EJM
MCID: JVN005
MIFTS: 67

Juvenile Myoclonic Epilepsy (EJM) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Juvenile Myoclonic Epilepsy

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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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 idiopathic generalized epilepsy and epilepsy syndrome. An important gene associated with Juvenile Myoclonic Epilepsy is EFHC1 (EF-hand domain (C-terminal) containing 1), and among its related pathways are GABA signaling in brain and Sweet Taste Signaling. The compounds thip and (+)-bicuculline have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and temporal lobe, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

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:43 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:65 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic... more...

Description from OMIM:47 254770,607631,613060

Aliases & Classifications for Juvenile Myoclonic Epilepsy

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

juvenile myoclonic epilepsy 8 43 20 22 21
janz syndrome 8 43 21
petit mal, impulsive 43 21
myoclonic epilepsy, juvenile, 1 43
myoclonic epilepsy, juvenile 1 47
adolescent myoclonic epilepsy 21
myoclonic epilepsy, juvenile 62
epilepsy, juvenile myoclonic 47
myoclonic epilepsy juvenile 45
jme 43
ejm 43


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Disease Ontology8 DOID:4890
SNOMED-CT58 6204001
NCIt40 C84796
MeSH35 D020190

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 38)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic generalized epilepsy31.0GABRA1, GABRD, EFHC1, CLCN2
2epilepsy syndrome30.5GABRA1, CACNB4, CLCN2
3juvenile absence epilepsy30.3GABRA1, EFHC1, CLCN2
4status epilepticus10.6
5childhood absence epilepsy10.5
6temporal lobe epilepsy10.4
7cerebritis10.4
8autosomal recessive disease10.4
9migraine10.4
10personality disorder10.4
11gabra1-related juvenile myoclonic epilepsy10.4
12cacnb4-related juvenile myoclonic epilepsy10.4
13clcn2-related juvenile myoclonic epilepsy10.4
14gabrd-related juvenile myoclonic epilepsy10.4
15efhc1-related juvenile myoclonic epilepsy10.4
16ejm2-related juvenile myoclonic epilepsy10.4
17ejm3-related juvenile myoclonic epilepsy10.4
18ejm4-related juvenile myoclonic epilepsy10.4
19headache10.4
20epilepsy, juvenile myoclonic, susceptiblity to, 910.4
21epilepsy, juvenile myoclonic 810.4
22myoclonic epilepsy, juvenile, 410.4
23epilepsy, juvenile myoclonic 510.4
24epilepsy, juvenile myoclonic 310.4
25neuronitis10.2
26velocardiofacial syndrome10.2
27frontal lobe epilepsy10.2
28west syndrome10.2
29graves' disease10.2
30insulinoma10.2
31cranial nerve palsy10.2
32focal epilepsy10.2
33photosensitive epilepsy10.2
34myoclonus10.2
35epilepsy, generalized, with febrile seizures plus, type 510.2
36epilepsy, juvenile myoclonic 610.2
37dravet syndrome10.1GABRD
38bipolar disorder10.0GABRA1, CHRNA7

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



Diseases related to juvenile myoclonic epilepsy

Symptoms for Juvenile Myoclonic Epilepsy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

254770

Clinical features from OMIM:

254770,607631,613060

Drugs & Therapeutics for Juvenile Myoclonic Epilepsy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Juvenile Myoclonic Epilepsy

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Juvenile Myoclonic Epilepsy:

33
Brain, Eye, Temporal lobe, Thalamus, Cortex, Testes, Occipital lobe

Animal Models for Juvenile Myoclonic Epilepsy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Juvenile Myoclonic Epilepsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5GABRA1, GABRD, CACNB4
2MP:00053818.5GJD2, CACNB4, MEP1A, CLCN2
3MP:00053898.2CLCN2, CHRNA7, MEP1A, CACNB4, GABRD, GABRA1
4MP:00053918.1CLCN2, CACNB4, GSTA3, GJD2
5MP:00036317.8CLCN2, EFHC1, CHRNA7, CACNB4, GJD2, GABRD
6MP:00053977.6CLCN2, CHRNA7, MEP1A, CACNB4, GSTA3
7MP:00053767.4CLCN2, CHRNA7, MEP1A, GSTA3, GJD2, GABRA1
8MP:00053867.0GABRA1, CLCN2, EFHC1, CHRNA7, CACNB4, GSTA3

