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EJM
MCID: EPL198
MIFTS: 62

Epilepsy, Myoclonic Juvenile (EJM)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Epilepsy, Myoclonic Juvenile

About this section

MalaCards integrated aliases for Epilepsy, Myoclonic Juvenile:

Name: Epilepsy, Myoclonic Juvenile 57
Juvenile Myoclonic Epilepsy 12 75 53 25 59 37 29 6 15
Janz Syndrome 57 12 53 25 74
Jme 57 53 59 74
Myoclonic Epilepsy, Juvenile 57 44 72
Petit Mal, Impulsive 57 53 25
Ejm 57 53 17
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 57 13
Myoclonic Epilepsy, Juvenile 1 57 6
Susceptibility to Juvenile Myoclonic Epilepsy 1 74
Myoclonic Epilepsy, Juvenile; Jme 57
Myoclonic Epilepsy, Juvenile, 1 53
Adolescent Myoclonic Epilepsy 25
Juvenile Myoclonic Epilepsy 1 74
Epilepsy, Myoclonic, Juvenile 40
Juvenile Myoclonus Epilepsy 59
Myoclonic Epilepsy Juvenile 55
Petit Mal Impulsive 74
Ejm1 74

Characteristics:

Orphanet epidemiological data:

59
juvenile myoclonic epilepsy
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean age at onset is 10.4 years
seizures tend to occur upon awakening
seizures precipitated by fatigue or alcohol
approximately one-third of patients become seizure-free with age


HPO:

32
epilepsy, myoclonic juvenile:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4890
OMIM 57 254770
KEGG 37 H02217
MeSH 44 D020190
NCIt 50 C84796
SNOMED-CT 68 6204001
MESH via Orphanet 45 D020190
ICD10 via Orphanet 34 G40.3
UMLS via Orphanet 73 C0270853
Orphanet 59 ORPHA307
UMLS 72 C0270853
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Summaries for Epilepsy, Myoclonic Juvenile

About this section
Genetics Home Reference : 25 Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, 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, stress, or alcohol consumption.

MalaCards based summary : Epilepsy, Myoclonic Juvenile, also known as juvenile myoclonic epilepsy, is related to epilepsy, idiopathic generalized and febrile seizures, and has symptoms including myoclonus and absence seizures. An important gene associated with Epilepsy, Myoclonic Juvenile is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and GABAergic synapse. The drugs Dopamine and Apomorphine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and temporal lobe, and related phenotypes are eeg with polyspike wave complexes and morning myoclonic jerks

Disease Ontology : 12 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 : 53 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. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The causes of juvenile myoclonic epilepsy are very complex and not completely understood. Mutations in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.

OMIM : 57 Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks occur usually in the morning (Janz and Durner, 1997). (254770)

KEGG : 37
Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks, predominantly in the arms. No disturbance of consciousness is noticeable. Response to appropriate drugs is good.

UniProtKB/Swiss-Prot : 74 Juvenile myoclonic epilepsy 1: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

Wikipedia : 75 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of generalized... more...

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Related Diseases for Epilepsy, Myoclonic Juvenile

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Diseases in the Epilepsy, Myoclonic Juvenile family:

Epilepsy, Familial Adult Myoclonic, 1 Myoclonic Epilepsy, Familial Infantile
Epilepsy, Familial Adult Myoclonic, 2 Myoclonic Epilepsy, Juvenile 3
Myoclonic Epilepsy, Juvenile 4 Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Progressive Myoclonic, 6
Epilepsy, Juvenile Myoclonic 9 Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Progressive Myoclonic 7
Epilepsy, Progressive Myoclonic, 8 Epilepsy, Progressive Myoclonic, 9
Epilepsy, Progressive Myoclonic, 10 Epilepsy, Juvenile Myoclonic 10
Epilepsy, Familial Adult Myoclonic, 6 Epilepsy, Familial Adult Myoclonic, 7
Epilepsy Progressive Myoclonic Type 3 Myoclonic Epilepsy of Infancy
Benign Adult Familial Myoclonic Epilepsy

