MCID: JVN007
MIFTS: 42

Juvenile Absence Epilepsy

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Juvenile Absence Epilepsy

MalaCards integrated aliases for Juvenile Absence Epilepsy:

Name: Juvenile Absence Epilepsy 12 49 14
Epilepsy Juvenile Absence 72 49 28
Childhood Absence Epilepsy 49
Absence Epilepsy 69
Jae 49

Classifications:



Summaries for Juvenile Absence Epilepsy

NIH Rare Diseases : 49 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. Last updated: 11/2/2015

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 abnormality of the mouth, abnormality of eye movement and myoclonus. An important gene associated with Juvenile Absence Epilepsy is EFHC1 (EF-Hand Domain Containing 1). The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are behavior/neurological and muscle

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 : 72 Absence seizures are one of several kinds of seizures. These seizures are sometimes referred to as petit... more...

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormality of the mouth 31 frequent (33%) HP:0000153
2 abnormality of eye movement 31 frequent (33%) HP:0000496
3 myoclonus 31 very rare (1%) HP:0001336
4 generalized tonic-clonic seizures 31 hallmark (90%) HP:0002069
5 absence seizures 31 occasional (7.5%) HP:0002121
6 febrile seizures 31 occasional (7.5%) HP:0002373
7 eeg with polyspike wave complexes 31 hallmark (90%) HP:0002392

UMLS symptoms related to Juvenile Absence Epilepsy:


absence seizures, absence attacks, seizures

MGI Mouse Phenotypes related to Juvenile Absence Epilepsy:

43
# 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 Anticonvulsants Phase 3,Phase 2
5 Antimanic Agents Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Central Nervous System Depressants Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Excitatory Amino Acid Antagonists Phase 3
11 Excitatory Amino Acids Phase 3
12 GABA Agents Phase 3
13 Neurotransmitter Agents Phase 3
14 Psychotropic Drugs Phase 3
15 Sodium Channel Blockers Phase 3
16 Tranquilizing Agents Phase 3
17
Topiramate Approved Phase 2 97240-79-4 5284627
18 Piracetam Approved, Investigational Phase 2 7491-74-9
19 Etiracetam Investigational Phase 2 33996-58-6
20 Anti-Obesity Agents Phase 2
21 Neuroprotective Agents Phase 2
22 Protective Agents Phase 2
23 Nootropic Agents Phase 2
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 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

Search NIH Clinical Center for Juvenile Absence Epilepsy

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Juvenile Absence Epilepsy

Genetic tests related to Juvenile Absence Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy Juvenile Absence 28 EFHC1

Anatomical Context for Juvenile Absence Epilepsy

MalaCards organs/tissues related to Juvenile Absence Epilepsy:

38
Brain, Eye

Publications for Juvenile Absence Epilepsy

Articles related to Juvenile Absence Epilepsy:

(show all 18)
# 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
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. ( 24684814 )
2014
5
Zonisamide for refractory juvenile absence epilepsy. ( 24907183 )
2014
6
The double generalization phenomenon in juvenile absence epilepsy. ( 21571594 )
2011
7
Long term prognosis of juvenile absence epilepsy. ( 21163225 )
2011
8
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
9
Temporal intermittent I' activity: a marker of juvenile absence epilepsy? ( 21044851 )
2011
10
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. ( 19616977 )
2010
11
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. ( 20061122 )
2010
12
Juvenile absence epilepsy exacerbated by valproic acid. ( 17275666 )
2007
13
Outcome of children with juvenile absence epilepsy. ( 16970883 )
2006
14
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
15
Long-term prognosis for childhood and juvenile absence epilepsy. ( 15503104 )
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:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.26 CACNA1H GABRA1 GJA8 GRIK1
2 chloride channel complex GO:0034707 8.62 CLCN2 GABRA1

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

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.65 CACNA1H CLCN2 GABRA1 GJA8 GRIK1
2 ion transport GO:0006811 9.46 CACNA1H CLCN2 GABRA1 GRIK1
3 central nervous system development GO:0007417 9.43 ALDH5A1 GRIK1
4 chloride transmembrane transport GO:1902476 9.4 CLCN2 GABRA1
5 chloride transport GO:0006821 9.37 CLCN2 GABRA1
6 regulation of postsynaptic membrane potential GO:0060078 9.32 CACNA1H GABRA1
7 ion transmembrane transport GO:0034220 9.26 CACNA1H CLCN2 GABRA1 GRIK1
8 transmembrane transport GO:0055085 9.02 CACNA1H CLCN2 GABRA1 GJA8 GRIK1

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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