EJM
MCID: EPL198
MIFTS: 61

Epilepsy, Myoclonic Juvenile (EJM)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Myoclonic Juvenile

MalaCards integrated aliases for Epilepsy, Myoclonic Juvenile:

Name: Epilepsy, Myoclonic Juvenile 57
Juvenile Myoclonic Epilepsy 12 73 20 43 58 36 29 6 15
Janz Syndrome 57 12 20 43 72
Jme 57 20 58 72
Myoclonic Epilepsy, Juvenile 57 44 70
Petit Mal, Impulsive 57 20 43
Ejm 57 20 17
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 57 13
Myoclonic Epilepsy, Juvenile, 1 20 6
Susceptibility to Juvenile Myoclonic Epilepsy 1 72
Myoclonic Epilepsy, Juvenile; Jme 57
Myoclonic Epilepsy, Juvenile 1 57
Adolescent Myoclonic Epilepsy 43
Juvenile Myoclonic Epilepsy 1 72
Epilepsy, Myoclonic, Juvenile 39
Juvenile Myoclonus Epilepsy 58
Myoclonic Epilepsy Juvenile 54
Petit Mal Impulsive 72
Ejm1 72

Characteristics:

Orphanet epidemiological data:

58
juvenile myoclonic epilepsy
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
epilepsy, myoclonic juvenile:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4890
OMIM® 57 254770
OMIM Phenotypic Series 57 PS254770
KEGG 36 H02217
MeSH 44 D020190
NCIt 50 C84796
SNOMED-CT 67 6204001
MESH via Orphanet 45 D020190
ICD10 via Orphanet 33 G40.3
UMLS via Orphanet 71 C0270853
Orphanet 58 ORPHA307
UMLS 70 C0270853

Summaries for Epilepsy, Myoclonic Juvenile

MedlinePlus Genetics : 43 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 juvenile absence epilepsy and epilepsy, idiopathic generalized, 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 Circadian entrainment. 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.

GARD : 20 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) (Updated 05-Apr-2021)

KEGG : 36 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 : 72 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 : 73 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of generalized... more...

Related Diseases for Epilepsy, Myoclonic Juvenile

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, 11 Epilepsy, Progressive Myoclonic, 12
Familial Adult Myoclonic Epilepsy Epilepsy Progressive Myoclonic Type 3
Myoclonic Epilepsy of Infancy

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

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 32.1 SCN1A GABRG2 GABRA1 EFHC1 CLCN2 CHRNA7
2 epilepsy, idiopathic generalized 32.0 SCN1A KCNQ3 KCNA1 JRK GABRG2 GABRD
3 focal epilepsy 31.7 SCN1A KCNA1 GABRG2 GABRD CHRNA4
4 early myoclonic encephalopathy 31.5 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRA1
5 febrile seizures 31.4 SCN1A GABRG2 GABRD
6 epilepsy 31.1 SCN1A KCNQ3 KCNA1 JRK GABRG2 GABRD
7 migraine with or without aura 1 31.1 SCN1A KCNQ3 KCNA1 CACNB4
8 epilepsy with generalized tonic-clonic seizures 31.0 SCN1A GABRG2 GABRD GABRA1 EFHC1
9 reflex epilepsy 31.0 SCN1A GABRG2 CHRNA4
10 benign epilepsy with centrotemporal spikes 30.9 SLC12A6 SCN1A KCNQ3 GABRG2 GABRD GABRA1
11 seizure disorder 30.9 SCN1A KCNQ3 GABRG2 GABRA1 CHRNA4
12 epilepsy, nocturnal frontal lobe, 1 30.7 SCN1A KCNQ3 KCNA1 GABRG2 CHRNA4
13 benign familial neonatal epilepsy 30.7 SCN1A KCNQ3 KCNA1 GABRG2 GABRA1 CHRNA4
14 west syndrome 30.7 SCN1A KCNQ3 GABRG2 GABRD GABRA1
15 generalized epilepsy with febrile seizures plus 30.7 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRA1
16 autosomal dominant nocturnal frontal lobe epilepsy 30.7 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRA1
17 autism spectrum disorder 30.6 SLC12A6 SCN1A KCNQ3 GABRG2 GABRD CHRNA7
18 unverricht-lundborg syndrome 30.6 SCN1A KCNQ3 GABRG2 EFHC1 CHRNA4
19 childhood absence epilepsy 30.4 SCN1A KCNQ3 KCNA1 JRK GRM4 GABRG2
20 epilepsy, juvenile myoclonic 10 11.7
21 epilepsy, idiopathic generalized 11 11.6
22 myoclonic epilepsy, juvenile 4 11.6
23 myoclonic epilepsy, juvenile 3 11.5
24 epilepsy, juvenile myoclonic 9 11.5
25 photoparoxysmal response 1 11.2
26 epilepsy, idiopathic generalized 10 11.1
27 epilepsy, idiopathic generalized 9 10.9
28 epilepsy, idiopathic generalized 13 10.9
29 personality disorder 10.6
30 status epilepticus 10.6
31 temporal lobe epilepsy 10.6
32 avoidant personality disorder 10.5
33 febrile seizures, familial, 2 10.5 SCN1A KCNQ3 GABRG2 EFHC1
34 episodic kinesigenic dyskinesia 1 10.5 KCNA1 GABRA1 CHRNA4 CACNB4
35 febrile seizures, familial, 11 10.5 SCN1A GABRG2 GABRD
36 febrile seizures, familial, 1 10.5 SCN1A KCNQ3 GABRG2 EFHC1 CHRNA4
37 epilepsy, familial temporal lobe, 5 10.5 SCN1A GABRG2 GABRD
38 early onset absence epilepsy 10.5 SCN1A KCNQ3 GABRG2 GABRA1 EFHC1 CHRNA4
39 childhood electroclinical syndrome 10.5 SCN1A KCNQ3 GABRG2 GABRD GABRA1 EFHC1
40 febrile seizures, familial, 8 10.5 SCN1A GABRG2 GABRD
41 developmental and epileptic encephalopathy 14 10.5 SCN1A KCNA1 CHRNA4
42 febrile seizures, familial, 4 10.5 SCN1A GABRG2 GABRD
43 lennox-gastaut syndrome 10.5 SCN1A KCNQ3 GABRG2 GABRD GABRA1
44 benign neonatal seizures 10.5 SCN1A KCNQ3 KCNA1 GABRA1 EFHC1 CHRNA4
45 generalized epilepsy with febrile seizures plus, type 2 10.5 SCN1A GABRG2 GABRD
46 photosensitive epilepsy 10.5 SCN1A KCNQ3 GRM4 GABRG2 GABRA1 EFHC1
47 neonatal period electroclinical syndrome 10.5 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRA1
48 benign familial infantile epilepsy 10.5 SCN1A KCNQ3 GABRG2 GABRA1 EFHC1 CLCN2
49 familial febrile seizures 10.5 SCN1A KCNQ3 GABRG2 GABRD EFHC1 CHRNA4
50 infancy electroclinical syndrome 10.5 SCN1A KCNQ3 GABRA1

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



Diseases related to Epilepsy, Myoclonic Juvenile

Symptoms & Phenotypes for Epilepsy, Myoclonic Juvenile

Human phenotypes related to Epilepsy, Myoclonic Juvenile:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with polyspike wave complexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0002392
2 morning myoclonic jerks 58 31 hallmark (90%) Very frequent (99-80%) HP:0007000
3 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
4 abnormality of the mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000153
5 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
6 photosensitive tonic-clonic seizure 31 occasional (7.5%) HP:0007207
7 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
8 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
9 aggressive behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000718
10 intellectual disability 58 Excluded (0%)
11 generalized-onset seizure 58 Very frequent (99-80%)
12 absence seizure 58 Occasional (29-5%)
13 febrile seizures 58 Occasional (29-5%)
14 photosensitive tonic-clonic seizures 58 Occasional (29-5%)
15 eeg with generalized polyspikes 31 HP:0012001
16 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 10.13 BRD2 CACNB4 CHRNA4 CHRNA7 CLCN2 EFHC1
2 nervous system MP:0003631 9.86 BRD2 CACNB4 CHRNA4 CHRNA7 CILK1 CLCN2
3 hearing/vestibular/ear MP:0005377 9.7 BRD2 CACNB4 CILK1 GABRA1 GABRD KCNA1
4 reproductive system MP:0005389 9.28 CACNB4 CHRNA7 CLCN2 GABBR1 GABRA1 GABRD

Drugs & Therapeutics for Epilepsy, Myoclonic Juvenile

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 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371

Search NIH Clinical Center for Epilepsy, Myoclonic Juvenile

Cochrane evidence based reviews: myoclonic epilepsy, juvenile

Genetic Tests for Epilepsy, Myoclonic Juvenile

Genetic tests related to Epilepsy, Myoclonic Juvenile:

