EJM
MCID: JVN005
MIFTS: 59

Juvenile Myoclonic Epilepsy (EJM) malady

Summaries for Juvenile Myoclonic Epilepsy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 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 juvenile absence epilepsy and childhood absence 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, cortex and t cells, 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: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:64 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic... more...

Description from OMIM:47 607631,254770,613060

Aliases & Classifications for Juvenile Myoclonic Epilepsy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
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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 61
epilepsy, juvenile myoclonic 47
myoclonic epilepsy juvenile 45
jme 43
ejm 43


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Disease Ontology8 DOID:4890
MeSH35 D020190
SNOMED-CT57 6204001
NCIt40 C84796

Related Diseases for Juvenile Myoclonic Epilepsy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Juvenile Myoclonic Epilepsy family:

epilepsy progressive myoclonic type 3 progressive myoclonic epilepsy 3 with or without intracellular inclusions
progressive myoclonic epilepsy 6 progressive myoclonic epilepsy 5
epilepsy, familial adult myoclonic, 5 epilepsy, myoclonic, adult familial, 2
epilepsy, juvenile myoclonic 6 epilepsy, juvenile myoclonic 8
epilepsy, familial adult myoclonic, 4 epilepsy, progressive myoclonic 4, with or without renal failure
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
1juvenile absence epilepsy31.0GABRA1, EFHC1, CLCN2
2childhood absence epilepsy30.7GABRA1
3epilepsy, juvenile myoclonic 610.6
4status epilepticus10.5
5frontal lobe epilepsy10.5
6photosensitive epilepsy10.5
7efhc1-related juvenile myoclonic epilepsy10.4
8epilepsy, juvenile myoclonic 510.4
9temporal lobe epilepsy10.3
10autosomal recessive disease10.3
11gabra1-related juvenile myoclonic epilepsy10.3
12cacnb4-related juvenile myoclonic epilepsy10.3
13clcn2-related juvenile myoclonic epilepsy10.3
14gabrd-related juvenile myoclonic epilepsy10.3
15ejm2-related juvenile myoclonic epilepsy10.3
16ejm3-related juvenile myoclonic epilepsy10.3
17ejm4-related juvenile myoclonic epilepsy10.3
18headache10.3
19epilepsy, juvenile myoclonic, susceptiblity to, 910.3
20epilepsy, juvenile myoclonic 810.3
21myoclonic epilepsy, juvenile, 410.3
22epilepsy, juvenile myoclonic 310.3
23west syndrome10.2
24visual epilepsy10.2
25insulinoma10.2
26graves' disease10.2
27complex partial epilepsy10.2
28velocardiofacial syndrome10.2
29corpus callosum agenesis10.2
30myoclonus epilepsy10.2
31myoclonus10.2
32epilepsy, generalized, with febrile seizures plus, type 510.2
33epilepsy, idiopathic generalized 610.2
34epilepsy, juvenile absence, susceptibility to, 110.0EJM1, EFHC1
35schizoaffective disorder10.0CHRNA7
36episodic ataxia10.0CACNB4, KCNA6
37epilepsy with generalized tonic-clonic seizures10.0EFHC1, PAQR8
38idiopathic generalized epilepsy10.0CLCN2, EFHC1, GABRA1, GABRD, BRD2

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



Diseases related to juvenile myoclonic epilepsy

Clinical Features for Juvenile Myoclonic Epilepsy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607631,254770,613060

Clinical synopsis from OMIM:

254770

Drugs & Therapeutics for Juvenile Myoclonic Epilepsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Juvenile Myoclonic Epilepsy:

33
Brain, Cortex, T cells, B cells, Prefrontal cortex, Temporal lobe, Occipital lobe, Thalamus

Animal Models for Juvenile Myoclonic Epilepsy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Juvenile Myoclonic Epilepsy:

37
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

Sources:
51PubMed
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Articles related to Juvenile Myoclonic Epilepsy:

