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 57
Epilepsy, Juvenile Absence, Susceptibility to, 1 57 13
Eja1 57 75
Jae1 57 75
Epilepsy, Juvenile Absence, Susceptibility to, Type 1 40
Susceptibility to Juvenile Absence Epilepsy 1 75
Juvenile Absence Epilepsy 1 75
Juvenile Absence Epilepsy 59
Absence Epilepsy 73
Jae 59

Characteristics:

Orphanet epidemiological data:

59
juvenile absence epilepsy
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset around puberty


HPO:

32
epilepsy, juvenile absence 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607631
Orphanet 59 ORPHA1941
MESH via Orphanet 45 C535495
UMLS via Orphanet 74 C2930918
ICD10 via Orphanet 34 G40.3
MeSH 44 D004832

Summaries for Epilepsy, Juvenile Absence 1

UniProtKB/Swiss-Prot : 75 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 seizures, absence attacks and absence seizures. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain Containing 1). Affiliated tissues include eye and brain, and related phenotypes are absence seizures and generalized tonic-clonic seizures

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 12.4
2 epilepsy, idiopathic generalized 11 11.8
3 epilepsy, idiopathic generalized 10 11.3
4 epilepsy, idiopathic generalized 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:

57
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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absence seizures 59 32 Occasional (29-5%) HP:0002121
2 generalized tonic-clonic seizures 59 Very frequent (99-80%)
3 generalized seizures 59 Very frequent (99-80%)
4 eeg with polyspike wave complexes 59 Very frequent (99-80%)
5 abnormality of the mouth 59 Frequent (79-30%)
6 abnormality of eye movement 59 Frequent (79-30%)
7 febrile seizures 59 Occasional (29-5%)
8 myoclonus 59 Very rare (<4-1%)
9 generalized myoclonic seizures 32 HP:0002123
10 generalized tonic-clonic seizures on awakening 32 HP:0007193
11 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849

UMLS symptoms related to Epilepsy, Juvenile Absence 1:


seizures, absence attacks, absence seizures

Drugs & Therapeutics for Epilepsy, Juvenile Absence 1

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Epilepsy, Juvenile Absence 1

Anatomical Context for Epilepsy, Juvenile Absence 1

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

41
Eye, Brain

Publications for Epilepsy, Juvenile Absence 1

Articles related to Epilepsy, Juvenile Absence 1:

(show all 19)
# Title Authors Year
1
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
2
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. ( 27551668 )
2016
3
Celiac Disease and Juvenile Absence Epilepsy. ( 26626904 )
2015
4
Seizure outcome in patients with juvenile absence epilepsy. ( 26531750 )
2015
5
Zonisamide for refractory juvenile absence epilepsy. ( 24907183 )
2014
6
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. ( 24684814 )
2014
7
The double generalization phenomenon in juvenile absence epilepsy. ( 21571594 )
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
Long term prognosis of juvenile absence epilepsy. ( 21163225 )
2011
11
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. ( 19616977 )
2010
12
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. ( 20061122 )
2010
13
Juvenile absence epilepsy exacerbated by valproic acid. ( 17275666 )
2007
14
Outcome of children with juvenile absence epilepsy. ( 16970883 )
2006
15
Long-term prognosis for childhood and juvenile absence epilepsy. ( 15503104 )
2004
16
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
17
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. ( 11920863 )
2002
18
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. ( 9259378 )
1997
19
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
(show top 50) (show all 92)
# 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.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh37 Chromosome 6, 52303336: 52303336
4 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh38 Chromosome 6, 52438538: 52438538
5 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh37 Chromosome 6, 52318945: 52318945
6 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh38 Chromosome 6, 52454147: 52454147
7 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
8 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
9 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
10 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
11 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
12 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
13 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
14 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
15 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh37 Chromosome 6, 52288777: 52288777
16 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh38 Chromosome 6, 52423979: 52423979
17 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh37 Chromosome 6, 52288831: 52288831
18 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh38 Chromosome 6, 52424033: 52424033
19 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh38 Chromosome 6, 52424148: 52424148
20 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh37 Chromosome 6, 52288946: 52288946
21 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh38 Chromosome 6, 52438565: 52438565
22 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh37 Chromosome 6, 52303363: 52303363
23 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh37 Chromosome 6, 52317573: 52317573
24 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh38 Chromosome 6, 52452775: 52452775
25 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh38 Chromosome 6, 52454102: 52454102
26 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh37 Chromosome 6, 52318900: 52318900
27 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh37 Chromosome 6, 52318986: 52318986
28 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh38 Chromosome 6, 52454188: 52454188
29 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh38 Chromosome 6, 52465035: 52465035
30 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh37 Chromosome 6, 52329833: 52329833
31 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh37 Chromosome 6, 52329890: 52329890
32 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh38 Chromosome 6, 52465092: 52465092
33 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh37 Chromosome 6, 52344502: 52344502
34 EFHC1 NM_018100.3(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 GRCh38 Chromosome 6, 52479704: 52479704
35 EFHC1 NM_018100.3(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 GRCh38 Chromosome 6, 52452761: 52452761
36 EFHC1 NM_018100.3(EFHC1): c.647G> A (p.Arg216Gln) single nucleotide variant Uncertain significance rs77682973 GRCh37 Chromosome 6, 52317559: 52317559
37 EFHC1 NM_018100.3(EFHC1): c.564A> G (p.Gln188=) single nucleotide variant Uncertain significance rs766444850 GRCh37 Chromosome 6, 52303380: 52303380
38 EFHC1 NM_018100.3(EFHC1): c.564A> G (p.Gln188=) single nucleotide variant Uncertain significance rs766444850 GRCh38 Chromosome 6, 52438582: 52438582
39 EFHC1 NM_018100.3(EFHC1): c.1820A> G (p.Asn607Ser) single nucleotide variant Benign rs115475262 GRCh37 Chromosome 6, 52355117: 52355117
40 EFHC1 NM_018100.3(EFHC1): c.1820A> G (p.Asn607Ser) single nucleotide variant Benign rs115475262 GRCh38 Chromosome 6, 52490319: 52490319
41 EFHC1 NM_018100.3(EFHC1): c.1221dupA (p.Asp408Argfs) duplication Uncertain significance rs754483740 GRCh37 Chromosome 6, 52334214: 52334214
42 EFHC1 NM_018100.3(EFHC1): c.1221dupA (p.Asp408Argfs) duplication Uncertain significance rs754483740 GRCh38 Chromosome 6, 52469416: 52469416
43 EFHC1 NM_018100.3(EFHC1): c.1586C> A (p.Ala529Glu) single nucleotide variant Uncertain significance rs759944784 GRCh37 Chromosome 6, 52344531: 52344531
44 EFHC1 NM_018100.3(EFHC1): c.1586C> A (p.Ala529Glu) single nucleotide variant Uncertain significance rs759944784 GRCh38 Chromosome 6, 52479733: 52479733
45 EFHC1 NM_018100.3(EFHC1): c.682_692delGACTTTGATCA (p.Asp228Thrfs) deletion Uncertain significance rs1064792981 GRCh38 Chromosome 6, 52452796: 52452806
46 EFHC1 NM_018100.3(EFHC1): c.682_692delGACTTTGATCA (p.Asp228Thrfs) deletion Uncertain significance rs1064792981 GRCh37 Chromosome 6, 52317594: 52317604
47 EFHC1 NM_018100.3(EFHC1): c.125G> A (p.Arg42His) single nucleotide variant Uncertain significance rs773598517 GRCh38 Chromosome 6, 52424007: 52424007
48 EFHC1 NM_018100.3(EFHC1): c.125G> A (p.Arg42His) single nucleotide variant Uncertain significance rs773598517 GRCh37 Chromosome 6, 52288805: 52288805
49 EFHC1 NM_018100.3(EFHC1): c.1369C> T (p.Arg457Cys) single nucleotide variant Uncertain significance rs373196171 GRCh38 Chromosome 6, 52479127: 52479127
50 EFHC1 NM_018100.3(EFHC1): c.1369C> T (p.Arg457Cys) single nucleotide variant Uncertain significance rs373196171 GRCh37 Chromosome 6, 52343925: 52343925

Expression for Epilepsy, Juvenile Absence 1

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Pathways for Epilepsy, Juvenile Absence 1

GO Terms for Epilepsy, Juvenile Absence 1

Sources for Epilepsy, Juvenile Absence 1

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