# Genetic test Affiliating Genes
1 Juvenile Myoclonic Epilepsy 29

Anatomical Context for Epilepsy, Myoclonic Juvenile

MalaCards organs/tissues related to Epilepsy, Myoclonic Juvenile:

40
Brain, Eye, Temporal Lobe, Thalamus, Cortex, Heart, Occipital Lobe

Publications for Epilepsy, Myoclonic Juvenile

Articles related to Epilepsy, Myoclonic Juvenile:

(show top 50) (show all 1190)
# Title Authors PMID Year
1
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. 61 57 6
18505993 2008
2
Mutations in EFHC1 cause juvenile myoclonic epilepsy. 61 57 6
15258581 2004
3
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. 6 57 61
12439895 2002
4
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 61 6 57
11992121 2002
5
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 61 6
27521439 2016
6
De novo GABRA1 mutations in Ohtahara and West syndromes. 61 6
26918889 2016
7
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. 61 6
20551311 2010
8
Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study. 57 61
19786695 2009
9
Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy. 61 57
18463366 2008
10
Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. 61 6
18534981 2008
11
Regional reductions in serotonin 1A receptor binding in juvenile myoclonic epilepsy. 57 61
15956165 2005
12
Genetic influences on myoclonic and absence seizures. 61 57
14663045 2003
13
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 61 6
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. 57 61
8751867 1996
15
Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. 57 61
8737649 1996
16
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1". 57 61
7654068 1995
17
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. 61 57
7668263 1995
18
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. 57 61
8352275 1993
19
Delayed diagnosis of juvenile myoclonic epilepsy. 57 61
1619419 1992
20
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. 61 57
1922810 1991
21
Juvenile myoclonic epilepsy: an autosomal recessive disease. 57 61
2505665 1989
22
Juvenile myoclonic epilepsy: characteristics of a primary generalized epilepsy. 57 61
2506006 1989
23
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
24
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
25
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 6
27353043 2016
26
Copy number variation plays an important role in clinical epilepsy. 6
24811917 2014
27
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 6
24623842 2014
28
Rare copy number variants are an important cause of epileptic encephalopathies. 6
22190369 2011
29
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 6
21714819 2011
30
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 6
19191339 2009
31
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. 6
17159113 2006
32
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 6
16718694 2006
33
Evidence for familial association of psychiatric disorders and epilepsy. 57
7803604 1994
34
Mutations in GABAA receptor subunits associated with genetic epilepsies. 61 54
20308251 2010
35
Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. 61 54
20338729 2010
36
BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. 61 54
19953286 2010
37
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 61 54
19577488 2009
38
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 61 54
17634063 2007
39
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families. 61 54
17054699 2006
40
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. 54 61
16839746 2006
41
Some genetic and biochemical aspects of myoclonus. 61 54
17336771 2006
42
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. 54 61
16824517 2006
43
A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. 61 54
16112844 2005
44
[Episodic ataxias]. 54 61
16100538 2005
45
Seizures of idiopathic generalized epilepsies. 54 61
16302874 2005
46
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 54 61
14582146 2003
47
BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. 61 54
12830434 2003
48
Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. 54 61
14631097 2003
49
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. 54 61
12610651 2003
50
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 61 54
11254445 2001

Variations for Epilepsy, Myoclonic Juvenile

ClinVar genetic disease variations for Epilepsy, Myoclonic Juvenile:

6 (show top 50) (show all 649)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFHC1 NM_018100.4(EFHC1):c.723+18_723+19insG Insertion association 830042 rs1581829739 GRCh37: 6:52317653-52317654
GRCh38: 6:52452855-52452856
2 CHRNA7 NM_000746.6(CHRNA7):c.241-1G>A SNV Pathogenic 560979 rs1566846736 GRCh37: 15:32403990-32403990
GRCh38: 15:32111789-32111789
3 EFHC1 NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter) SNV Pathogenic 210912 rs796052414 GRCh37: 6:52318995-52318995
GRCh38: 6:52454197-52454197
4 CACNB4 NM_001330113.2(CACNB4):c.545-239del Deletion Pathogenic 374311 rs1057518688 GRCh37: 2:152727364-152727364
GRCh38: 2:151870850-151870850
5 GABRA1 NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) Deletion Pathogenic 568345 rs1561587715 GRCh37: 5:161322682-161322701
GRCh38: 5:161895676-161895695
6 GABRA1 NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) SNV Pathogenic 265161 rs727503940 GRCh37: 5:161309644-161309644
GRCh38: 5:161882638-161882638
7 overlap with 4 genes NC_000005.9:g.(?_160721068)_(161528343_?)del Deletion Pathogenic 833049 GRCh37: 5:160721068-161528343
GRCh38:
8 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) SNV Pathogenic 265162 rs886039373 GRCh37: 5:161309645-161309645
GRCh38: 5:161882639-161882639
9 EFHC1 NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) SNV Pathogenic 2065 rs137852777 GRCh37: 6:52317540-52317540
GRCh38: 6:52452742-52452742
10 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 GRCh37: 5:161300202-161300202
GRCh38: 5:161873196-161873196
11 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 GRCh37: 5:161300202-161300202
GRCh38: 5:161873196-161873196
12 CLCN2 NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) SNV risk factor 9039 rs137852682 GRCh37: 3:184071575-184071575
GRCh38: 3:184353787-184353787
13 EFHC1 NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) SNV risk factor 2065 rs137852777 GRCh37: 6:52317540-52317540
GRCh38: 6:52452742-52452742
14 GABRA1 NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) SNV Likely pathogenic 858746 GRCh37: 5:161318025-161318025
GRCh38: 5:161891019-161891019
15 CACNB4 NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) SNV risk factor 7608 rs1805031 GRCh37: 2:152737393-152737393
GRCh38: 2:151880879-151880879
16 GABRA1 NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) SNV Likely pathogenic 950574 GRCh37: 5:161317999-161317999
GRCh38: 5:161890993-161890993
17 GABRA1 NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) SNV Likely pathogenic 802172 rs796052488 GRCh37: 5:161300135-161300135
GRCh38: 5:161873129-161873129
18 GABRA1 NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) SNV Likely pathogenic 802173 rs1581220163 GRCh37: 5:161322712-161322712
GRCh38: 5:161895706-161895706
19 GABRA1 NM_001127644.2(GABRA1):c.857-2A>G SNV Likely pathogenic 585892 rs1313965409 GRCh37: 5:161322670-161322670
GRCh38: 5:161895664-161895664
20 GABRA1 NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) SNV Likely pathogenic 853851 GRCh37: 5:161322680-161322680
GRCh38: 5:161895674-161895674
21 GABRA1 NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp) SNV risk factor 16214 rs121434579 GRCh37: 5:161322780-161322780
GRCh38: 5:161895774-161895774
22 GABRA1 NM_001127644.2(GABRA1):c.975del (p.Ser326fs) Deletion risk factor 16215 rs1581220270 GRCh37: 5:161322790-161322790
GRCh38: 5:161895784-161895784
23 GABRA1 NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC Insertion risk factor 127231 rs587777363 GRCh37: 5:161964512-161964513
GRCh38: 5:162537506-162537507
24 GABRA1 NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn) SNV risk factor 127232 rs587777364 GRCh37: 5:161309659-161309659
GRCh38: 5:161882653-161882653
25 GABRA1 NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) SNV Likely pathogenic 205521 rs796052492 GRCh37: 5:161317999-161317999
GRCh38: 5:161890993-161890993
26 EFHC1 NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr) SNV risk factor 2066 rs137852778 GRCh37: 6:52318926-52318926
GRCh38: 6:52454128-52454128
27 EFHC1 NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter) SNV risk factor 2070 rs137852781 GRCh37: 6:52319052-52319052
GRCh38: 6:52454254-52454254
28 EFHC1 NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) SNV risk factor 2064 rs137852776 GRCh37: 6:52317597-52317597
GRCh38: 6:52452799-52452799
29 EFHC1 NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) SNV risk factor 2067 rs149055334 GRCh37: 6:52288909-52288909
GRCh38: 6:52424111-52424111
30 EFHC1 NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) SNV Conflicting interpretations of pathogenicity 205414 rs149998588 GRCh37: 6:52344557-52344557
GRCh38: 6:52479759-52479759
31 EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[12] Microsatellite Conflicting interpretations of pathogenicity 357501 rs59794069 GRCh37: 6:52358163-52358164
GRCh38: 6:52493365-52493366
32 CACNB4 NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) SNV Conflicting interpretations of pathogenicity 7608 rs1805031 GRCh37: 2:152737393-152737393
GRCh38: 2:151880879-151880879
33 GABRA1 NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) SNV Uncertain significance 137416 rs142385746 GRCh37: 5:161324407-161324407
GRCh38: 5:161897401-161897401
34 EFHC1 NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) SNV Uncertain significance 137196 rs377227885 GRCh37: 6:52344532-52344532
GRCh38: 6:52479734-52479734
35 GABRA1 NM_001127644.2(GABRA1):c.703+8C>A SNV Uncertain significance 697087 rs376693195 GRCh37: 5:161309715-161309715
GRCh38: 5:161882709-161882709
36 GABRA1 NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) SNV Uncertain significance 951254 GRCh37: 5:161309615-161309615
GRCh38: 5:161882609-161882609
37 GABRA1 NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val) SNV Uncertain significance 953684 GRCh37: 5:161324217-161324217
GRCh38: 5:161897211-161897211
38 EFHC1 NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser) SNV Uncertain significance 958394 GRCh37: 6:52288874-52288874
GRCh38: 6:52424076-52424076
39 GABRA1 NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile) SNV Uncertain significance 962701 GRCh37: 5:161322678-161322678
GRCh38: 5:161895672-161895672
40 GABRA1 NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup) Duplication Uncertain significance 963369 GRCh37: 5:161324408-161324409
GRCh38: 5:161897402-161897403
41 GABRA1 NM_001127644.2(GABRA1):c.74+3_74+4delinsAT Indel Uncertain significance 969559 GRCh37: 5:161277893-161277894
GRCh38: 5:161850887-161850888
42 GABRA1 NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis) Indel Uncertain significance 970934 GRCh37: 5:161324378-161324381
GRCh38: 5:161897372-161897375
43 GABRA1 NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) SNV Uncertain significance 497531 rs376031361 GRCh37: 5:161324286-161324286
GRCh38: 5:161897280-161897280
44 GABRA1 NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) SNV Uncertain significance 373415 rs1057518405 GRCh37: 5:161324354-161324354
GRCh38: 5:161897348-161897348
45 GABRA1 NM_001127644.2(GABRA1):c.*988A>G SNV Uncertain significance 907625 GRCh37: 5:161325416-161325416
GRCh38: 5:161898410-161898410
46 GABRA1 NM_001127644.2(GABRA1):c.*993C>T SNV Uncertain significance 907626 GRCh37: 5:161325421-161325421
GRCh38: 5:161898415-161898415
47 GABRA1 NM_001127644.2(GABRA1):c.*1324T>C SNV Uncertain significance 907627 GRCh37: 5:161325752-161325752
GRCh38: 5:161898746-161898746
48 GABRA1 NM_001127644.2(GABRA1):c.*1359T>C SNV Uncertain significance 907628 GRCh37: 5:161325787-161325787
GRCh38: 5:161898781-161898781
49 GABRA1 NM_001127644.2(GABRA1):c.*2035G>A SNV Uncertain significance 907700 GRCh37: 5:161326463-161326463
GRCh38: 5:161899457-161899457
50 GABRA1 NM_001127644.2(GABRA1):c.*2098C>T SNV Uncertain significance 907701 GRCh37: 5:161326526-161326526
GRCh38: 5:161899520-161899520

