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 53 37 15
Epilepsy Juvenile Absence 75 53 29 6
Childhood Absence Epilepsy 53
Absence Epilepsy 72
Jae 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0060172
KEGG 37 H02216
UMLS 72 C0014553

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: 1941DefinitionJuvenile 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), and among its related pathways/superpathways is Transmission across Chemical Synapses. 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 generalized tonic-clonic seizures and eeg with polyspike wave complexes

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

KEGG : 37
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 : 75 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 64)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 10 30.3 GJA8 GABRA1 EFHC1 CLCN2
2 epilepsy, idiopathic generalized 29.9 GABRA1 EFHC1 CLCN2 CACNA1H ALDH5A1
3 epilepsy 29.0 GABRA1 EFHC1 CLCN2 CACNA1H
4 childhood absence epilepsy 26.5 GRIK1 GJA8 GABRA1 EFHC1 CLCN2 CACNA1H
5 epilepsy, juvenile absence 1 12.4
6 epilepsy, idiopathic generalized 11 12.1
7 febrile seizures, familial, 8 11.6
8 epilepsy, childhood absence 6 11.6
9 epilepsy, childhood absence 1 11.5
10 epilepsy, idiopathic generalized 13 11.3
11 glut1 deficiency syndrome 2 11.3
12 megaloblastic anemia due to dihydrofolate reductase deficiency 11.3
13 febrile seizures 10.4
14 scoliosis 10.3
15 low compliance bladder 10.3
16 rare surgical neurologic disease 10.3
17 benign epilepsy with centrotemporal spikes 10.2
18 immunoglobulin e concentration, serum 10.2
19 visual epilepsy 10.2
20 seizure disorder 10.2
21 attention deficit-hyperactivity disorder 10.1
22 status epilepticus 10.1
23 early myoclonic encephalopathy 10.1
24 anxiety 10.0
25 epilepsy, myoclonic juvenile 10.0
26 focal epilepsy 10.0
27 myoclonus 10.0
28 epilepsy, childhood absence 5 10.0
29 early onset absence epilepsy 10.0
30 generalized epilepsy with febrile seizures plus 10.0
31 celiac disease 1 9.9
32 amnestic disorder 9.9
33 transient global amnesia 9.9
34 angelman syndrome 9.8
35 centralopathic epilepsy 9.8
36 migraine with or without aura 1 9.8
37 alacrima, achalasia, and mental retardation syndrome 9.8
38 west syndrome 9.8
39 periventricular nodular heterotopia 9.8
40 exanthem 9.8
41 hemiplegia 9.8
42 temporal lobe epilepsy 9.8
43 movement disease 9.8
44 dystonia 9.8
45 placenta disease 9.8
46 47,xyy 9.8
47 bap1 tumor predisposition syndrome 9.8
48 clcn2-related leukoencephalopathy 9.8
49 glucose transporter type 1 deficiency syndrome 9.8
50 48,xyyy 9.8

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



Diseases related to Juvenile Absence Epilepsy

Symptoms & Phenotypes for Juvenile Absence Epilepsy

Human phenotypes related to Juvenile Absence Epilepsy:

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

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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
3
Ethosuximide Approved Phase 3 77-67-8 3291
4 Neurotransmitter Agents Phase 3
5 Psychotropic Drugs Phase 3
6 Central Nervous System Depressants Phase 3
7 GABA Agents Phase 3
8 Sodium Channel Blockers Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Tranquilizing Agents Phase 3
11 Antimanic Agents Phase 3
12 Antipsychotic Agents Phase 3
13
Levetiracetam Approved, Investigational Phase 2 102767-28-2 441341
14
Topiramate Approved Phase 2 97240-79-4 5284627
15
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
16 Nootropic Agents Phase 2
17 Hypoglycemic Agents Phase 2
18 Anticonvulsants Phase 2
19 Epidiolex Phase 2
20 Pharmaceutical Solutions Phase 2
21 Hormones Phase 2
22 calcium channel blockers Phase 2
23 Calcium, Dietary Phase 2
24
Dopamine Approved 51-61-6, 62-31-7 681
25
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
26 Sympathomimetics
27 Cardiotonic Agents
28 Gastrointestinal Agents
29 Dopamine Agents
30 Peripheral Nervous System Agents
31 Dopamine agonists
32 Protective Agents
33 Autonomic Agents
34 Emetics