(show top 50)    (show all 364)
idTitleAuthorsYear
1
Neurophysiology of juvenile myoclonic epilepsy. (23756477)
2013
2
The quest for juvenile myoclonic epilepsy genes. (23756480)
2013
3
Comment: A reappraisal of juvenile myoclonic epilepsy. (24212386)
2013
4
A randomized open-label observational study to compare the efficacy and tolerability between topiramate and valproate in juvenile myoclonic epilepsy. (23673144)
2013
5
Corticospinal excitability in juvenile myoclonic epilepsy: The story so far. (23932435)
2013
6
Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy. (24090771)
2013
7
The history of juvenile myoclonic epilepsy. (23756475)
2013
8
Classification of juvenile myoclonic epilepsy data acquired through scanning electromyography with machine learning algorithms. (21681512)
2012
9
Efficacy of paroxetine in primary palmoplantar hyperhidrosis occurring with juvenile myoclonic epilepsy. (21876340)
2011
10
Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (20141545)
2010
11
A locus for juvenile myoclonic epilepsy maps to 2q33-q36. (20467754)
2010
12
Evidence that juvenile myoclonic epilepsy is a disorder of frontotemporal corticothalamic networks. (19679190)
2010
13
Provocative and inhibitory effects of a video-EEG neuropsychologic protocol in juvenile myoclonic epilepsy. (19453714)
2009
14
Personality traits related to juvenile myoclonic epilepsy: MRI reveals prefrontal abnormalities through a voxel-based morphometry study. (19303459)
2009
15
Evaluation of cognition, structural, and functional MRI in juvenile myoclonic epilepsy. (19490045)
2009
16
Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy. (19064879)
2008
17
Myoclonic seizures subside in the fourth decade in juvenile myoclonic epilepsy. (18505992)
2008
18
Effects of levetiracetam on EEG abnormalities in juvenile myoclonic epilepsy. (18266754)
2008
19
Psychiatric comorbidity in epilepsy: a study comparing patients with mesial temporal sclerosis and juvenile myoclonic epilepsy. (18313989)
2008
20
Treatment of myoclonic seizures in patients with juvenile myoclonic epilepsy. (19300607)
2007
21
Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy. (16572395)
2006
22
Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy. (16495091)
2006
23
Homeostatic effects of plasma valproate levels on corticospinal excitability changes induced by 1Hz rTMS in patients with juvenile myoclonic epilepsy. (16644277)
2006
24
Topiramate for the treatment of juvenile myoclonic epilepsy. (16258645)
2005
25
Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. (16029191)
2005
26
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? (15201194)
2004
27
Lamotrigine for patients with juvenile myoclonic epilepsy following prior treatment with valproate: results of an open-label study. (15256187)
2004
28
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. (14582146)
2003
29
Decreased motor unit number estimates in juvenile myoclonic epilepsy. (11997730)
2002
30
Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients. (11231034)
2001
31
Clinical factors of drug resistance in juvenile myoclonic epilepsy. (11160477)
2001
32
Juvenile myoclonic epilepsy: clinical and EEG features. (9531431)
1998
33
Clinical observations of juvenile myoclonic epilepsy in 131 patients: a study in South India. (9548225)
1998
34
Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes. (9129713)
1997
35
A special kind of anterior horn cell involvement in juvenile myoclonic epilepsy demonstrated by macro electromyography. (9040651)
1997
36
Thyroxine exacerbates absence seizures in juvenile myoclonic epilepsy. (8757055)
1996
37
A study of the association between Japanese juvenile myoclonic epilepsy patients and HLA class II antigens. (8612178)
1995
38
Juvenile myoclonic epilepsy. (8087714)
1994
39
Juvenile myoclonic epilepsy in association with nonprogressive mental subnormality. (17586908)
1994
40
Evolution of childhood absence epilepsy, juvenile myoclonic epilepsy and epilepsy with grand mal on awakening. (8184687)
1994
41
Juvenile myoclonic epilepsy--a report of 11 patients at the University Hospital, Kuala Lumpur. (8153678)
1993
42
Juvenile myoclonic epilepsy. A review. (8503795)
1993
43
Sleep microstructure and EEG epileptiform activity in patients with juvenile myoclonic epilepsy. (1396419)
1992
44
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. (1922810)
1991
45
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. (1901452)
1991
46
Eye closure sensitivity without photosensitivity in juvenile myoclonic epilepsy: polysomnographic study of electroencephalographic epileptiform discharge rates. (1915176)
1991
47
Juvenile myoclonic epilepsy: long-term response to therapy. (2506007)
1989
48
Clonazepam in juvenile myoclonic epilepsy. (2507306)
1989
49
Benign juvenile myoclonic epilepsy. (3117071)
1987
50
Mapping genes in juvenile myoclonic epilepsy. (2889252)
1987

