Calcium, Dietary Phase 3
14 Diuretics, Potassium Sparing Phase 3
15 Anticonvulsants Phase 3,Phase 2,Not Applicable
16 GABA Agents Phase 3
17 Tranquilizing Agents Phase 3
18
Topiramate Approved Phase 2 97240-79-4 5284627
19
Levetiracetam Approved, Investigational Phase 2,Not Applicable 102767-28-2 441341
20 Hypoglycemic Agents Phase 2
21 Nootropic Agents Phase 2,Not Applicable
22 Epidiolex Phase 2
23 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 Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli Recruiting NCT03676543 Not Applicable
10 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Juvenile Absence Epilepsy

Genetic tests related to Juvenile Absence Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence 30

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

42
Brain, Eye

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.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
2 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
3 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
4 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
5 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
6 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
7 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
8 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
9 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh38 Chromosome 6, 52423950: 52423950
10 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh37 Chromosome 6, 52288748: 52288748
11 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh37 Chromosome 6, 52288777: 52288777
12 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh38 Chromosome 6, 52423979: 52423979
13 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh37 Chromosome 6, 52288831: 52288831
14 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh38 Chromosome 6, 52424033: 52424033
15 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh38 Chromosome 6, 52424148: 52424148
16 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh37 Chromosome 6, 52288946: 52288946
17 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh38 Chromosome 6, 52438565: 52438565
18 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh37 Chromosome 6, 52303363: 52303363
19 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh37 Chromosome 6, 52317573: 52317573
20 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh38 Chromosome 6, 52452775: 52452775
21 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh38 Chromosome 6, 52454102: 52454102
22 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh37 Chromosome 6, 52318900: 52318900
23 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh37 Chromosome 6, 52318986: 52318986
24 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh38 Chromosome 6, 52454188: 52454188
25 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh38 Chromosome 6, 52465035: 52465035
26 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh37 Chromosome 6, 52329833: 52329833
27 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh37 Chromosome 6, 52329890: 52329890
28 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh38 Chromosome 6, 52465092: 52465092
29 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh37 Chromosome 6, 52344502: 52344502
30 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh38 Chromosome 6, 52479704: 52479704
31 EFHC1 NM_018100.3(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 GRCh38 Chromosome 6, 52452761: 52452761
32 EFHC1 NM_018100.3(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 GRCh37 Chromosome 6, 52317559: 52317559
33 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh37 Chromosome 6, 52317597: 52317597
34 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh38 Chromosome 6, 52452799: 52452799
35 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh37 Chromosome 6, 52288909: 52288909
36 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh38 Chromosome 6, 52424111: 52424111
37 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh37 Chromosome 6, 52303336: 52303336
38 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh38 Chromosome 6, 52438538: 52438538
39 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh37 Chromosome 6, 52318945: 52318945
40 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh38 Chromosome 6, 52454147: 52454147
41 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh37 Chromosome 6, 52317574: 52317574
42 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh38 Chromosome 6, 52452776: 52452776
43 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh37 Chromosome 6, 52317541: 52317541
44 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh38 Chromosome 6, 52452743: 52452743
45 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh37 Chromosome 6, 52334148: 52334148
46 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh38 Chromosome 6, 52469350: 52469350
47 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh37 Chromosome 6, 52334217: 52334217
48 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh38 Chromosome 6, 52469419: 52469419
49 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh37 Chromosome 6, 52343899: 52343899
50 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh38 Chromosome 6, 52479101: 52479101

Expression for Juvenile Absence Epilepsy

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

Pathways for Juvenile Absence Epilepsy

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 8.92 CACNA1H CLCN2 GJA8 GRIK1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.33 CACNA1H CLCN2 GRIK1
2 regulation of ion transmembrane transport GO:0034765 9.32 CACNA1H CLCN2
3 central nervous system development GO:0007417 9.26 ALDH5A1 GRIK1
4 transmembrane transport GO:0055085 9.13 CACNA1H CLCN2 GJA8
5 ion transmembrane transport GO:0034220 8.8 CACNA1H CLCN2 GRIK1

Sources for Juvenile Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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