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

72 (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

Expression for Epilepsy, Myoclonic Juvenile

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

Pathways for Epilepsy, Myoclonic Juvenile

GO Terms for Epilepsy, Myoclonic Juvenile

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.29 SLC12A6 SCN1A KCNQ3 KCNA1 GRM4 GABRG2
2 cell junction GO:0030054 9.95 KCNA1 GABRG2 GABRD GABRA1 GABBR1 CHRNA7
3 dendrite GO:0030425 9.89 KCNA1 GABRG2 GABRD GABBR1 CHRNA4
4 neuron projection GO:0043005 9.85 GABRG2 GABRD GABRA1 CHRNA7 CHRNA4
5 neuronal cell body GO:0043025 9.83 SCN1A KCNA1 GABRD EFHC1 CHRNA4
6 postsynapse GO:0098794 9.72 GABRG2 GABRA1 CHRNA7
7 integral component of plasma membrane GO:0005887 9.7 SLC12A6 KCNQ3 KCNA1 GRM4 GABRG2 GABRD
8 postsynaptic membrane GO:0045211 9.63 GABRG2 GABRD GABRA1 GABBR1 CHRNA7 CHRNA4
9 GABA-ergic synapse GO:0098982 9.62 GABRG2 GABRD GABRA1 GABBR1
10 chloride channel complex GO:0034707 9.56 GABRG2 GABRD GABRA1 CLCN2
11 axon initial segment GO:0043194 9.54 SCN1A KCNQ3
12 GABA-A receptor complex GO:1902711 9.54 GABRG2 GABRD GABRA1
13 acetylcholine-gated channel complex GO:0005892 9.52 CHRNA7 CHRNA4
14 node of Ranvier GO:0033268 9.51 SCN1A KCNQ3
15 synapse GO:0045202 9.36 SLC12A6 KCNQ3 KCNA1 GRM4 GABRG2 GABRD

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.15 GRM4 GABRG2 GABRD GABRA1 GABBR1 CILK1
2 transmembrane transport GO:0055085 9.97 SLC12A6 SCN1A KCNQ3 KCNA1 CLCN2
3 ion transmembrane transport GO:0034220 9.92 SCN1A KCNQ3 GABRG2 GABRD GABRA1 CLCN2
4 ion transport GO:0006811 9.9 SLC12A6 SCN1A KCNQ3 KCNA1 GABRG2 GABRD
5 regulation of ion transmembrane transport GO:0034765 9.83 SCN1A KCNQ3 KCNA1 CLCN2 CACNB4
6 chloride transmembrane transport GO:1902476 9.8 SLC12A6 GABRG2 GABRD GABRA1 CLCN2
7 regulation of membrane potential GO:0042391 9.8 SCN1A KCNA1 GABRG2 GABRD GABRA1 CHRNA7
8 potassium ion transport GO:0006813 9.78 SLC12A6 KCNQ3 KCNA1
9 potassium ion transmembrane transport GO:0071805 9.77 SLC12A6 KCNQ3 KCNA1
10 calcium ion transport GO:0006816 9.77 CHRNA7 CHRNA4 CACNB4
11 nervous system process GO:0050877 9.77 GABRG2 GABRD GABRA1 CHRNA7 CHRNA4
12 chloride transport GO:0006821 9.76 GABRG2 GABRD GABRA1 CLCN2
13 gamma-aminobutyric acid signaling pathway GO:0007214 9.65 GABRG2 GABRA1 GABBR1
14 synaptic transmission, cholinergic GO:0007271 9.58 CHRNA7 CHRNA4
15 membrane depolarization GO:0051899 9.58 CHRNA4 CACNB4
16 action potential GO:0001508 9.56 SCN1A CHRNA4
17 synaptic transmission, GABAergic GO:0051932 9.54 GABRG2 GABRA1
18 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.52 SCN1A KCNA1
19 inhibitory synapse assembly GO:1904862 9.51 GABRG2 GABRA1
20 regulation of postsynaptic membrane potential GO:0060078 9.5 KCNA1 GABRG2 GABRD GABRA1 GABBR1 CHRNA7
21 cellular response to histamine GO:0071420 9.49 GABRG2 GABRA1
22 chemical synaptic transmission GO:0007268 9.32 SLC12A6 KCNQ3 KCNA1 GRM4 GABRG2 GABRD

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.73 GABRG2 GABRD GABRA1 GABBR1 CHRNA7 CHRNA4
2 voltage-gated ion channel activity GO:0005244 9.72 SCN1A KCNQ3 KCNA1 CLCN2 CACNB4
3 chloride channel activity GO:0005254 9.67 GABRG2 GABRD GABRA1 CLCN2
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.61 GABRG2 GABRD GABRA1
5 GABA-A receptor activity GO:0004890 9.58 GABRG2 GABRD GABRA1
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.55 CHRNA7 CHRNA4
7 neurotransmitter receptor activity GO:0030594 9.55 GABRG2 GABRD GABRA1 CHRNA7 CHRNA4
8 acetylcholine receptor activity GO:0015464 9.54 CHRNA7 CHRNA4
9 GABA-gated chloride ion channel activity GO:0022851 9.52 GABRG2 GABRA1
10 acetylcholine binding GO:0042166 9.51 CHRNA7 CHRNA4
11 benzodiazepine receptor activity GO:0008503 9.49 GABRG2 GABRA1
12 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.48 GABRG2 GABRA1
13 potassium ion transmembrane transporter activity GO:0015079 9.46 SLC12A6 KCNA1
14 extracellular ligand-gated ion channel activity GO:0005230 9.35 GABRG2 GABRD GABRA1 CHRNA7 CHRNA4
15 ion channel activity GO:0005216 9.23 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRA1

Sources for Epilepsy, Myoclonic Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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