Genetic Variations for Juvenile Myoclonic Epilepsy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Juvenile Myoclonic Epilepsy:

63
id Symbol AA change Variation SNP ID
1EFHC1p.Pro77ThrVAR_023619rs149055334
2EFHC1p.Asp210AsnVAR_023622
3EFHC1p.Arg221HisVAR_023623rs79761183
4EFHC1p.Asp253TyrVAR_023625
5EFHC1p.Arg353TrpVAR_043157

Expression for genes affiliated with Juvenile Myoclonic Epilepsy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
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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

Sources:
11DrugBank, 29IUPHAR, 60Tocris Bioscience, 45Novoseek, 24HMDB, 50PharmGKB
See all sources

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
3thip2910.7GABRA1, GABRD
4Butalbital1110.7CHRNA7, GABRA1
5Heptabarbital1110.7CHRNA7, GABRA1
6Metharbital1110.7CHRNA7, GABRA1
7Talbutal1110.7CHRNA7, GABRA1
8methyllycaconitine citrate6010.7CHRFAM7A, CHRNA7
9Butethal1110.7GABRA1, CHRNA7
10ns 17386010.7CHRNA7, CHRFAM7A
11pnu 2829876010.7CHRNA7, CHRFAM7A
12Aprobarbital1110.7CHRNA7, GABRA1
13pnu 1205966010.7CHRNA7, CHRFAM7A
14epibatidine45 1111.7CHRFAM7A, CHRNA7
15Barbital1110.7CHRNA7, GABRA1
16Cinolazepam1110.7GABRA1, GABRD
17Butabarbital1110.7CHRNA7, GABRA1
18alpha-bungarotoxin45 6011.7CHRNA7, CHRFAM7A
19Halazepam1110.7GABRA1, GABRD
20Methylphenobarbital1110.7GABRA1, CHRNA7
21amobarbital45 1111.7GABRA1, CHRNA7
22Fludiazepam1110.7GABRA1, GABRD
23Secobarbital1110.6CHRNA7, GABRA1
24(+)-bicuculline6010.6GABRD, GABRA1
25(-)-bicuculline methochloride6010.6GABRD, GABRA1
26(-)-bicuculline methiodide6010.6GABRD, GABRA1
27sr 95531 hydrobromide6010.6GABRD, GABRA1
28Prazepam1110.6GABRD, GABRA1
29Adinazolam1110.6GABRD, GABRA1
30zn2+2910.6GABRA1, CLCN2
31estazolam45 1111.6GABRD, GABRA1
32primidone45 1111.6GABRA1, CHRNA7
33quazepam45 1111.6GABRD, GABRA1
34hexobarbital45 1111.6GABRA1, CHRNA7
35Clotiazepam1110.6GABRD, GABRA1
36bicuculline45 2911.5GABRA1, CHRNA7
37Clorazepate1110.5GABRA1, GABRD
38thiopental45 1111.5GABRA1, CHRNA7
39pentobarbital45 1111.5CHRNA7, GABRA1
40bromazepam45 1111.5GABRD, GABRA1
41nitrazepam45 1111.5GABRD, GABRA1
42chlorine45 2411.5CLCN2, GABRA1, GABRD
43Temazepam1110.4GABRD, GABRA1
44lorazepam45 50 1112.4GABRD, GABRA1
45flurazepam45 1111.4GABRD, GABRA1
46oxazepam50 1111.3GABRD, GABRA1
47clobazam45 50 1112.3GABRD, GABRA1
48tbps45 2911.3GABRA1, GABRD
49chlordiazepoxide45 1111.2GABRD, GABRA1
50clonazepam45 1111.0GABRA1, GABRD

GO Terms for genes affiliated with Juvenile Myoclonic Epilepsy

Sources:
16Gene Ontology
See all sources

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:0072689.6KCNA6, CACNB4, GABRD, GABRA1, CHRNA7, GJD2
3transportGO:0068109.6SLC25A27, CACNB4, GABRD, GABRA1, CLCN2

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet