MCID: JVN007
MIFTS: 40

Juvenile Absence Epilepsy

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 epilepsy, idiopathic generalized 10 and epilepsy, idiopathic generalized, 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). The drugs Valproic Acid and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include prostate, 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 45)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 10 31.4 CLCN2 EFHC1 GJA8
2 epilepsy, idiopathic generalized 30.7 ALDH5A1 CACNA1H CLCN2 EFHC1
3 epilepsy 30.4 CACNA1H CLCN2 EFHC1
4 childhood absence epilepsy 27.9 ALDH5A1 CACNA1H CLCN2 EFHC1 GJA8 GRIK1
5 epilepsy, juvenile absence 1 12.2
6 epilepsy, idiopathic generalized 11 12.0
7 epilepsy, childhood absence 6 11.5
8 generalized epilepsy with febrile seizures plus, type 3 11.4
9 epilepsy, idiopathic generalized 13 11.2
10 glut1 deficiency syndrome 2 11.2
11 megaloblastic anemia due to dihydrofolate reductase deficiency 11.2
12 epilepsy, childhood absence 1 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 seizure disorder 10.0
21 carney complex, type 1 10.0
22 caronte 10.0
23 wrinkles 10.0
24 epilepsy, childhood absence 2 10.0
25 focal epilepsy 10.0
26 epilepsy with generalized tonic-clonic seizures 9.9 CACNA1H EFHC1
27 celiac disease 1 9.9
28 amnestic disorder 9.9
29 transient global amnesia 9.9
30 early myoclonic encephalopathy 9.9
31 attention deficit-hyperactivity disorder 9.8
32 aging 9.8
33 epilepsy, idiopathic generalized 7 9.8
34 anxiety 9.8
35 epilepsy, childhood absence 5 9.8
36 west syndrome 9.8
37 pol iii-related leukodystrophies 9.8
38 periventricular nodular heterotopia 9.8
39 dystonia 9.8
40 myoclonus epilepsy 9.8
41 depression 9.8
42 myoclonus 9.8
43 familial hyperaldosteronism 9.7 CACNA1H CLCN2
44 childhood electroclinical syndrome 9.5 CACNA1H EFHC1 GJA8
45 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 absence seizure 33 occasional (7.5%) HP:0002121
6 febrile seizures 33 occasional (7.5%) HP:0002373
7 myoclonus 33 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:

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
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Ethosuximide Approved Phase 3 77-67-8 3291
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5 Tranquilizing Agents Phase 3
6 Sodium Channel Blockers Phase 3
7 Calcium, Dietary Phase 3
8 Diuretics, Potassium Sparing Phase 3
9 GABA Agents Phase 3
10 Neurotransmitter Agents Phase 3
11 Hormones Phase 3
12 Antimanic Agents Phase 3
13 Psychotropic Drugs Phase 3
14 Central Nervous System Depressants Phase 3
15 calcium channel blockers Phase 3
16 Anticonvulsants Phase 3,Phase 2,Not Applicable
17 Antipsychotic 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 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 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 EFHC1

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

42
Prostate, Brain, Eye

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show all 22)
# Title Authors Year
1
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. ( 30530409 )
2018
2
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
3
Seizure outcome in patients with juvenile absence epilepsy. ( 26531750 )
2016
4
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. ( 27551668 )
2016
5
Celiac Disease and Juvenile Absence Epilepsy. ( 26626904 )
2015
6
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. ( 24684814 )
2014
7
Zonisamide for refractory juvenile absence epilepsy. ( 24907183 )
2014
8
Temporal intermittent δ activity: a marker of juvenile absence epilepsy? ( 21044851 )
2011
9
Long term prognosis of juvenile absence epilepsy. ( 21163225 )
2011
10
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
11
The double generalization phenomenon in juvenile absence epilepsy. ( 21571594 )
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
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ( 20298421 )
2010
15
Juvenile absence epilepsy exacerbated by valproic acid. ( 17275666 )
2007
16
Outcome of children with juvenile absence epilepsy. ( 16970883 )
2006
17
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. ( 17159113 )
2006
18
Long-term prognosis for childhood and juvenile absence epilepsy. ( 15503104 )
2004
19
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
20
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. ( 11920863 )
2002
21
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. ( 9259378 )
1997
22
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 162)
# 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

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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