MCID: EPL133
MIFTS: 31

Epilepsy, Juvenile Absence 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Juvenile Absence 1

MalaCards integrated aliases for Epilepsy, Juvenile Absence 1:

Name: Epilepsy, Juvenile Absence 1 53
Epilepsy, Juvenile Absence, Susceptibility to, 1 53 13
Eja1 53 71
Jae1 53 71
Susceptibility to Juvenile Absence Epilepsy 1 71
Juvenile Absence Epilepsy 1 71
Juvenile Absence Epilepsy 55
Absence Epilepsy 69
Jae 55

Characteristics:

Orphanet epidemiological data:

55
juvenile absence epilepsy
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset around puberty


HPO:

31
epilepsy, juvenile absence 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 607631
Orphanet 55 ORPHA1941
MESH via Orphanet 42 C535495
UMLS via Orphanet 70 C2930918
ICD10 via Orphanet 33 G40.3
MeSH 41 D004832

Summaries for Epilepsy, Juvenile Absence 1

UniProtKB/Swiss-Prot : 71 Juvenile absence epilepsy 1: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.

MalaCards based summary : Epilepsy, Juvenile Absence 1, also known as epilepsy, juvenile absence, susceptibility to, 1, is related to juvenile absence epilepsy and epilepsy, idiopathic generalized 11, and has symptoms including absence seizures, myoclonus and abnormality of eye movement. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain Containing 1). Affiliated tissues include eye.

Description from OMIM: 607631

Related Diseases for Epilepsy, Juvenile Absence 1

Diseases in the Juvenile Absence Epilepsy family:

Epilepsy, Juvenile Absence 1 Early Onset Absence Epilepsy

Diseases related to Epilepsy, Juvenile Absence 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 12.3
2 epilepsy, idiopathic generalized 11 11.8
3 epilepsy, idiopathic generalized 11.0
4 epilepsy, idiopathic generalized 10 11.0
5 epilepsy 10.4
6 celiac disease 1 9.7
7 succinic semialdehyde dehydrogenase deficiency 9.7

Graphical network of the top 20 diseases related to Epilepsy, Juvenile Absence 1:



Diseases related to Epilepsy, Juvenile Absence 1

Symptoms & Phenotypes for Epilepsy, Juvenile Absence 1

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
absence seizures
generalized tonic-clonic seizures (gtcs)
gtcs on awakening
myoclonic seizures
eeg shows 3-4-hz spike waves


Clinical features from OMIM:

607631

Human phenotypes related to Epilepsy, Juvenile Absence 1:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absence seizures 55 31 Occasional (29-5%) HP:0002121
2 myoclonus 55 Very rare (<4-1%)
3 abnormality of eye movement 55 Frequent (79-30%)
4 generalized myoclonic seizures 31 HP:0002123
5 generalized tonic-clonic seizures 55 Very frequent (99-80%)
6 generalized seizures 55 Very frequent (99-80%)
7 eeg with polyspike wave complexes 55 Very frequent (99-80%)
8 abnormality of the mouth 55 Frequent (79-30%)
9 febrile seizures 55 Occasional (29-5%)
10 eeg with spike-wave complexes (>3.5 hz) 31 HP:0010849
11 generalized tonic-clonic seizures on awakening 31 HP:0007193

UMLS symptoms related to Epilepsy, Juvenile Absence 1:


absence seizures, absence attacks, seizures

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

Search Clinical Trials , NIH Clinical Center for Epilepsy, Juvenile Absence 1

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


Genetic Tests for Epilepsy, Juvenile Absence 1

Anatomical Context for Epilepsy, Juvenile Absence 1

MalaCards organs/tissues related to Epilepsy, Juvenile Absence 1:

38
Eye

Publications for Epilepsy, Juvenile Absence 1

Articles related to Epilepsy, Juvenile Absence 1:

(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 Epilepsy, Juvenile Absence 1

ClinVar genetic disease variations for Epilepsy, Juvenile Absence 1:

6
# 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.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh37 Chromosome 6, 52303336: 52303336
3 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh37 Chromosome 6, 52318945: 52318945

Expression for Epilepsy, Juvenile Absence 1

Search GEO for disease gene expression data for Epilepsy, Juvenile Absence 1.

Pathways for Epilepsy, Juvenile Absence 1

GO Terms for Epilepsy, Juvenile Absence 1

Sources for Epilepsy, Juvenile Absence 1

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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