Interventional clinical trials:

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

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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

Genetic Tests for Juvenile Absence Epilepsy

Genetic tests related to Juvenile Absence Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence 29 EFHC1

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

41
Eye, Brain, Testes, Temporal Lobe

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show top 50) (show all 159)
# Title Authors PMID Year
1
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. 38
31435640 2019
2
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. 38
30530409 2018
3
Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study. 38
30062784 2018
4
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. 38
29898971 2018
5
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. 38
30254527 2018
6
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. 38
29807291 2018
7
Source analysis of epileptiform discharges in absence epilepsy using Magnetoencephalography (MEG). 38
29232569 2018
8
Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. 38
29465899 2018
9
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 38
29924869 2018
10
Long-term outcome in adolescent-onset generalized genetic epilepsies. 38
28464258 2017
11
Can EEG Differentiate Among Syndromes in Genetic Generalized Epilepsy? 38
27763964 2017
12
Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. 38
28324682 2017
13
Lacosamide for refractory generalized tonic-clonic seizures of non-focal origin in clinical practice: A clinical and VEEG study. 38
28948142 2017
14
[Classification of idiopathic generalised epilepsies in patients over 16 years of age]. 38
28074997 2017
15
[Pathomorphosis of idiopathic generalized epilepsy. Juvenile forms]. 38
29213036 2017
16
Impaired consciousness in patients with absence seizures investigated by functional MRI, EEG, and behavioural measures: a cross-sectional study. 38
27839650 2016
17
Role for serotonin2A (5-HT2A) and 2C (5-HT2C) receptors in experimental absence seizures. 38
27085605 2016
18
Analysis of rare copy number variation in absence epilepsies. 38
27123475 2016
19
Epileptiform K-Complexes and Sleep Spindles: An Underreported Phenomenon in Genetic Generalized Epilepsy. 38
26587665 2016
20
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature. 38
25420625 2016
21
Seizure outcome in patients with juvenile absence epilepsy. 38
26531750 2016
22
Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. 38
26712538 2016
23
[Anticonvulsive Therapy after the First Unprovoked Seizure – Pros and Cons]. 38
26732716 2016
24
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. 38
27551668 2016
25
Celiac Disease and Juvenile Absence Epilepsy. 38
26626904 2015
26
Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy. 38
25542253 2015
27
Investigation of GRIN2A in common epilepsy phenotypes. 38
26220384 2015
28
Focal seizure symptoms in idiopathic generalized epilepsies. 38
26187225 2015
29
Treatment of pediatric epilepsy in Poland. 38
25682573 2015
30
Seizure and Psychosocial Outcomes of Childhood and Juvenile Onset Generalized Epilepsies: Wolf in Sheep's Clothing, or Well-Dressed Wolf? 38
26316843 2015
31
Clinical genetic study in juvenile myoclonic epilepsy. 38
25108570 2014
32
Zonisamide for refractory juvenile absence epilepsy. 38
24907183 2014
33
Calcium channel antibodies in patients with absence epilepsy. 38
24147594 2014
34
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. 38
24684814 2014
35
Low-dose sodium valproate in the treatment of idiopathic generalized epilepsies. 38
24372179 2014
36
Altered thalamocortical functional connectivity in idiopathic generalized epilepsy. 38
24650142 2014
37
[Antiepileptic drugs and seizure aggravation]. 38
25591652 2014
38
Generalized spike and waves: effect of discharge duration on brain networks as revealed by BOLD fMRI. 38
23990340 2014
39
Seizures from valproate-carbapenem interaction. 38
23932807 2013
40
Absence status seen in an adult patient. 38
24250182 2013
41
Patterns of cortical hyperexcitability in adolescent/adult-onset generalized epilepsies. 38
23551088 2013
42
Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India. 38
23956556 2013
43
Idiopathic generalized epilepsies. 38
23622205 2013
44
A clinical study of syndromes of idiopathic (genetic) generalized epilepsy. 38
23149265 2013
45
[A paradoxical reaction on valproates in a female patient with juvenile absence epilepsy]. 38
23739458 2013
46
The prognosis of idiopathic generalized epilepsy. 38
23106474 2012
47
Prevalence and characteristics of visual aura in idiopathic generalized epilepsy. 38
23159381 2012
48
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies. 38
22206818 2012
49
The classification and differential diagnosis of absence seizures with short-term video-EEG monitoring during childhood. 38
22397035 2012
50
[Complex therapy of idiopathic forms of epilepsy with small doses of valproates and levetiracetam]. 38
22983238 2012

Variations for Juvenile Absence Epilepsy

ClinVar genetic disease variations for Juvenile Absence Epilepsy:

6 (show top 50) (show all 107)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EFHC1 NM_018100.4(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 6:52303336-52303336 6:52438538-52438538
2 EFHC1 NM_018100.4(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 6:52318945-52318945 6:52454147-52454147
3 EFHC1 NM_018100.4(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 6:52317574-52317574 6:52452776-52452776
4 EFHC1 NM_018100.4(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 6:52317541-52317541 6:52452743-52452743
5 EFHC1 NM_018100.4(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs137852776 6:52317597-52317597 6:52452799-52452799
6 EFHC1 NM_018100.4(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 6:52288909-52288909 6:52424111-52424111
7 EFHC1 NM_018100.4(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 6:52355109-52355109 6:52490311-52490311
8 EFHC1 NM_018100.4(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 6:52357062-52357062 6:52492264-52492264
9 EFHC1 NM_018100.4(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 6:52288770-52288770 6:52423972-52423972
10 EFHC1 NM_018100.4(EFHC1): c.887G> A (p.Arg296His) single nucleotide variant Conflicting interpretations of pathogenicity rs115205076 6:52319056-52319056 6:52454258-52454258
11 EFHC1 NM_018100.4(EFHC1): c.64-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201860746 6:52288739-52288739 6:52423941-52423941
12 EFHC1 NM_018100.4(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 6:52354972-52354972 6:52490174-52490174
13 EFHC1 NM_018100.4(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 6:52303363-52303363 6:52438565-52438565
14 EFHC1 NM_018100.4(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 6:52317573-52317573 6:52452775-52452775
15 EFHC1 NM_018100.4(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 6:52344502-52344502 6:52479704-52479704
16 EFHC1 NM_018100.4(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 6:52329890-52329890 6:52465092-52465092
17 EFHC1 NM_018100.4(EFHC1): c.1370G> T (p.Arg457Leu) single nucleotide variant Uncertain significance rs369468811 6:52343926-52343926 6:52479128-52479128
18 EFHC1 NM_018100.4(EFHC1): c.1892A> G (p.Tyr631Cys) single nucleotide variant Uncertain significance rs574948354 6:52357108-52357108 6:52492310-52492310
19 EFHC1 NM_018100.4(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 6:52317559-52317559 6:52452761-52452761
20 EFHC1 NM_018100.4(EFHC1): c.1280A> G (p.Glu427Gly) single nucleotide variant Uncertain significance rs756563341 6:52343836-52343836 6:52479038-52479038
21 EFHC1 NM_018100.4(EFHC1): c.564A> G (p.Gln188=) single nucleotide variant Uncertain significance rs766444850 6:52303380-52303380 6:52438582-52438582
22 EFHC1 NM_018100.4(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 6:52318900-52318900 6:52454102-52454102
23 EFHC1 NM_018100.4(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 6:52318986-52318986 6:52454188-52454188
24 EFHC1 NM_018100.4(EFHC1): c.911A> G (p.Asn304Ser) single nucleotide variant Uncertain significance rs142107827 6:52319080-52319080 6:52454282-52454282
25 EFHC1 NM_018100.4(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 6:52329833-52329833 6:52465035-52465035
26 EFHC1 NM_018100.4(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 6:52319085-52319085 6:52454287-52454287
27 EFHC1 NM_018100.4(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 6:52343862-52343862 6:52479064-52479064
28 EFHC1 NM_018100.4(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 6:52288748-52288748 6:52423950-52423950
29 EFHC1 NM_018100.4(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 6:52288777-52288777 6:52423979-52423979
30 EFHC1 NM_018100.4(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 6:52288831-52288831 6:52424033-52424033
31 EFHC1 NM_018100.4(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 6:52288946-52288946 6:52424148-52424148
32 EFHC1 NM_018100.4(EFHC1): c.344A> G (p.Tyr115Cys) single nucleotide variant Uncertain significance rs371610025 6:52303160-52303160 6:52438362-52438362
33 EFHC1 NM_018100.4(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 6:52343941-52343941 6:52479143-52479143
34 EFHC1 NM_018100.4(EFHC1): c.1147C> T (p.Pro383Ser) single nucleotide variant Uncertain significance rs546262142 6:52334140-52334140 6:52469342-52469342
35 EFHC1 NM_018100.4(EFHC1): c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) indel Uncertain significance rs1554261668 6:52344494-52344504 6:52479696-52479706
36 EFHC1 NM_018100.4(EFHC1): c.187G> A (p.Asp63Asn) single nucleotide variant Uncertain significance rs750083920 6:52288867-52288867 6:52424069-52424069
37 EFHC1 NM_018100.4(EFHC1): c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) indel Uncertain significance rs1554259746 6:52317578-52317586 6:52452780-52452788
38 EFHC1 NM_018100.4(EFHC1): c.1641-6C> G single nucleotide variant Uncertain significance rs1554262183 6:52354932-52354932 6:52490134-52490134
39 EFHC1 NM_018100.4(EFHC1): c.1665C> T (p.Gly555=) single nucleotide variant Uncertain significance rs369201702 6:52354962-52354962 6:52490164-52490164
40 EFHC1 NM_018100.4(EFHC1): c.544C> T (p.Arg182Cys) single nucleotide variant Uncertain significance rs200191497 6:52303360-52303360 6:52438562-52438562
41 EFHC1 NM_018100.4(EFHC1): c.1221dup (p.Asp408fs) duplication Uncertain significance rs754483740 6:52334214-52334214 6:52469416-52469416
42 EFHC1 NM_018100.4(EFHC1): c.1586C> A (p.Ala529Glu) single nucleotide variant Uncertain significance rs759944784 6:52344531-52344531 6:52479733-52479733
43 EFHC1 NM_018100.4(EFHC1): c.682_692del (p.Asp228fs) deletion Uncertain significance rs775980459 6:52317594-52317604 6:52452796-52452806
44 EFHC1 NM_018100.4(EFHC1): c.125G> A (p.Arg42His) single nucleotide variant Uncertain significance rs773598517 6:52288805-52288805 6:52424007-52424007
45 EFHC1 NM_018100.4(EFHC1): c.1369C> T (p.Arg457Cys) single nucleotide variant Uncertain significance rs373196171 6:52343925-52343925 6:52479127-52479127
46 EFHC1 NM_018100.4(EFHC1): c.1841_1851+13del deletion Uncertain significance rs775583843 6:52355138-52355161 6:52490340-52490363
47 EFHC1 NM_018100.4(EFHC1): c.915A> G (p.Ala305=) single nucleotide variant Uncertain significance rs1060503381 6:52319084-52319084 6:52454286-52454286
48 EFHC1 NM_018100.4(EFHC1): c.1739G> C (p.Arg580Pro) single nucleotide variant Uncertain significance rs752701116 6:52355036-52355036 6:52490238-52490238
49 EFHC1 NM_018100.4(EFHC1): c.40G> A (p.Gly14Ser) single nucleotide variant Uncertain significance rs1554257650 6:52285248-52285248 6:52420450-52420450
50 EFHC1 NM_018100.4(EFHC1): c.1492+1G> A single nucleotide variant Uncertain significance rs191404037 6:52344049-52344049 6:52479251-52479251

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 GRIK1 GABRA1 ALDH5A1

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 GRIK1 GJA8 GABRA1 CLCN2 CACNA1H
2 chloride channel complex GO:0034707 8.96 GABRA1 CLCN2

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

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 GRIK1 GABRA1
2 chloride channel activity GO:0005254 8.62 GABRA1 CLCN2

Sources for Juvenile Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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