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

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 31.3 SCN1A ME2 KCNQ3 KCNA1 GABRG2 GABRD
2 febrile seizures 31.3 SCN1A GABRG2 GABRD CHRNA4
3 epilepsy with generalized tonic-clonic seizures 31.1 SCN1A PAQR8 EFHC1
4 juvenile absence epilepsy 31.0 GABRA1 EFHC1 CLCN2
5 benign epilepsy with centrotemporal spikes 31.0 SLC12A6 KCNQ3 GABRG2
6 epilepsy 30.9 SCN1A KCNQ3 JRK ICK GABRG2 GABRD
7 focal epilepsy 30.9 SCN1A KCNA1 GABRG2 GABRD CHRNA4
8 epilepsy, nocturnal frontal lobe, 1 30.6 SCN1A KCNQ3 KCNA1 GABRG2 CHRNA4
9 epilepsy, idiopathic generalized 10 30.6 SLC12A6 SCN1A PAQR8 ME2 KCNQ3 KCNA1
10 unverricht-lundborg syndrome 30.6 KCNQ3 EFHC1
11 generalized epilepsy with febrile seizures plus 30.6 SCN1A ME2 KCNQ3 GABRG2 GABRD
12 childhood absence epilepsy 30.4 ME2 JRK GABRG2 GABRA1 GABBR1 EFHC1
13 myoclonic epilepsy, juvenile 3 12.7
14 myoclonic epilepsy, juvenile 4 12.5
15 epilepsy, juvenile myoclonic 10 12.4
16 epilepsy, juvenile myoclonic 9 12.2
17 photoparoxysmal response 1 11.4
18 epilepsy, idiopathic generalized 11 11.2
19 epilepsy, idiopathic generalized 9 11.2
20 epilepsy, idiopathic generalized 13 11.2
21 early myoclonic encephalopathy 10.9
22 myoclonic epilepsy of infancy 10.7 SCN1A GABRG2
23 agenesis of the corpus callosum with peripheral neuropathy 10.6 SLC12A6 CLCN2
24 episodic ataxia, type 2 10.6 KCNA1 CACNB4
25 lennox-gastaut syndrome 10.6 SCN1A GABRG2 GABRA1
26 childhood electroclinical syndrome 10.6 KCNQ3 GABRG2 GABRA1 EFHC1
27 temporal lobe epilepsy 10.6
28 benign neonatal seizures 10.5 KCNQ3 KCNA1
29 avoidant personality disorder 10.5
30 episodic ataxia, type 1 10.5 KCNA1 CACNB4
31 visual epilepsy 10.5
32 severe combined immunodeficiency 10.5
33 seizure disorder 10.5
34 epileptic encephalopathy, early infantile, 6 10.4 SCN1A KCNQ3 GABRG2 GABRD GABRA1
35 seizures, benign familial infantile, 3 10.4 SCN1A KCNQ3 KCNA1 GABRG2 CHRNA4
36 infancy electroclinical syndrome 10.4 SCN1A GABRG2
37 migraine with or without aura 1 10.4
38 ataxia and polyneuropathy, adult-onset 10.4
39 sleep disorder 10.4
40 anxiety 10.3
41 mood disorder 10.3
42 myeloma, multiple 10.3
43 immunoglobulin e concentration, serum 10.3
44 attention deficit-hyperactivity disorder 10.2
45 migraine with aura 10.2
46 alcohol use disorder 10.2
47 muscular atrophy 10.2
48 myoclonus 10.2
49 adolescence-adult electroclinical syndrome 10.2 SCN1A GABRG2 GABRD GABRA1 EFHC1 CLCN2
50 hand skill, relative 10.2

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



Diseases related to Epilepsy, Myoclonic Juvenile
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Symptoms & Phenotypes for Epilepsy, Myoclonic Juvenile

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Human phenotypes related to Epilepsy, Myoclonic Juvenile:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with polyspike wave complexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0002392
2 morning myoclonic jerks 59 32 hallmark (90%) Very frequent (99-80%) HP:0007000
3 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
4 abnormality of the mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000153
5 absence seizure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002121
6 febrile seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002373
7 photosensitive tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0007207
8 aggressive behavior 59 32 very rare (1%) Very rare (<4-1%) HP:0000718
9 status epilepticus 59 32 very rare (1%) Very rare (<4-1%) HP:0002133
10 intellectual disability 59 Excluded (0%)
11 generalized tonic-clonic seizures 32 HP:0002069
12 generalized-onset seizure 59 Very frequent (99-80%)
13 eeg with generalized polyspikes 32 HP:0012001

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
generalized tonic-clonic seizures
absence seizures
normal intelligence
myoclonic jerks
photosensitivity in one-third of patients
more

Clinical features from OMIM:

254770

UMLS symptoms related to Epilepsy, Myoclonic Juvenile:


myoclonus, absence seizures

MGI Mouse Phenotypes related to Epilepsy, Myoclonic Juvenile:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1
2 nervous system MP:0003631 9.8 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1
3 hearing/vestibular/ear MP:0005377 9.63 BRD2 CACNB4 GABRA1 GABRD KCNA1 SLC12A6
4 reproductive system MP:0005389 9.23 CACNB4 CLCN2 GABBR1 GABRA1 GABRD GABRG2
Sources

Drugs & Therapeutics for Epilepsy, Myoclonic Juvenile

About this section

Drugs for Epilepsy, Myoclonic Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Apomorphine Approved, Investigational 41372-20-7, 58-00-4 6005
3 Sympathomimetics
4 Neurotransmitter Agents
5 Cardiotonic Agents
6 Gastrointestinal Agents
7 Dopamine Agents
8 Peripheral Nervous System Agents
9 Dopamine agonists
10 Protective Agents
11 Autonomic Agents
12 Emetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Aged 15-50: A Randomized Controlled Trial Unknown status NCT01450423 Phase 2
2 Dopaminergic Reactivity In Idiopathic Generalized Epilepsy: A "Proof Of Concept" Clinical, Pharmacological And Neurophysiological Study Completed NCT01432821
3 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371

Search NIH Clinical Center for Epilepsy, Myoclonic Juvenile

Cochrane evidence based reviews: myoclonic epilepsy, juvenile

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Genetic Tests for Epilepsy, Myoclonic Juvenile

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Genetic tests related to Epilepsy, Myoclonic Juvenile:

# Genetic test Affiliating Genes
1 Juvenile Myoclonic Epilepsy 29 EFHC1
Sources

Anatomical Context for Epilepsy, Myoclonic Juvenile

About this section

MalaCards organs/tissues related to Epilepsy, Myoclonic Juvenile:

41
Brain, Eye, Temporal Lobe, Cortex, Thalamus, Testes, Heart
Sources

Publications for Epilepsy, Myoclonic Juvenile

About this section

Articles related to Epilepsy, Myoclonic Juvenile:

(show top 50) (show all 1104)
# Title Authors PMID Year
1
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. 38 8 71
18505993 2008
2
Mutations in EFHC1 cause juvenile myoclonic epilepsy. 38 8 71
15258581 2004
3
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. 38 8 71
12439895 2002
4
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 38 8 71
11992121 2002
5
Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. 38 8 71
8737649 1996
6
GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. 38 71
20551311 2010
7
Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study. 38 8
19786695 2009
8
Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy. 38 8
18463366 2008
9
Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. 38 71
18534981 2008
10
Regional reductions in serotonin 1A receptor binding in juvenile myoclonic epilepsy. 38 8
15956165 2005
11
Genetic influences on myoclonic and absence seizures. 38 8
14663045 2003
12
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 38 71
12612585 2003
13
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 38 71
10762541 2000
14
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. 38 8
8751867 1996
15
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. 38 8
7668263 1995
16
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1". 38 8
7654068 1995
17
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. 38 8
8352275 1993
18
Delayed diagnosis of juvenile myoclonic epilepsy. 38 8
1619419 1992
19
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. 38 8
1922810 1991
20
Juvenile myoclonic epilepsy: an autosomal recessive disease. 38 8
2505665 1989
21
Juvenile myoclonic epilepsy: characteristics of a primary generalized epilepsy. 38 8
2506006 1989
22
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 71
21714819 2011
23
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
24
CLCN2 variants in idiopathic generalized epilepsy. 71
19710712 2009
25
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 71
19191339 2009
26
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. 71
17159113 2006
27
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 71
16718694 2006
28
Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies. 71
15252188 2004
29
Evidence for familial association of psychiatric disorders and epilepsy. 8
7803604 1994
30
Mutations in GABAA receptor subunits associated with genetic epilepsies. 9 38
20308251 2010
31
Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. 9 38
20338729 2010
32
BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. 9 38
19953286 2010
33
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 9 38
19577488 2009
34
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 9 38
17634063 2007
35
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. 9 38
16839746 2006
36
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families. 9 38
17054699 2006
37
Some genetic and biochemical aspects of myoclonus. 9 38
17336771 2006
38
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. 9 38
16824517 2006
39
A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. 9 38
16112844 2005
40
[Episodic ataxias]. 9 38
16100538 2005
41
Seizures of idiopathic generalized epilepsies. 9 38
16302874 2005
42
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 9 38
14582146 2003
43
BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. 9 38
12830434 2003
44
Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. 9 38
14631097 2003
45
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. 9 38
12610651 2003
46
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 9 38
11254445 2001
47
Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1). 9 38
11223165 2001
48
Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. 9 38
10402495 1999
49
Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. 9 38
10187864 1999
50
Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. 9 38
9933300 1998
Sources

Variations for Epilepsy, Myoclonic Juvenile

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ClinVar genetic disease variations for Epilepsy, Myoclonic Juvenile:

6 (show top 50) (show all 333)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EFHC1 NM_018100.4(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 6:52317540-52317540 6:52452742-52452742
2 EFHC1 NM_018100.4(EFHC1): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs796052414 6:52318995-52318995 6:52454197-52454197
3 EFHC1 NM_018100.4(EFHC1): c.757G> T (p.Asp253Tyr) single nucleotide variant risk factor rs137852778 6:52318926-52318926 6:52454128-52454128
4 EFHC1 NM_018100.4(EFHC1): c.883C> T (p.Gln295Ter) single nucleotide variant risk factor rs137852781 6:52319052-52319052 6:52454254-52454254
5 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs1805031 2:152737393-152737393 2:151880879-151880879
6 EFHC1 NM_018100.4(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 6:52317574-52317574 6:52452776-52452776
7 EFHC1 NM_018100.4(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 6:52288909-52288909 6:52424111-52424111
8 EFHC1 NM_018100.4(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs137852776 6:52317597-52317597 6:52452799-52452799
9 EFHC1 NM_018100.4(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 6:52317541-52317541 6:52452743-52452743
10 EFHC1 NM_018100.4(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 6:52355109-52355109 6:52490311-52490311
11 EFHC1 NM_018100.4(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 6:52357062-52357062 6:52492264-52492264
12 EFHC1 NM_018100.4(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 6:52288770-52288770 6:52423972-52423972
13 EFHC1 NM_018100.4(EFHC1): c.887G> A (p.Arg296His) single nucleotide variant Conflicting interpretations of pathogenicity rs115205076 6:52319056-52319056 6:52454258-52454258
14 EFHC1 NM_018100.4(EFHC1): c.64-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201860746 6:52288739-52288739 6:52423941-52423941
15 EFHC1 NM_018100.4(EFHC1): c.1587G> A (p.Ala529=) single nucleotide variant Conflicting interpretations of pathogenicity rs377227885 6:52344532-52344532 6:52479734-52479734
16 GABRA1 NM_000806.5(GABRA1): c.255+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs144727170 5:161292806-161292806 5:161865800-161865800
17 GABRA1 NM_000806.5(GABRA1): c.954C> T (p.Ala318=) single nucleotide variant Conflicting interpretations of pathogenicity rs551045474 5:161322769-161322769 5:161895763-161895763
18 GABRA1 NM_000806.5(GABRA1): c.1350A> G (p.Lys450=) single nucleotide variant Conflicting interpretations of pathogenicity rs142385746 5:161324407-161324407 5:161897401-161897401
19 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 2:152955521-152955521 2:152099007-152099007
20 EFHC1 NM_018100.4(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 6:52354972-52354972 6:52490174-52490174
21 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 2:152955482-152955482 2:152098968-152098968
22 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 2:152955518-152955518 2:152099004-152099004
23 GABRA1 NM_000806.5(GABRA1): c.-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375475234 5:161277813-161277813 5:161850807-161850807
24 EFHC1 NM_018100.4(EFHC1): c.43A> G (p.Thr15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs750899949 6:52285251-52285251 6:52420453-52420453
25 EFHC1 NM_018100.4(EFHC1): c.1557C> T (p.Asn519=) single nucleotide variant Conflicting interpretations of pathogenicity rs773385237 6:52344502-52344502 6:52479704-52479704
26 EFHC1 NM_018100.4(EFHC1): c.1612C> T (p.Arg538Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs149998588 6:52344557-52344557 6:52479759-52479759
27 EFHC1 NM_018100.4(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 6:52303363-52303363 6:52438565-52438565
28 EFHC1 NM_018100.4(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 6:52317573-52317573 6:52452775-52452775
29 EFHC1 NM_018100.4(EFHC1): c.779G> A (p.Arg260Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145754721 6:52318948-52318948 6:52454150-52454150
30 EFHC1 NM_018100.4(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 6:52329890-52329890 6:52465092-52465092
31 GABRA1 NM_000806.5(GABRA1): c.1206C> T (p.Pro402=) single nucleotide variant Conflicting interpretations of pathogenicity rs541335259 5:161324263-161324263 5:161897257-161897257
32 EFHC1 NM_018100.4(EFHC1): c.*1025_*1026AT[12] short repeat Conflicting interpretations of pathogenicity rs59794069 6:52358180-52358183 6:52493382-52493385
33 EFHC1 NM_018100.4(EFHC1) indel Uncertain significance rs886061633 6:52358184-52358184 6:52493386-52493386
34 EFHC1 NM_018100.4(EFHC1): c.346A> G (p.Arg116Gly) single nucleotide variant Uncertain significance rs886061627 6:52303162-52303162 6:52438364-52438364
35 EFHC1 NM_018100.4(EFHC1): c.1895A> G (p.Tyr632Cys) single nucleotide variant Uncertain significance rs770182350 6:52357111-52357111 6:52492313-52492313
36 EFHC1 NM_018100.4(EFHC1): c.*66C> G single nucleotide variant Uncertain significance rs574373324 6:52357205-52357205 6:52492407-52492407
37 EFHC1 NM_018100.4(EFHC1): c.559G> A (p.Asp187Asn) single nucleotide variant Uncertain significance rs148615781 6:52303375-52303375 6:52438577-52438577
38 EFHC1 NM_018100.4(EFHC1): c.666_671del (p.Lys222_Val224delinsAsn) deletion Uncertain significance rs886061628 6:52317578-52317583 6:52452780-52452785
39 EFHC1 NM_018100.4(EFHC1): c.1197T> C (p.Ala399=) single nucleotide variant Uncertain significance rs886061630 6:52334190-52334190 6:52469392-52469392
40 EFHC1 NM_018100.4(EFHC1): c.1265A> T (p.Tyr422Phe) single nucleotide variant Uncertain significance rs750259384 6:52334258-52334258 6:52469460-52469460
41 EFHC1 NM_018100.4(EFHC1): c.*549_*550TA[3] short repeat Uncertain significance rs886061631 6:52357690-52357691 6:52492892-52492893
42 EFHC1 NM_018100.4(EFHC1): c.*681G> A single nucleotide variant Uncertain significance rs560182875 6:52357820-52357820 6:52493022-52493022
43 EFHC1 NM_018100.4(EFHC1): c.*1064_*1065AC[4] short repeat Uncertain significance rs886061634 6:52358211-52358212 6:52493413-52493414
44 EFHC1 NM_018100.4(EFHC1): c.*957C> T single nucleotide variant Uncertain significance rs761411516 6:52358096-52358096 6:52493298-52493298
45 EFHC1 NM_018100.4(EFHC1): c.*1024C> T single nucleotide variant Uncertain significance rs372975445 6:52358163-52358163 6:52493365-52493365
46 EFHC1 NM_018100.4(EFHC1): c.*1576C> A single nucleotide variant Uncertain significance rs547537212 6:52358715-52358715 6:52493917-52493917
47 EFHC1 NM_018100.4(EFHC1): c.*2023T> C single nucleotide variant Uncertain significance rs886061638 6:52359162-52359162 6:52494364-52494364
48 EFHC1 NM_018100.4(EFHC1): c.*2430C> T single nucleotide variant Uncertain significance rs749445189 6:52359569-52359569 6:52494771-52494771
49 EFHC1 NM_018100.4(EFHC1): c.*1025_*1026AT[13] short repeat Uncertain significance rs59794069 6:52358178-52358183 6:52493380-52493385
50 GABRA1 NM_000806.5(GABRA1): c.856+11A> G single nucleotide variant Uncertain significance rs564871157 5:161318067-161318067 5:161891061-161891061

