EJM
MCID: JVN005
MIFTS: 71

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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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 based summary: Juvenile Myoclonic Epilepsy, also known as janz syndrome, is related to childhood absence epilepsy and focal epilepsy, and has symptoms including 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 Activation of Nicotinic Acetylcholine Receptors. 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 reproductive system and immune system.

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

Descriptions from OMIM:46 254770, 607631, 604827, 607628, 607682 608816, 611136, 611364, 613060, 614280 more

Aliases & Classifications for Juvenile Myoclonic Epilepsy

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Juvenile Myoclonic Epilepsy, Aliases & Descriptions:

Name: Juvenile Myoclonic Epilepsy 8 42 20 22 21 48
Janz Syndrome 8 42 21
Juvenile Myoclonus Epilepsy 48 62
Petit Mal, Impulsive 42 21
Jme 42 48
Myoclonic Epilepsy, Juvenile, 1 42
Myoclonic Epilepsy, Juvenile 1 46
 
Myoclonic Epilepsy, Adolescent 62
Adolescent Myoclonic Epilepsy 21
Epilepsy, Juvenile Myoclonic 46
Myoclonic Epilepsy, Juvenile 62
Myoclonic Epilepsy Juvenile 44
Ejm 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
juvenile myoclonic epilepsy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adolescence / Young adulthood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:4890
MeSH34 D020190
NCIt39 C84796
SNOMED-CT57 6204001
MESH via Orphanet35 D020190
ICD10 via Orphanet26 G40.3
UMLS via Orphanet63 C0270853

Related Diseases for Juvenile Myoclonic Epilepsy

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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 46)
idRelated DiseaseScoreTop Affiliating Genes
1childhood absence epilepsy31.3CHRNA4, GABRA1
2focal epilepsy31.0CHRNA4
3idiopathic generalized epilepsy30.9KCNQ3, EFHC1, CHRNA4
4juvenile absence epilepsy30.8CLCN2, EFHC1, GABRA1
5frontal lobe epilepsy30.3KCNQ3, CHRNA4
6febrile seizures30.2CHRNA4, KCNQ3
7epilepsy syndrome30.1KCNQ3, CLCN2, CHRNA4, CACNB4, GABRA1
8status epilepticus10.6
9temporal lobe epilepsy10.4
10cerebritis10.4
11autosomal recessive disease10.4
12migraine10.4
13personality disorder10.4
14gabra1-related juvenile myoclonic epilepsy10.4
15cacnb4-related juvenile myoclonic epilepsy10.4
16clcn2-related juvenile myoclonic epilepsy10.4
17gabrd-related juvenile myoclonic epilepsy10.4
18efhc1-related juvenile myoclonic epilepsy10.4
19ejm2-related juvenile myoclonic epilepsy10.4
20ejm3-related juvenile myoclonic epilepsy10.4
21ejm4-related juvenile myoclonic epilepsy10.4
22headache10.4
23epilepsy, juvenile myoclonic, susceptiblity to, 910.4
24myoclonic epilepsy, juvenile, 410.4
25epilepsy, juvenile myoclonic 510.4
26epilepsy, juvenile myoclonic 310.4
27myoclonus epilepsy10.4
28dravet syndrome10.4GABRD
29west syndrome10.2
30insulinoma10.2
31multiple sclerosis10.2
32velocardiofacial syndrome10.2
33graves' disease10.2
34neuronitis10.2
35benign epilepsy with centrotemporal spikes10.2
36cranial nerve palsy10.2
37agenesis of the corpus callosum10.2
38photosensitive epilepsy10.2
39myoclonus10.2
40epilepsy, generalized, with febrile seizures plus, type 510.2
41epilepsy, juvenile myoclonic 610.2
42epilepsy, juvenile myoclonic 810.2
43attention deficit hyperactivity disorder10.2CHRNA7, CHRNA4
44episodic ataxia10.1CACNB4, KCNQ3
45nicotine dependence10.0CHRNA7, CHRNA4
46convulsions benign familial neonatal dominant form10.0CHRNA4, KCNQ3

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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Symptoms by clinical synopsis from OMIM:

254770

Clinical features from OMIM:

254770,607631,604827,607628,607682,608816,611136,611364,613060,614280

HPO human phenotypes related to Juvenile Myoclonic Epilepsy:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 generalized tonic-clonic seizures HP:0002069
4 absence seizures HP:0002121
5 status epilepticus HP:0002133
6 morning myoclonic jerks HP:0007000
7 eeg with generalized polyspikes HP:0012001

Drugs & Therapeutics for Juvenile Myoclonic Epilepsy

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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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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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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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MGI Mouse Phenotypes related to Juvenile Myoclonic Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6CLCN2, CHRNA7, MEP1A, CACNB4, GABRD, GABRA1
2MP:00053877.6BRD2, CHRNA4, CHRNA7, MEP1A, CACNB4, TAP1
3MP:00053977.3CLCN2, CHRNA4, CHRNA7, MEP1A, CACNB4, GSTA3
4MP:00053867.2GABRA1, KCNQ3, CLCN2, BRD2, EFHC1, CHRNA4
5MP:00107687.1KCNQ3, BRD2, CHRNA4, CHRNA7, CACNB4, GSTA3
6MP:00036316.9EFHC1, BRD2, CLCN2, KCNQ3, CHRNA4, CHRNA7
7MP:00053766.9CHRNA4, BRD2, CLCN2, KCNQ3, CHRNA7, MEP1A

Publications for Juvenile Myoclonic Epilepsy

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Articles related to Juvenile Myoclonic Epilepsy:

(show top 50)    (show all 378)
idTitleAuthorsYear
1
Juvenile myoclonic epilepsy-what does the future look like? (24940162)
2014
2
Neuropsychology and behavior in juvenile myoclonic epilepsy. (23756486)
2013
3
Juvenile myoclonic epilepsy. (23756472)
2013
4
Juvenile myoclonic epilepsy: Clinical characteristics, standard and quantitative electroencephalography analyses. (24082923)
2013
5
Risk-taking behavior in juvenile myoclonic epilepsy. (24138327)
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
GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy. (21887291)
2011
9
Hippocampal metabolic dysfunction in juvenile myoclonic epilepsy: 3D multivoxel spectroscopy study. (21420103)
2011
10
Understanding juvenile myoclonic epilepsy: Contributions from neuroimaging. (21482074)
2011
11
Motor system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study. (21616969)
2011
12
Fronto-polar epilepsy masquerading as juvenile myoclonic epilepsy. (21865125)
2011
13
Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (20141545)
2010
14
Treatment of juvenile myoclonic epilepsy. (18684236)
2008
15
A frontal assault on the generalized nature of juvenile myoclonic epilepsy. (19127308)
2008
16
Levetiracetam monotherapy in juvenile myoclonic epilepsy. (17692537)
2008
17
Analysis of background EEG activity in patients with juvenile myoclonic epilepsy. (18282771)
2008
18
Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy. (19064879)
2008
19
Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy. (18463366)
2008
20
Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy. (17507253)
2007
21
Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study. (17972043)
2007
22
Proton magnetic resonance spectroscopy study of bilateral thalamus in juvenile myoclonic epilepsy. (17391993)
2007
23
Juvenile myoclonic epilepsy starting in the eighth decade. (17884761)
2007
24
Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy. (16414227)
2006
25
The treatment of juvenile myoclonic epilepsy. (16784408)
2006
26
Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy? (16567323)
2006
27
Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy. (16572395)
2006
28
Psychiatric comorbidity in juvenile myoclonic epilepsy. (17201708)
2006
29
Genetics of juvenile myoclonic epilepsy: faulty components and faulty wiring? (15508927)
2005
30
Topiramate for the treatment of juvenile myoclonic epilepsy. (16258645)
2005
31
Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population. (12928862)
2003
32
Thalamic dysfunction in juvenile myoclonic epilepsy: a proton MRS study. (14636347)
2003
33
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. (11992121)
2002
34
Psychogenic seizures mimicking juvenile myoclonic epilepsy: case reports. (11437621)
2001
35
Effect of sodium valproate on somatosensory evoked potentials in juvenile myoclonic epilepsy. (12166512)
2001
36
A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein. (11676489)
2001
37
Is it juvenile myoclonic epilepsy? (10937168)
2000
38
Juvenile myoclonic epilepsy: clinical and EEG features. (9531431)
1998
39
Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes. (9129713)
1997
40
A special kind of anterior horn cell involvement in juvenile myoclonic epilepsy demonstrated by macro electromyography. (9040651)
1997
41
Anterior horn cells might be subclinically affected in juvenile myoclonic epilepsy (JME) (7614932)
1995
42
Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. (8156947)
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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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

Clinvar genetic disease variations for Juvenile Myoclonic Epilepsy:

6
id Gene Name Type Significance SNP ID Assembly Location
1GABRA1NC_000005.10insertionrisk factorNCBI36Chr 5, 161897090: 161897091
2GABRA1NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn)single nucleotide variantrisk factorGRCh38Chr 5, 161882653: 161882653
3GABRA1NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp)single nucleotide variantrisk factorrs121434579GRCh37Chr 5, 161322780: 161322780
4GABRA1GABRA1, 1-BP DEL, 975Cdeletionrisk factor
5CACNB4NM_000726.3(CACNB4): c.311G> T (p.Cys104Phe)single nucleotide variantPathogenicrs1805031GRCh37Chr 2, 152737393: 152737393
6CLCN2NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln)single nucleotide variantrisk factorrs137852682GRCh37Chr 3, 184071575: 184071575

Expression for genes affiliated with Juvenile Myoclonic Epilepsy

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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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Pathways related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0GABRA1, GABRD
2
Show member pathways
9.7CHRNA7, CHRNA4
39.4GABRA1, CHRNA7, CHRNA4
49.4KCNJ3, KCNQ3
59.2CHRNA4, CHRNA7, GABRD, GABRA1
6
Show member pathways
9.2GABRA1, GABRD, CHRNA7, CHRNA4
79.2KCNQ3, KCNJ3, CACNB4
8
Show member pathways
8.1KCNQ3, KCNJ3, CHRNA4, CHRNA7, GABRD, GABRA1
9
Show member pathways
7.8GABRA1, GJD2, CACNB4, CHRNA7, CHRNA4, KCNJ3

Compounds for genes affiliated with Juvenile Myoclonic Epilepsy

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Compounds related to Juvenile Myoclonic Epilepsy according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1thip2810.4GABRA1, GABRD
2(+)-bicuculline6110.4GABRD, GABRA1
3(-)-bicuculline methochloride6110.4GABRD, GABRA1
4(-)-bicuculline methiodide6110.4GABRD, GABRA1
5sr 95531 hydrobromide6110.4GABRD, GABRA1
6estazolam44 1111.4GABRD, GABRA1
7quazepam44 1111.4GABRD, GABRA1
8zn2+2810.3GABRA1, CLCN2
9nitrazepam44 1111.3GABRD, GABRA1
10bromazepam44 1111.3GABRD, GABRA1
11flurazepam44 1111.3GABRD, GABRA1
12lorazepam44 50 1112.3GABRD, GABRA1
13chlordiazepoxide44 1111.3GABRA1, GABRD
14oxazepam50 1111.3GABRA1, GABRD
15bicuculline44 2811.3GABRA1, CHRNA7
16clonazepam44 1111.2GABRD, GABRA1
17tbps44 2811.2GABRD, GABRA1
18muscimol44 61 2812.2GABRA1, GABRD
19chlorine44 2411.2CLCN2, GABRD, GABRA1
20picrotoxin44 28 1112.1GABRD, GABRA1
21triazolam44 1111.1GABRD, GABRA1
22ly2087101 2810.1CHRNA4, CHRNA7
23ns1738 2810.1CHRNA4, CHRNA7
24a-867744 2810.1CHRNA4, CHRNA7
25[3h]epibatidine2810.1CHRNA4, CHRNA7
26varenicline44 1111.1CHRNA7, CHRNA4
27mecamylamine44 28 1112.1CHRNA7, CHRNA4
28clobazam44 50 1112.0GABRD, GABRA1
29Gamma-Aminobutyric acid2410.0GABRA1, GABRD
30galantamine44 50 1112.0CHRNA7, CHRNA4
31alprazolam44 1110.9GABRD, GABRA1
32amobarbital44 1110.9GABRA1, CHRNA7, CHRNA4
33primidone44 1110.9CHRNA4, CHRNA7, GABRA1
34hexobarbital44 1110.8GABRA1, CHRNA7, CHRNA4
35thiopental44 1110.8CHRNA4, CHRNA7, GABRA1
36pentobarbital44 1110.8GABRA1, CHRNA7, CHRNA4
37phenobarbital44 28 50 1112.8CHRNA4, CHRNA7, GABRA1
38pip2289.8KCNJ3, KCNQ3
39gaba449.3GABRA1, GJD2, CHRNA7
40acetylcholine44 50 28 24 1113.0KCNQ3, KCNJ3, CHRNA4, CHRNA7
41dopamine44 28 24 1111.8GJD2, CHRNA7, CHRNA4, KCNJ3

GO Terms for genes affiliated with Juvenile Myoclonic Epilepsy

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

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347079.8CLCN2, GABRD, GABRA1
2acetylcholine-gated channel complexGO:0058929.6CHRNA4, CHRNA7
3neuronal cell bodyGO:0430259.5CHRNA7, CHRNA4, EFHC1
4postsynaptic membraneGO:0452119.3GABRA1, GABRD, CHRNA7, CHRNA4
5cell junctionGO:0300549.2GABRA1, GABRD, CHRNA7, CHRNA4
6external side of plasma membraneGO:0098978.5CHRNA7, CHRNA4, KCNJ3
7plasma membraneGO:0058866.6TAP1, KCNQ3, KCNJ3, CLCN2, CHRNA4, CHRNA7

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:00721410.1CACNB4, GABRA1
2behavioral response to nicotineGO:0350959.9CHRNA7, CHRNA4
3membrane depolarizationGO:0518999.8CHRNA4, CACNB4
4synaptic transmission, cholinergicGO:0072719.8CHRNA7, CHRNA4
5action potentialGO:0015089.8GJD2, CHRNA4
6transportGO:0068109.8CLCN2, CACNB4, GABRD, GABRA1
7cognitionGO:0508909.7CHRNA7, CHRNA4
8B cell activationGO:0421139.7CHRNA7, CHRNA4
9response to nicotineGO:0350949.6CHRNA4, CHRNA7
10ion transmembrane transportGO:0342209.2GABRA1, CHRNA4, CLCN2
11transmembrane transportGO:0550858.8CLCN2, RHAG, GJD2, GABRA1, TAP1
12synaptic transmissionGO:0072687.8GABRA1, KCNQ3, KCNJ3, CHRNA4, CHRNA7, CACNB4

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

idNameGO IDScoreTop Affiliating Genes
1extracellular ligand-gated ion channel activityGO:00523010.0GABRA1, GABRD
2GABA-A receptor activityGO:0048909.7GABRA1, GABRD
3acetylcholine bindingGO:0421669.7CHRNA7, CHRNA4
4acetylcholine receptor activityGO:0154649.7CHRNA7, CHRNA4
5acetylcholine-activated cation-selective channel activityGO:0048899.6CHRNA4, CHRNA7

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet