EJM
MCID: JVN005
MIFTS: 64

Juvenile Myoclonic Epilepsy (EJM) malady

Summaries for Juvenile Myoclonic Epilepsy

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 8 and 20, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, or alcohol consumption.

MalaCards: Juvenile Myoclonic Epilepsy, also known as janz syndrome, is related to juvenile absence epilepsy and idiopathic generalized epilepsy. An important gene associated with Juvenile Myoclonic Epilepsy is EFHC1 (EF-hand domain (C-terminal) containing 1), and among its related pathways are Nicotine addiction and SIDS Susceptibility Pathways. The compounds Ketazolam and Barbituric acid derivative have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and temporal lobe, and related mouse phenotypes are homeostasis/metabolism and behavior/neurological.

Disease Ontology:8 A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.

NIH Rare Diseases:42 Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (gtcss), and sometimes, absence seizures. the seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning, especially if they are sleep-deprived. drinking alcohol and psychological stress may also make these seizures more likely. onset typically occurs around adolesence in otherwise healthy children. the exact cause of juvenile myoclonic epilepsy remains unknown. although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. last updated: 1/20/2009

Wikipedia:63 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic... more...

Description from OMIM:46 607631,254770,613060

Aliases & Classifications for Juvenile Myoclonic Epilepsy

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

juvenile myoclonic epilepsy 8 42 20 22 21
janz syndrome 8 42 21
petit mal, impulsive 42 21
myoclonic epilepsy, juvenile, 1 42
myoclonic epilepsy, juvenile 1 46
adolescent myoclonic epilepsy 21
myoclonic epilepsy, juvenile 60
epilepsy, juvenile myoclonic 46
myoclonic epilepsy juvenile 44
jme 42
ejm 42


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Disease Ontology8 DOID:4890
MeSH34 D020190
SNOMED-CT56 6204001
NCIt39 C84796

Related Diseases for Juvenile Myoclonic Epilepsy

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17GeneCards, 18GeneDecks
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Diseases in the Juvenile Myoclonic Epilepsy family:

Epilepsy Progressive Myoclonic Type 3 Progressive Myoclonic Epilepsy 6
Progressive Myoclonic Epilepsy 5 Scn1a-Related Severe Myoclonic Epilepsy in Infancy
Gabra1-Related Juvenile Myoclonic Epilepsy Cacnb4-Related Juvenile Myoclonic Epilepsy
Clcn2-Related Juvenile Myoclonic Epilepsy Gabrd-Related Juvenile Myoclonic Epilepsy
Efhc1-Related Juvenile Myoclonic Epilepsy Ejm2-Related Juvenile Myoclonic Epilepsy
Ejm3-Related Juvenile Myoclonic Epilepsy Ejm4-Related Juvenile Myoclonic Epilepsy
Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Myoclonic, Adult Familial, 2
Epilepsy, Juvenile Myoclonic 6 Epilepsy, Juvenile Myoclonic 8
Epilepsy, Familial Adult Myoclonic, 4 Epilepsy, Myoclonic, Familial Adult, 3
Myoclonic Epilepsy, Juvenile, 4 Epilepsy, Juvenile Myoclonic 5
Epilepsy, Progressive Myoclonic 2b Epilepsy, Juvenile Myoclonic 3
Epilepsy, Progressive Myoclonic 2a Epilepsy, Myoclonic, Adult Familial, 1
Epilepsy, Progressive Myoclonic 1a Myoclonic Epilepsy of Infancy

