JAE
MCID: JVN007
MIFTS: 40

Juvenile Absence Epilepsy (JAE) malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Juvenile Absence Epilepsy

Aliases & Descriptions for Juvenile Absence Epilepsy:

Name: Juvenile Absence Epilepsy 12 50 14
Epilepsy Juvenile Absence 50 29
Childhood Absence Epilepsy 50
Absence Epilepsy 69
Jae 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0060172

Summaries for Juvenile Absence Epilepsy

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.

MalaCards based summary : Juvenile Absence Epilepsy, also known as epilepsy juvenile absence, is related to epilepsy, generalized, with febrile seizures plus, type 5 and childhood absence epilepsy, and has symptoms including myoclonus, abnormality of eye movement and generalized tonic-clonic seizures. An important gene associated with Juvenile Absence Epilepsy is CLCN2 (Chloride Voltage-Gated Channel 2). The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are behavior/neurological and muscle

Related Diseases for Juvenile Absence Epilepsy

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)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 abnormality of eye movement 32 HP:0000496
3 generalized tonic-clonic seizures 32 HP:0002069
4 eeg with polyspike wave complexes 32 HP:0002392
5 abnormality of the mouth 32 HP:0000153
6 absence seizures 32 HP:0002121
7 febrile seizures 32 HP:0002373

UMLS symptoms related to Juvenile Absence Epilepsy:


seizures, absence attacks

MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

44
id 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 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethosuximide Approved Phase 3 77-67-8 3291
2
Lamotrigine Approved, Investigational Phase 3,Phase 1 84057-84-1 3878
3
Valproic Acid Approved, Investigational Phase 3,Phase 1 99-66-1 3121
4
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
5 Anticonvulsants Phase 3,Phase 2,Phase 1
6 Antimanic Agents Phase 3,Phase 1
7 calcium channel blockers Phase 3,Phase 2,Phase 1
8 Calcium, Dietary Phase 3,Phase 2,Phase 1
9 Central Nervous System Depressants Phase 3,Phase 1
10 Diuretics, Potassium Sparing Phase 3,Phase 1
11 Excitatory Amino Acid Antagonists Phase 3,Phase 1
12 Excitatory Amino Acids Phase 3,Phase 1
13 GABA Agents Phase 3,Phase 1
14 Neurotransmitter Agents Phase 3,Phase 1
15 Psychotropic Drugs Phase 3,Phase 1
16 Sodium Channel Blockers Phase 3,Phase 1
17 Tranquilizing Agents Phase 3,Phase 1
18 Pharmaceutical Solutions Phase 3,Phase 2
19 Piracetam Approved Phase 2 7491-74-9
20
Topiramate Approved Phase 2 97240-79-4 5284627
21
Verapamil Approved Phase 2 52-53-9 2520
22
Glycerol Approved, Experimental Phase 2 56-81-5 753
23 Etiracetam Phase 2
24 Neuroprotective Agents Phase 2
25 Nootropic Agents Phase 2
26 Protective Agents Phase 2
27 Anti-Obesity Agents Phase 2
28 Anti-Arrhythmia Agents Phase 2
29 Vasodilator Agents Phase 2
30
Menthol Approved 2216-51-5 16666
31 Convulsants

Interventional clinical trials:

(show all 23)
id Name Status NCT ID Phase
1 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study Completed NCT00088452 Phase 3
2 Clinical Study of Lamotrigine to Treat Newly Diagnosed Typical Absence Seizure in Children and Adolescents Completed NCT01431976 Phase 3
3 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3
4 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3
5 A Safety and Efficacy Follow-up Study With Levetiracetam in Children (4-17 Years Old) Suffering From Absence Seizures Completed NCT00545012 Phase 2
6 A Pilot Study of Topiramate in Childhood Absence Epilepsy Completed NCT00210574 Phase 2
7 Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118949 Phase 2
8 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2
9 Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118962 Phase 2
10 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2
11 LAMICTAL (Lamotrigine) For The Treatment Of Absence Seizures Completed NCT00144872 Phase 1
12 Molecular Signature of Valproic Acid in Breast Cancer With Functional Imaging Assessment - a Pilot Terminated NCT01007695 Phase 1
13 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589
14 Why Are Patients With Absence Seizures Absent? A Brain Imaging Study Completed NCT00393666
15 A Pilot Study of Efficacy and Tolerability of Levetiracetam Monotherapy in Subjects With Childhood Absence Epilepsy Completed NCT00361010
16 Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study Completed NCT00041951
17 Magnetoencephalography in Absence Seizures Completed NCT00884351
18 Functional Magnetic Resonance Imaging (fMRI) Study of Memory in Children Completed NCT00242905
19 Transcutaneous Non-invasive Stimulation of the Vagus Nerve for the Treatment of Difficult-to-treat Epilepsy Completed NCT01178437
20 Concomitant High-resolution Recording of Haemodynamic and Electrical Activities of Children With Typical or Atypical Absence Seizures Recruiting NCT02819427
21 Longitudinal Early Epilepsy Study Recruiting NCT02954107
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Does Body Positioning Affect the Yield of Hyperventilation in Routine Pediatric Electroencephalography - EEG Studies? Not yet recruiting NCT02766595

Search NIH Clinical Center for Juvenile Absence Epilepsy

Genetic Tests for Juvenile Absence Epilepsy

Genetic tests related to Juvenile Absence Epilepsy:

id Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence 29

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

39
Eye, Brain

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show all 18)
id Title Authors Year
1
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. ( 27551668 )
2016
2
Celiac Disease and Juvenile Absence Epilepsy. ( 26626904 )
2015
3
Seizure outcome in patients with juvenile absence epilepsy. ( 26531750 )
2015
4
Zonisamide for refractory juvenile absence epilepsy. ( 24907183 )
2014
5
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. ( 24684814 )
2014
6
Temporal intermittent I' activity: a marker of juvenile absence epilepsy? ( 21044851 )
2011
7
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
8
The double generalization phenomenon in juvenile absence epilepsy. ( 21571594 )
2011
9
Long term prognosis of juvenile absence epilepsy. ( 21163225 )
2011
10
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. ( 20061122 )
2010
11
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. ( 19616977 )
2010
12
Juvenile absence epilepsy exacerbated by valproic acid. ( 17275666 )
2007
13
Outcome of children with juvenile absence epilepsy. ( 16970883 )
2006
14
Long-term prognosis for childhood and juvenile absence epilepsy. ( 15503104 )
2004
15
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
16
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. ( 11920863 )
2002
17
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. ( 9259378 )
1997
18
Clinical and genetic aspects of juvenile absence epilepsy. ( 7964917 )
1994

Variations for Juvenile Absence Epilepsy

Expression for Juvenile Absence Epilepsy

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

Pathways for Juvenile Absence Epilepsy

GO Terms for Juvenile Absence Epilepsy

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 8.62 CLCN2 GABRA1

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.61 CACNA1H CLCN2 GJA8
2 transport GO:0006810 9.55 CACNA1H CLCN2 GABRA1 GJA8 GRIK1
3 central nervous system development GO:0007417 9.46 ALDH5A1 GRIK1
4 chloride transmembrane transport GO:1902476 9.4 CLCN2 GABRA1
5 chloride transport GO:0006821 9.37 CLCN2 GABRA1
6 sodium ion transmembrane transport GO:0035725 9.32 CACNA1H GRIK1
7 regulation of postsynaptic membrane potential GO:0060078 9.26 CACNA1H GABRA1
8 ion transport GO:0006811 9.26 CACNA1H CLCN2 GABRA1 GRIK1
9 ion transmembrane transport GO:0034220 8.92 CACNA1H CLCN2 GABRA1 GRIK1

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.16 CACNA1H CLCN2
2 ion channel activity GO:0005216 8.96 GABRA1 GRIK1
3 chloride channel activity GO:0005254 8.62 CLCN2 GABRA1

Sources for Juvenile Absence Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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