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

74 (show all 17)
# Symbol AA change Variation ID SNP ID
1 EFHC1 p.Pro77Thr VAR_023619 rs149055334
2 EFHC1 p.Asp210Asn VAR_023622 rs137852777
3 EFHC1 p.Arg221His VAR_023623 rs79761183
4 EFHC1 p.Asp253Tyr VAR_023625 rs137852778
5 EFHC1 p.Arg353Trp VAR_043157 rs527295360
6 EFHC1 p.Arg118Cys VAR_072108 rs764096785
7 EFHC1 p.His89Arg VAR_079772 rs543160745
8 EFHC1 p.Glu322Lys VAR_079774
9 EFHC1 p.Tyr355Cys VAR_079775 rs767833659
10 EFHC1 p.Arg372Trp VAR_079776 rs371151471
11 EFHC1 p.Lys378Glu VAR_079777
12 EFHC1 p.Arg436Cys VAR_079778 rs377286138
13 EFHC1 p.Tyr485His VAR_079779 rs779322943
14 EFHC1 p.Asn519Ser VAR_079780 rs527539103
15 EFHC1 p.Val556Leu VAR_079781 rs772265107
16 EFHC1 p.Ile619Ser VAR_079782 rs142458862
17 EFHC1 p.Tyr631Cys VAR_079783 rs574948354

Sources

Expression for Epilepsy, Myoclonic Juvenile

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

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Pathways related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 66
Show member pathways
 12.55 KCNQ3 KCNA1 GABRG2 GABRA1 GABBR1 CHRNA4
2
GABAergic synapse 37
Show member pathways
 12.14 GABRG2 GABRD GABRA1 GABBR1
3
Potassium Channels 66
Show member pathways
 11.75 KCNQ3 KCNA1 GABBR1
4
GABA receptor activation 66
Show member pathways
 11.68 GABRG2 GABRA1 GABBR1
5
Interaction between L1 and Ankyrins 66
10.91 SCN1A KCNQ3
6
Nicotine addiction 37
10.86 GABRG2 GABRD GABRA1 CHRNA4
7
Benzodiazepine Pathway, Pharmacodynamics 61
Show member pathways
 10.51 GABRG2 GABRA1
8
Synaptic Neurotransmission Pathways: GABAergic Inhibition 65
10.15 GABRG2 GABRD GABRA1 GABBR1
Sources

GO Terms for Epilepsy, Myoclonic Juvenile

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Cellular components related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.88 KCNA1 GABRG2 GABRD GABRA1 GABBR1 CHRNA4
2 synapse GO:0045202 9.85 KCNA1 GABRG2 GABRD GABRA1 GABBR1 CHRNA4
3 neuron projection GO:0043005 9.81 GABRG2 GABRD GABRA1 CHRNA4
4 integral component of plasma membrane GO:0005887 9.81 SLC12A6 KCNQ3 KCNA1 GABRG2 GABRD GABRA1
5 neuronal cell body GO:0043025 9.8 SCN1A KCNA1 EFHC1 CHRNA4
6 postsynaptic membrane GO:0045211 9.72 GABRG2 GABRD GABRA1 GABBR1 CHRNA4
7 axon initial segment GO:0043194 9.48 SCN1A KCNQ3
8 node of Ranvier GO:0033268 9.43 SCN1A KCNQ3
9 GABA-A receptor complex GO:1902711 9.43 GABRG2 GABRD GABRA1
10 GABA-ergic synapse GO:0098982 9.26 GABRG2 GABRD GABRA1 GABBR1
11 chloride channel complex GO:0034707 8.92 GABRG2 GABRD GABRA1 CLCN2
12 plasma membrane GO:0005886 10.23 SLC12A6 SCN1A PAQR8 KCNQ3 KCNA1 GABRG2

Biological processes related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SLC12A6 SCN1A KCNQ3 KCNA1 CLCN2
2 ion transmembrane transport GO:0034220 9.85 SCN1A GABRG2 GABRD GABRA1 CLCN2 CHRNA4
3 ion transport GO:0006811 9.85 SLC12A6 SCN1A KCNQ3 KCNA1 GABRG2 GABRD
4 regulation of ion transmembrane transport GO:0034765 9.83 SCN1A KCNQ3 KCNA1 CLCN2 CACNB4
5 chloride transport GO:0006821 9.76 GABRG2 GABRD GABRA1 CLCN2
6 potassium ion transport GO:0006813 9.74 SLC12A6 KCNQ3 KCNA1
7 potassium ion transmembrane transport GO:0071805 9.73 SLC12A6 KCNQ3 KCNA1
8 regulation of membrane potential GO:0042391 9.73 SCN1A KCNA1 GABRG2 GABRD GABRA1 CHRNA4
9 chloride transmembrane transport GO:1902476 9.72 SLC12A6 GABRG2 GABRD GABRA1 CLCN2
10 nervous system process GO:0050877 9.71 GABRG2 GABRD GABRA1 CHRNA4
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.65 GABRG2 GABRA1 GABBR1
12 neuronal action potential GO:0019228 9.58 SCN1A KCNA1
13 chemical synaptic transmission GO:0007268 9.56 SLC12A6 KCNQ3 KCNA1 GABRG2 GABRD GABRA1
14 membrane depolarization GO:0051899 9.55 CHRNA4 CACNB4
15 synaptic transmission, GABAergic GO:0051932 9.52 GABRG2 GABRA1
16 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.51 SCN1A KCNA1
17 cellular response to histamine GO:0071420 9.49 GABRG2 GABRA1
18 regulation of postsynaptic membrane potential GO:0060078 9.1 KCNA1 GABRG2 GABRD GABRA1 GABBR1 CHRNA4

Molecular functions related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.63 SCN1A KCNQ3 KCNA1
2 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.5 GABRG2 GABRD GABRA1
3 chloride channel activity GO:0005254 9.46 GABRG2 GABRD GABRA1 CLCN2
4 GABA-gated chloride ion channel activity GO:0022851 9.43 GABRG2 GABRA1
5 GABA-A receptor activity GO:0004890 9.43 GABRG2 GABRD GABRA1
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.4 GABRG2 GABRA1
7 benzodiazepine receptor activity GO:0008503 9.37 GABRG2 GABRA1
8 extracellular ligand-gated ion channel activity GO:0005230 9.26 GABRG2 GABRD GABRA1 CHRNA4
9 ion channel activity GO:0005216 9.1 SCN1A KCNA1 GABRG2 GABRD GABRA1 CHRNA4
Sources

Sources for Epilepsy, Myoclonic Juvenile

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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