Diseases related to Juvenile Myoclonic Epilepsy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile absence epilepsy31.0GABRA1, EFHC1, CLCN2
2idiopathic generalized epilepsy30.9CLCN2, EFHC1, GABRA1, GABRD, BRD2
3childhood absence epilepsy30.7GABRA1
4focal epilepsy10.6
5status epilepticus10.5
6epilepsy syndrome10.5
7frontal lobe epilepsy10.5
8personality disorder10.4
9temporal lobe epilepsy10.3
10cerebritis10.3
11autosomal recessive disease10.3
12migraine10.3
13reflex epilepsy10.3
14gabra1-related juvenile myoclonic epilepsy10.3
15cacnb4-related juvenile myoclonic epilepsy10.3
16clcn2-related juvenile myoclonic epilepsy10.3
17gabrd-related juvenile myoclonic epilepsy10.3
18efhc1-related juvenile myoclonic epilepsy10.3
19ejm2-related juvenile myoclonic epilepsy10.3
20ejm3-related juvenile myoclonic epilepsy10.3
21ejm4-related juvenile myoclonic epilepsy10.3
22epilepsy, juvenile myoclonic, susceptiblity to, 910.3
23epilepsy, juvenile myoclonic 810.3
24myoclonic epilepsy, juvenile, 410.3
25epilepsy, juvenile myoclonic 510.3
26epilepsy, juvenile myoclonic 310.3
27west syndrome10.2
28neuronitis10.2
29visual epilepsy10.2
30insulinoma10.2
31graves' disease10.2
32complex partial epilepsy10.2
33velocardiofacial syndrome10.2
34chromosomal disease10.2
35cranial nerve palsy10.2
36mood disorder10.2
37photosensitive epilepsy10.2
38epilepsy, generalized, with febrile seizures plus, type 510.2
39epilepsy, juvenile myoclonic 610.2
40epilepsy, juvenile absence, susceptibility to, 110.0EJM1, EFHC1
41schizoaffective disorder10.0CHRNA7
42episodic ataxia10.0CACNB4, KCNA6
43epilepsy with generalized tonic-clonic seizures10.0EFHC1, PAQR8

Graphical network of the top 20 diseases related to Juvenile Myoclonic Epilepsy:



Diseases related to juvenile myoclonic epilepsy

Clinical Features for Juvenile Myoclonic Epilepsy

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46OMIM
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Clinical features from OMIM:

607631,254770,613060

Clinical synopsis from OMIM:

254770

Drugs & Therapeutics for Juvenile Myoclonic Epilepsy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Juvenile Myoclonic Epilepsy

Drug clinical trials:

Search ClinicalTrials for Juvenile Myoclonic Epilepsy

Search NIH Clinical Center for Juvenile Myoclonic Epilepsy

Search CenterWatch for Juvenile Myoclonic Epilepsy

Genetic Tests for Juvenile Myoclonic Epilepsy

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20GeneTests, 22GTR
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Genetic tests related to Juvenile Myoclonic Epilepsy:

id Genetic test Affiliating Genes
1 Juvenile Myoclonic Epilepsy20 22 GABRD

Anatomical Context for Juvenile Myoclonic Epilepsy

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32MalaCards
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MalaCards organs/tissues related to Juvenile Myoclonic Epilepsy:

32
Brain, Eye, Temporal lobe, Thalamus, Testes, Cortex, Occipital lobe

Animal Models for Juvenile Myoclonic Epilepsy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Juvenile Myoclonic Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.3BRD2, GABRA1, MEP1A, RHAG, CHRNA7, CLCN2
2MP:00053869.0GSTA3, KCNA6, BRD2, CACNB4, GABRD, GABRA1

Publications for Juvenile Myoclonic Epilepsy

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50PubMed
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Articles related to Juvenile Myoclonic Epilepsy:

(show top 50)    (show all 365)
idTitleAuthorsYear
1
Neuropsychology and behavior in juvenile myoclonic epilepsy. (23756486)
2013
2
Ophthalmoplegic migraine with isolated third cranial nerve palsy in a known case of juvenile myoclonic epilepsy. (24296772)
2013
3
Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy. (23756485)
2013
4
The unexpected role of copy number variations in juvenile myoclonic epilepsy. (23756484)
2013
5
Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome. (24012507)
2013
6
Altered microstructural connectivity in juvenile myoclonic epilepsy: the missing link. (22551729)
2012
7
Widespread cortical morphologic changes in juvenile myoclonic epilepsy: evidence from structural MRI. (22360759)
2012
8
Juvenile myoclonic epilepsy: the impact of clinical variables and psychiatric disorders on executive profile assessed with a comprehensive neuropsychological battery. (23151472)
2012
9
Treatment options in juvenile myoclonic epilepsy. (21494841)
2011
10
Structural abnormalities of the thalamus in juvenile myoclonic epilepsy. (21700499)
2011
11
Brain function and anatomy in juvenile myoclonic epilepsy. (20126333)
2010
12
When the first antiepileptic drug fails in a patient with juvenile myoclonic epilepsy. (20647527)
2010
13
Myoclonic status epilepticus in juvenile myoclonic epilepsy. (20045780)
2009
14
Patient page. Juvenile myoclonic epilepsy, a common epilepsy syndrome. (19786691)
2009
15
Levetiracetam monotherapy in juvenile myoclonic epilepsy. (17692537)
2008
16
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. (18505993)
2008
17
Commentary on the usefulness of a morning routine EEG recording in patients with juvenile myoclonic epilepsy. (18222065)
2008
18
Cortical thickness abnormality in juvenile myoclonic epilepsy. (18227991)
2008
19
Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand. (18593566)
2008
20
Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study. (17972043)
2007
21
Psychiatric disorders in juvenile myoclonic epilepsy. (17509008)
2007
22
Regional grey matter abnormalities in juvenile myoclonic epilepsy: a voxel-based morphometry study. (17689105)
2007
23
Insulinoma misdiagnosed as juvenile myoclonic epilepsy. (17123109)
2007
24
Psychiatric comorbidity in juvenile myoclonic epilepsy. (17201708)
2006
25
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. (16824517)
2006
26
Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy. (15863675)
2005
27
Juvenile myoclonic epilepsy masquerading as ecstasy withdrawal. (16300111)
2005
28
EEG recording after sleep deprivation in a series of patients with juvenile myoclonic epilepsy]. (16059584)
2005
29
Evolving antiepileptic drug treatment in juvenile myoclonic epilepsy. (15313858)
2004
30
Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14. (12049804)
2002
31
The long-term course of seizure susceptibility in two patients with juvenile myoclonic epilepsy. (11945100)
2002
32
Psychogenic seizures mimicking juvenile myoclonic epilepsy: case reports. (11437621)
2001
33
A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein. (11676489)
2001
34
Evolution of juvenile myoclonic epilepsy treated from the outset with sodium valproate. (11700996)
2001
35
Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy. (10677311)
2000
36
Structural brain lesions do not influence the prognosis of juvenile myoclonic epilepsy. (10987379)
2000
37
Valproate monotherapy in juvenile myoclonic epilepsy: dose-related effects on electroencephalographic and other neurophysiologic tests. (10051060)
1999
38
Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14. (10206240)
1999
39
Clinical and EEG asymmetries in juvenile myoclonic epilepsy (JME). (9048681)
1997
40
Pharmacokinetics of valproic acid in patients with juvenile myoclonic epilepsy on monotherapy. (9108642)
1997
41
Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region. (8751867)
1996
42
Two patients with juvenile myoclonic epilepsy and nonconvulsive status epilepticus. (8598187)
1996
43
Association of HLA class II alleles in patients with juvenile myoclonic epilepsy compared with patients with other forms of adolescent-onset generalized epilepsy. (8797474)
1996
44
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. (7668263)
1995
45
Possible association of juvenile myoclonic epilepsy with HLA-DRw6. (1396421)
1992
46
The seizure prognosis of juvenile myoclonic epilepsy. (1434150)
1992
47
Absences in juvenile myoclonic epilepsy: a clinical and video-electroencephalographic study. (2496640)
1989
48
Segregation analysis of juvenile myoclonic epilepsy. (3136050)
1988
49
Juvenile myoclonic epilepsy. (3140737)
1988
50
Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. (3146924)
1988

Genetic Variations for Juvenile Myoclonic Epilepsy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Juvenile Myoclonic Epilepsy:

62
id Symbol AA change Variation ID SNP ID
1EFHC1p.Pro77ThrVAR_023619rs149055334
2EFHC1p.Asp210AsnVAR_023622
3EFHC1p.Arg221HisVAR_023623rs79761183
4EFHC1p.Asp253TyrVAR_023625
5EFHC1p.Arg353TrpVAR_043157
6GABRDp.Glu177AlaVAR_043151

Expression for genes affiliated with Juvenile Myoclonic Epilepsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Juvenile Myoclonic Epilepsy

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

Pathways for genes affiliated with Juvenile Myoclonic Epilepsy

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29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2GABRD, GABRA1, CHRNA7
210.1CHRFAM7A, CHRNA7, GABRA1
3
Hide members
9.8GJD2, CHRNA7, GABRA1, CACNB4, KCNA6

Compounds for genes affiliated with Juvenile Myoclonic Epilepsy

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11DrugBank, 28IUPHAR, 59Tocris Bioscience, 44Novoseek, 24HMDB, 49PharmGKB
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Compounds related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1Ketazolam1110.7GABRD, GABRA1
2Barbituric acid derivative1110.7GABRA1, CHRNA7
3thip2810.7GABRA1, GABRD
4Butalbital1110.7CHRNA7, GABRA1
5Heptabarbital1110.7CHRNA7, GABRA1
6Metharbital1110.7CHRNA7, GABRA1
7Talbutal1110.7CHRNA7, GABRA1
8methyllycaconitine citrate5910.7CHRFAM7A, CHRNA7
9Butethal1110.7GABRA1, CHRNA7
10ns 17385910.7CHRNA7, CHRFAM7A
11pnu 2829875910.7CHRNA7, CHRFAM7A
12Aprobarbital1110.7CHRNA7, GABRA1
13pnu 1205965910.7CHRNA7, CHRFAM7A
14epibatidine44 1111.7CHRFAM7A, CHRNA7
15Barbital1110.7CHRNA7, GABRA1
16Cinolazepam1110.7GABRA1, GABRD
17Butabarbital1110.7CHRNA7, GABRA1
18alpha-bungarotoxin44 5911.7CHRNA7, CHRFAM7A
19Halazepam1110.7GABRA1, GABRD
20Methylphenobarbital1110.7GABRA1, CHRNA7
21amobarbital44 1111.7GABRA1, CHRNA7
22Fludiazepam1110.7GABRA1, GABRD
23Secobarbital1110.6CHRNA7, GABRA1
24(+)-bicuculline5910.6GABRD, GABRA1
25(-)-bicuculline methochloride5910.6GABRD, GABRA1
26(-)-bicuculline methiodide5910.6GABRD, GABRA1
27sr 95531 hydrobromide5910.6GABRD, GABRA1
28Prazepam1110.6GABRD, GABRA1
29Adinazolam1110.6GABRD, GABRA1
30zn2+2810.6GABRA1, CLCN2
31estazolam44 1111.6GABRD, GABRA1
32primidone44 1111.6GABRA1, CHRNA7
33quazepam44 1111.6GABRD, GABRA1
34hexobarbital44 1111.6GABRA1, CHRNA7
35Clotiazepam1110.6GABRD, GABRA1
36bicuculline44 2811.5GABRA1, CHRNA7
37Clorazepate1110.5GABRA1, GABRD
38thiopental44 1111.5GABRA1, CHRNA7
39pentobarbital44 1111.5CHRNA7, GABRA1
40bromazepam44 1111.5GABRD, GABRA1
41nitrazepam44 1111.5GABRD, GABRA1
42chlorine44 2411.5CLCN2, GABRA1, GABRD
43Temazepam1110.4GABRD, GABRA1
44lorazepam44 49 1112.4GABRD, GABRA1
45flurazepam44 1111.4GABRD, GABRA1
46oxazepam49 1111.3GABRD, GABRA1
47clobazam44 49 1112.3GABRD, GABRA1
48tbps44 2811.3GABRA1, GABRD
49chlordiazepoxide44 1111.2GABRD, GABRA1
50clonazepam44 1111.0GABRA1, GABRD

GO Terms for genes affiliated with Juvenile Myoclonic Epilepsy

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16Gene Ontology
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Cellular components related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1postsynaptic membraneGO:04521110.0CHRFAM7A, CHRNA7, GABRA1, GABRD
2chloride channel complexGO:0347079.8CLCN2, GABRA1, GABRD

Biological processes related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:00721410.3GABRA1, CACNB4
2synaptic transmissionGO:0072689.6GJD2, CHRNA7, GABRA1, GABRD, CACNB4, KCNA6
3transportGO:0068109.6CACNB4, GABRD, GABRA1, CLCN2, SLC25A27

Molecular functions related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:00489010.3GABRA1, GABRD
2extracellular ligand-gated ion channel activityGO:0052309.8CHRFAM7A, GABRA1, GABRD

Products for genes affiliated with Juvenile Myoclonic Epilepsy

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Sources for Juvenile Myoclonic Epilepsy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet