JAE1
MCID: EPL133
MIFTS: 33

Epilepsy, Juvenile Absence 1 (JAE1)

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
UMLS 73 C0014553

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 seizures and absence attacks. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain Containing 1). Affiliated tissues include eye, brain and prostate, and related phenotypes are absence seizures and abnormality of eye movement

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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 12.6
2 epilepsy, idiopathic generalized 11 11.9
3 epilepsy, idiopathic generalized 10 11.4
4 epilepsy, idiopathic generalized 11.1
5 epilepsy 10.5
6 carney complex, type 1 10.1
7 prostate cancer 10.1
8 caronte 10.1
9 wrinkles 10.1
10 celiac disease 1 9.9
11 amnestic disorder 9.9
12 transient global amnesia 9.9

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

UMLS symptoms related to Epilepsy, Juvenile Absence 1:


seizures, absence seizures, absence attacks

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, Prostate

Publications for Epilepsy, Juvenile Absence 1

Articles related to Epilepsy, Juvenile Absence 1:

(show all 20)
# Title Authors Year
1
Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. ( 29807291 )
2018
2
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient. ( 30530409 )
2018
3
Cortical and subcortical brain alterations in Juvenile Absence Epilepsy. ( 27551668 )
2016
4
Celiac Disease and Juvenile Absence Epilepsy. ( 26626904 )
2015
5
Seizure outcome in patients with juvenile absence epilepsy. ( 26531750 )
2015
6
Zonisamide for refractory juvenile absence epilepsy. ( 24907183 )
2014
7
Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. ( 24684814 )
2014
8
The double generalization phenomenon in juvenile absence epilepsy. ( 21571594 )
2011
9
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
10
Temporal intermittent I' activity: a marker of juvenile absence epilepsy? ( 21044851 )
2011
11
Long term prognosis of juvenile absence epilepsy. ( 21163225 )
2011
12
A proton magnetic resonance spectroscopic study in juvenile absence epilepsy in early stages. ( 19616977 )
2010
13
Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. ( 20061122 )
2010
14
Juvenile absence epilepsy exacerbated by valproic acid. ( 17275666 )
2007
15
Outcome of children with juvenile absence epilepsy. ( 16970883 )
2006
16
Long-term prognosis for childhood and juvenile absence epilepsy. ( 15503104 )
2004
17
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. ( 15582027 )
2004
18
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. ( 11920863 )
2002
19
Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. ( 9259378 )
1997
20
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 158)
# 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.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh37 Chromosome 6, 52288909: 52288909
4 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh38 Chromosome 6, 52424111: 52424111
5 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh37 Chromosome 6, 52303336: 52303336
6 EFHC1 NM_018100.3(EFHC1): c.520A> G (p.Ile174Val) single nucleotide variant risk factor rs137852779 GRCh38 Chromosome 6, 52438538: 52438538
7 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh37 Chromosome 6, 52318945: 52318945
8 EFHC1 NM_018100.3(EFHC1): c.776G> A (p.Cys259Tyr) single nucleotide variant risk factor rs137852780 GRCh38 Chromosome 6, 52454147: 52454147
9 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh37 Chromosome 6, 52317574: 52317574
10 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh38 Chromosome 6, 52452776: 52452776
11 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh37 Chromosome 6, 52317541: 52317541
12 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh38 Chromosome 6, 52452743: 52452743
13 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh37 Chromosome 6, 52334148: 52334148
14 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh38 Chromosome 6, 52469350: 52469350
15 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh37 Chromosome 6, 52334217: 52334217
16 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh38 Chromosome 6, 52469419: 52469419
17 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh37 Chromosome 6, 52343899: 52343899
18 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh38 Chromosome 6, 52479101: 52479101
19 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh37 Chromosome 6, 52343941: 52343941
20 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh38 Chromosome 6, 52479143: 52479143
21 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh37 Chromosome 6, 52355109: 52355109
22 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh38 Chromosome 6, 52490311: 52490311
23 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh37 Chromosome 6, 52357062: 52357062
24 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh38 Chromosome 6, 52492264: 52492264
25 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh37 Chromosome 6, 52285233: 52285233
26 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh38 Chromosome 6, 52420435: 52420435
27 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh37 Chromosome 6, 52319050: 52319050
28 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh38 Chromosome 6, 52454252: 52454252
29 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh37 Chromosome 6, 52288770: 52288770
30 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh38 Chromosome 6, 52423972: 52423972
31 EFHC1 NM_018100.3(EFHC1): c.887G> A (p.Arg296His) single nucleotide variant Conflicting interpretations of pathogenicity rs115205076 GRCh37 Chromosome 6, 52319056: 52319056
32 EFHC1 NM_018100.3(EFHC1): c.887G> A (p.Arg296His) single nucleotide variant Conflicting interpretations of pathogenicity rs115205076 GRCh38 Chromosome 6, 52454258: 52454258
33 EFHC1 NM_018100.3(EFHC1): c.64-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201860746 GRCh37 Chromosome 6, 52288739: 52288739
34 EFHC1 NM_018100.3(EFHC1): c.64-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201860746 GRCh38 Chromosome 6, 52423941: 52423941
35 EFHC1 NM_018100.3(EFHC1): c.210A> G (p.Pro70=) single nucleotide variant Benign rs145367062 GRCh37 Chromosome 6, 52288890: 52288890
36 EFHC1 NM_018100.3(EFHC1): c.210A> G (p.Pro70=) single nucleotide variant Benign rs145367062 GRCh38 Chromosome 6, 52424092: 52424092
37 EFHC1 NM_018100.3(EFHC1): c.1069G> A (p.Glu357Lys) single nucleotide variant Benign/Likely benign rs505760 GRCh37 Chromosome 6, 52329845: 52329845
38 EFHC1 NM_018100.3(EFHC1): c.1069G> A (p.Glu357Lys) single nucleotide variant Benign/Likely benign rs505760 GRCh38 Chromosome 6, 52465047: 52465047
39 EFHC1 NM_018100.3(EFHC1): c.1893C> T (p.Tyr631=) single nucleotide variant Benign rs35648306 GRCh37 Chromosome 6, 52357109: 52357109
40 EFHC1 NM_018100.3(EFHC1): c.1893C> T (p.Tyr631=) single nucleotide variant Benign rs35648306 GRCh38 Chromosome 6, 52492311: 52492311
41 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
42 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
43 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
44 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
45 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
46 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
47 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
48 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
49 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh38 Chromosome 6, 52423950: 52423950
50 EFHC1 NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile) single nucleotide variant Uncertain significance rs779993809 GRCh37 Chromosome 6, 52288748: 52288748

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....