EJM
MCID: JVN005
MIFTS: 64

Juvenile Myoclonic Epilepsy (EJM) malady

Summaries for Juvenile Myoclonic Epilepsy

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 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 thip 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, Cortex, Testes, 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
Clinical predictors of the long-term social outcome and quality of life in juvenile myoclonic epilepsy: 20-65A years of follow-up. (24417603)
2014
2
Juvenile myoclonic epilepsy. (23756472)
2013
3
Risk-taking behavior in juvenile myoclonic epilepsy. (24138327)
2013
4
Management of juvenile myoclonic epilepsy. (23756489)
2013
5
Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1. (23756481)
2013
6
Prognosis of juvenile myoclonic epilepsy 45 years after onset: Seizure outcome and predictors. (24212391)
2013
7
Interrelationship of sleep and juvenile myoclonic epilepsy (JME): a sleep questionnaire-, EEG-, and polysomnography (PSG)-based prospective case-control study. (23103316)
2012
8
Microstructural white matter abnormality and frontal cognitive dysfunctions in juvenile myoclonic epilepsy. (22708960)
2012
9
Myoclonin1/EFHC1 in cell division, neuroblast migration, synapse/dendrite formation in juvenile myoclonic epilepsy (22787620)
2012
10
GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy. (21887291)
2011
11
Headache in juvenile myoclonic epilepsy. (21437711)
2011
12
Juvenile myoclonic epilepsy presenting as a new daily persistent-like headache. (21739107)
2011
13
Juvenile myoclonic epilepsy. (20831037)
2010
14
Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? (19695908)
2009
15
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. (18823326)
2009
16
Dental injury during seizures associated with juvenile myoclonic epilepsy. (19091715)
2009
17
The first line of therapy in a girl with juvenile myoclonic epilepsy: should it be valproate or a new agent? (19702728)
2009
18
Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy. (18463366)
2008
19
Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents. (18173626)
2008
20
Psychiatric disorders in juvenile myoclonic epilepsy: a controlled study of 100 patients. (17347053)
2007
21
Juvenile myoclonic epilepsy. (18345445)
2007
22
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy. (17437413)
2007
23
Neuropsychological profile of patients with juvenile myoclonic epilepsy: a controlled study of 50 patients. (17258506)
2007
24
Reduced axon number in juvenile myoclonic epilepsy demonstrated by motor unit number estimation analysis. (17844940)
2007
25
Structural brain abnormalities in juvenile myoclonic epilepsy patients: volumetry and voxel-based morphometry. (16969045)
2006
26
Circadian rhythm and personality profile in juvenile myoclonic epilepsy. (17105479)
2006
27
Genetics of juvenile myoclonic epilepsy: faulty components and faulty wiring? (15508927)
2005
28
Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features. (15508924)
2005
29
Mechanisms, genetics, and pathogenesis of juvenile myoclonic epilepsy. (15791145)
2005
30
Cognitive function in juvenile myoclonic epilepsy. (15145302)
2004
31
Mutations in EFHC1 cause juvenile myoclonic epilepsy. (15258581)
2004
32
Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population. (12928862)
2003
33
Non-convulsive status epilepticus: a rare presentation of juvenile myoclonic epilepsy. (14742940)
2003
34
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. (11992121)
2002
35
Clinical expression and EEG features of patients with juvenile myoclonic epilepsy (JME) from North India. (12237068)
2002
36
Nonconvulsion status epilepticus in patients with juvenile myoclonic epilepsy: types and frequencies. (12076107)
2002
37
Effect of sodium valproate on somatosensory evoked potentials in juvenile myoclonic epilepsy. (12166512)
2001
38
Is it juvenile myoclonic epilepsy? (10937168)
2000
39
No evidence of linkage to 6p markers in spanish families with juvenile myoclonic epilepsy. (10832022)
2000
40
Photosensitivity in juvenile myoclonic epilepsy. (10845733)
2000
41
No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. (10686551)
2000
42
Interictal mood and personality disorders in temporal lobe epilepsy and juvenile myoclonic epilepsy. (8971108)
1996
43
Analysis of a human brain voltage-gated potassium channel gene, KCNA6 (HBK2), in patients with juvenile myoclonic epilepsy. (8719753)
1995
44
Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. (8156947)
1994
45
Review: juvenile myoclonic epilepsy. (8033330)
1994
46
Diagnosing juvenile myoclonic epilepsy in an elderly patient. (8000720)
1994
47
Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy. (2121470)
1990
48
Juvenile myoclonic epilepsy: characteristics of a primary generalized epilepsy. (2506006)
1989
49
Juvenile myoclonic epilepsy: an autosomal recessive disease. (2505665)
1989
50
Juvenile myoclonic epilepsy: a study in Saudi Arabia. (3131135)
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
1Ketazolam1110.7GABRA1, GABRD
2thip2810.7GABRD, GABRA1
3Butethal1110.7GABRA1, CHRNA7
4Barbituric acid derivative1110.7CHRNA7, GABRA1
5Butabarbital1110.7GABRA1, CHRNA7
6Aprobarbital1110.7GABRA1, CHRNA7
7Barbital1110.7GABRA1, CHRNA7
8methyllycaconitine citrate5910.7CHRNA7, CHRFAM7A
9ns 17385910.7CHRNA7, CHRFAM7A
10Talbutal1110.7GABRA1, CHRNA7
11pnu 2829875910.7CHRNA7, CHRFAM7A
12Metharbital1110.7GABRA1, CHRNA7
13pnu 1205965910.7CHRNA7, CHRFAM7A
14epibatidine44 1111.7CHRNA7, CHRFAM7A
15Heptabarbital1110.7GABRA1, CHRNA7
16alpha-bungarotoxin44 5911.7CHRFAM7A, CHRNA7
17sr 95531 hydrobromide5910.7GABRA1, GABRD
18Butalbital1110.7GABRA1, CHRNA7
19(-)-bicuculline methiodide5910.7GABRA1, GABRD
20Methylphenobarbital1110.7GABRA1, CHRNA7
21amobarbital44 1111.7CHRNA7, GABRA1
22Fludiazepam1110.7GABRD, GABRA1
23Secobarbital1110.6CHRNA7, GABRA1
24(-)-bicuculline methochloride5910.6GABRA1, GABRD
25(+)-bicuculline5910.6GABRA1, GABRD
26Cinolazepam1110.6GABRD, GABRA1
27Halazepam1110.6GABRA1, GABRD
28Prazepam1110.6GABRA1, GABRD
29Adinazolam1110.6GABRD, GABRA1
30zn2+2810.6GABRA1, CLCN2
31estazolam44 1111.6GABRD, GABRA1
32primidone44 1111.6GABRA1, CHRNA7
33quazepam44 1111.6GABRD, GABRA1
34Clotiazepam1110.6GABRA1, GABRD
35hexobarbital44 1111.6CHRNA7, GABRA1
36bicuculline44 2811.5CHRNA7, GABRA1
37Clorazepate1110.5GABRD, GABRA1
38thiopental44 1111.5CHRNA7, GABRA1
39pentobarbital44 1111.5GABRA1, CHRNA7
40nitrazepam44 1111.5GABRD, GABRA1
41bromazepam44 1111.5GABRD, GABRA1
42chlorine44 2411.5CLCN2, GABRA1, GABRD
43lorazepam44 49 1112.4GABRD, GABRA1
44flurazepam44 1111.4GABRD, GABRA1
45Temazepam1110.4GABRA1, GABRD
46oxazepam49 1111.3GABRD, GABRA1
47chlordiazepoxide44 1111.3GABRD, GABRA1
48tbps44 2811.3GABRD, GABRA1
49clobazam44 49 1112.2GABRA1, GABRD
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