Publications for Juvenile Myoclonic Epilepsy

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52PubMed
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Articles related to Juvenile Myoclonic Epilepsy:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Neuropsychology and behavior in juvenile myoclonic epilepsy. (23756486)
2013
2
Juvenile myoclonic epilepsy. (23756472)
2013
3
Juvenile myoclonic epilepsy: Clinical characteristics, standard and quantitative electroencephalography analyses. (24082923)
2013
4
Risk-taking behavior in juvenile myoclonic epilepsy. (24138327)
2013
5
Altered microstructural connectivity in juvenile myoclonic epilepsy: the missing link. (22551729)
2012
6
Widespread cortical morphologic changes in juvenile myoclonic epilepsy: evidence from structural MRI. (22360759)
2012
7
GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy. (21887291)
2011
8
Hippocampal metabolic dysfunction in juvenile myoclonic epilepsy: 3D multivoxel spectroscopy study. (21420103)
2011
9
Understanding juvenile myoclonic epilepsy: Contributions from neuroimaging. (21482074)
2011
10
Motor system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study. (21616969)
2011
11
Fronto-polar epilepsy masquerading as juvenile myoclonic epilepsy. (21865125)
2011
12
Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (20141545)
2010
13
Treatment of juvenile myoclonic epilepsy. (18684236)
2008
14
A frontal assault on the generalized nature of juvenile myoclonic epilepsy. (19127308)
2008
15
Levetiracetam monotherapy in juvenile myoclonic epilepsy. (17692537)
2008
16
Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy. (19064879)
2008
17
Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy. (18463366)
2008
18
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. (17507253)
2007
19
Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study. (17972043)
2007
20
Proton magnetic resonance spectroscopy study of bilateral thalamus in juvenile myoclonic epilepsy. (17391993)
2007
21
Juvenile myoclonic epilepsy starting in the eighth decade. (17884761)
2007
22
Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy. (16414227)
2006
23
The treatment of juvenile myoclonic epilepsy. (16784408)
2006
24
Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy? (16567323)
2006
25
Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy. (16572395)
2006
26
Psychiatric comorbidity in juvenile myoclonic epilepsy. (17201708)
2006
27
Genetics of juvenile myoclonic epilepsy: faulty components and faulty wiring? (15508927)
2005
28
Topiramate for the treatment of juvenile myoclonic epilepsy. (16258645)
2005
29
Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population. (12928862)
2003
30
Thalamic dysfunction in juvenile myoclonic epilepsy: a proton MRS study. (14636347)
2003
31
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. (11992121)
2002
32
Psychogenic seizures mimicking juvenile myoclonic epilepsy: case reports. (11437621)
2001
33
Effect of sodium valproate on somatosensory evoked potentials in juvenile myoclonic epilepsy. (12166512)
2001
34
A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein. (11676489)
2001
35
Early and late intracortical inhibition in juvenile myoclonic epilepsy. (10999552)
2000
36
Is it juvenile myoclonic epilepsy? (10937168)
2000
37
Juvenile myoclonic epilepsy: clinical and EEG features. (9531431)
1998
38
Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes. (9129713)
1997
39
A special kind of anterior horn cell involvement in juvenile myoclonic epilepsy demonstrated by macro electromyography. (9040651)
1997
40
Anterior horn cells might be subclinically affected in juvenile myoclonic epilepsy (JME) (7614932)
1995
41
Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. (8156947)
1994
42
Juvenile myoclonic epilepsy. (8087714)
1994
43
Juvenile myoclonic epilepsy. (8423123)
1993
44
Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. (8352275)
1993
45
Somatosensory evoked potentials in juvenile myoclonic epilepsy. (1592032)
1992
46
Possible association of juvenile myoclonic epilepsy with HLA-DRw6. (1396421)
1992
47
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. (1922810)
1991
48
Juvenile myoclonic epilepsy: long-term response to therapy. (2506007)
1989
49
Juvenile myoclonic epilepsy: a study in Saudi Arabia. (3131135)
1988
50
Epilepsy with impulsive petit mal (juvenile myoclonic epilepsy). (3936330)
1985

Variations for Juvenile Myoclonic Epilepsy

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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Juvenile Myoclonic Epilepsy:

64
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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2BioGPS, 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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50PathCards, 12EMD Millipore, 54R&D Systems, 53QIAGEN, 30KEGG, 60Thomson Reuters, 51PharmGKB, 38NCBI BioSystems Database, 55Reactome
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Compounds for genes affiliated with Juvenile Myoclonic Epilepsy

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29IUPHAR, 61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1thip2910.2GABRA1, GABRD
2(+)-bicuculline6110.2GABRD, GABRA1
3(-)-bicuculline methochloride6110.2GABRD, GABRA1
4(-)-bicuculline methiodide6110.2GABRD, GABRA1
5sr 95531 hydrobromide6110.2GABRD, GABRA1
6estazolam45 1111.2GABRA1, GABRD
7quazepam45 1111.2GABRD, GABRA1
8nitrazepam45 1111.2GABRD, GABRA1
9bromazepam45 1111.1GABRD, GABRA1
10lorazepam45 51 1112.1GABRA1, GABRD
11flurazepam45 1111.1GABRA1, GABRD
12amobarbital45 1111.1CHRNA7, GABRA1
13oxazepam51 1111.1GABRD, GABRA1
14chlordiazepoxide45 1111.1GABRD, GABRA1
15clonazepam45 1111.1GABRD, GABRA1
16primidone45 1111.1GABRA1, CHRNA7
17hexobarbital45 1111.1CHRNA7, GABRA1
18tbps45 2911.1GABRD, GABRA1
19thiopental45 1111.1CHRNA7, GABRA1
20bicuculline45 2911.1CHRNA7, GABRA1
21pentobarbital45 1111.1GABRA1, CHRNA7
22zn2+2910.0CLCN2, GABRA1
23muscimol45 61 2912.0GABRD, GABRA1
24triazolam45 1111.0GABRA1, GABRD
25picrotoxin45 29 1112.0GABRA1, GABRD
26clobazam45 51 1111.9GABRD, GABRA1
27alprazolam45 1110.9GABRD, GABRA1
28Gamma-Aminobutyric acid249.8GABRA1, GABRD
29chlorine45 2410.8GABRA1, GABRD, CLCN2
30midazolam45 51 1111.7GABRD, GABRA1
31phenobarbital45 29 51 1112.7GABRA1, CHRNA7
32diazepam45 29 51 1112.5GABRA1, GABRD
33gaba459.3GABRA1, GJD2, CHRNA7

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
1cell junctionGO:0300549.4GABRA1, GABRD, CHRNA7
2chloride channel complexGO:0347079.3GABRA1, GABRD, CLCN2
3postsynaptic membraneGO:0452119.1GABRA1, GABRD, CHRNA7

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

idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:0072149.7GABRA1, CACNB4
2cellular calcium ion homeostasisGO:0068749.4CACNB4, CHRNA7
3transmembrane transportGO:0550859.1GABRA1, GJD2, CLCN2
4transportGO:0068109.0CLCN2, CACNB4, GABRD, GABRA1
5synaptic transmissionGO:0072688.5GABRA1, GABRD, GJD2, CACNB4, CHRNA7

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

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:0048909.8GABRA1, GABRD
2extracellular ligand-gated ion channel activityGO:0052309.7GABRA1, GABRD
3drug bindingGO:0081449.7GABRA1, CHRNA7
4chloride channel activityGO:0052549.5GABRA1, GABRD

Products for genes affiliated with Juvenile Myoclonic Epilepsy

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Sources for Juvenile Myoclonic Epilepsy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet