EJM
MCID: EPL198
MIFTS: 62

Epilepsy, Myoclonic Juvenile (EJM)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Epilepsy, Myoclonic Juvenile

MalaCards integrated aliases for Epilepsy, Myoclonic Juvenile:

Name: Epilepsy, Myoclonic Juvenile 57
Juvenile Myoclonic Epilepsy 11 19 42 58 75 28 5 14 33
Janz Syndrome 57 11 19 42 73 33
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 57 28 12 5
Jme 57 19 58 73
Myoclonic Epilepsy, Juvenile 57 43 71
Petit Mal, Impulsive 57 19 42
Ejm 57 19 16
Susceptibility to Juvenile Myoclonic Epilepsy 1 73
Jme - [juvenile Myoclonic Epilepsy] 33
Myoclonic Epilepsy, Juvenile, 1 19
Myoclonic Epilepsy, Juvenile 1 57
Adolescent Myoclonic Epilepsy 42
Juvenile Myoclonic Epilepsy 1 73
Epilepsy, Myoclonic, Juvenile 38
Juvenile Myoclonus Epilepsy 58
Myoclonic Epilepsy Juvenile 53
Myoclonic Epilepsy of Janz 33
Petit Mal Impulsive 73
Ejm1 73

Characteristics:


Inheritance:

Epilepsy, Myoclonic Juvenile: Autosomal dominant 57
Juvenile Myoclonic Epilepsy: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial 58

Age Of Onset:

Juvenile Myoclonic Epilepsy: Adolescent 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:4890
OMIM® 57 254770
OMIM Phenotypic Series 57 PS254770
MeSH 43 D020190
NCIt 49 C84796
SNOMED-CT 68 6204001
MESH via Orphanet 44 D020190
ICD10 via Orphanet 32 G40.3
UMLS via Orphanet 72 C0270853
Orphanet 58 ORPHA307
ICD11 33 1014397110
UMLS 71 C0270853

Summaries for Epilepsy, Myoclonic Juvenile

MedlinePlus Genetics: 42 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 myoclonic epilepsy, juvenile 4 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 Sweet Taste Signaling and Transmission across Chemical Synapses. Affiliated tissues include brain, eye and temporal lobe, and related phenotypes are eeg with polyspike wave complexes and morning myoclonic jerks

GARD: 19 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. Genetic changes in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition.

Orphanet: 58 Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).

OMIM®: 57 Juvenile myoclonic epilepsy (EJM, JME) is a subtype of idiopathic generalized epilepsy (EIG; see 600669), affecting up to 26% of all individuals with EIG. Individuals with EJM have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks usually occur in the morning (Janz and Durner, 1997). (254770) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Wikipedia: 75 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of genetic 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 206)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy, juvenile 4 33.1 GABRA1 EJM4
2 epilepsy, idiopathic generalized 32.0 SCN1A KCNQ3 KCNA1 JRK GABRG2 GABRD
3 focal epilepsy 31.7 SCN1A KCNA1 GABRG2 GABRD CHRNA4
4 photosensitive epilepsy 31.6 SCN1A KCNQ3 GABRG2 GABRD GABRA1 EFHC1
5 early myoclonic encephalopathy 31.5 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRB3
6 febrile seizures 31.5 SCN1A GABRG2 GABRD
7 epilepsy with generalized tonic-clonic seizures 31.2 SCN1A GABRG2 GABRD GABRB3 GABRA1 EFHC1
8 epilepsy 31.2 SCN1A KCNQ3 KCNA1 JRK GRM4 GABRG2
9 anxiety 31.2 GABRG2 GABRB3 GABRA1 GABBR1
10 progressive myoclonus epilepsy 31.1 SCN1A KCNQ3 KCNA1 GABRG2 GABRA1 EFHC1
11 migraine with or without aura 1 31.1 SCN1A KCNQ3 KCNA1 CACNB4
12 benign epilepsy with centrotemporal spikes 31.0 SLC12A6 SCN1A KCNQ3 GABRG2 GABRD GABRB3
13 migraine with aura 30.9 SCN1A KCNA1 CACNB4
14 reflex epilepsy 30.9 SCN1A GABRG2 CHRNA4
15 benign neonatal seizures 30.7 SCN1A KCNQ3 KCNA1 GABRA1 EFHC1 CHRNA4
16 lennox-gastaut syndrome 30.7 SCN1A KCNQ3 GABRG2 GABRB3 GABRA1
17 benign familial neonatal epilepsy 30.7 SCN1A KCNQ3 KCNA1 GABRG2 GABRB3 GABRA1
18 west syndrome 30.7 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRB3
19 autosomal dominant nocturnal frontal lobe epilepsy 30.6 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRB3
20 generalized epilepsy with febrile seizures plus 30.6 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRB3
21 childhood absence epilepsy 30.6 SCN1A KCNQ3 KCNA1 JRK GRM4 GABRG2
22 unverricht-lundborg syndrome 30.6 SCN1A KCNQ3 EFHC1 CHRNA4
23 juvenile absence epilepsy 30.5 SCN1A GABRG2 GABRD GABRB3 GABRA1 EFHC1
24 epilepsy, juvenile myoclonic 10 11.7
25 epilepsy, idiopathic generalized 11 11.6
26 myoclonic epilepsy, juvenile 3 11.5
27 epilepsy, juvenile myoclonic 9 11.5
28 photoparoxysmal response 1 11.3
29 epilepsy, idiopathic generalized 18 11.2
30 epilepsy, idiopathic generalized 10 11.1
31 epilepsy, idiopathic generalized 9 10.9
32 epilepsy, idiopathic generalized 13 10.9
33 personality disorder 10.6
34 status epilepticus 10.6
35 temporal lobe epilepsy 10.6
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
37 developmental and epileptic encephalopathy 7 10.5 SCN1A KCNQ3 CHRNA4
38 developmental and epileptic encephalopathy 74 10.5 GABRG2 GABRB3 GABRA1
39 febrile seizures, familial, 11 10.5 SCN1A GABRG2 GABRD
40 febrile seizures, familial, 8 10.5 SCN1A GABRG2 GABRD
41 generalized epilepsy with febrile seizures plus, type 7 10.5 SCN1A GABRG2 GABRD
42 infancy electroclinical syndrome 10.5 SCN1A KCNQ3 GABRB3 GABRA1
43 generalized epilepsy with febrile seizures plus, type 2 10.5 SCN1A GABRG2 GABRD
44 early onset absence epilepsy 10.5 SCN1A KCNQ3 GABRG2 GABRB3 GABRA1 EFHC1
45 febrile seizures, familial, 4 10.5 SCN1A GABRG2 GABRD
46 developmental and epileptic encephalopathy 43 10.5 SCN1A GABRG2 GABRD GABRB3 GABRA1
47 episodic ataxia, type 1 10.5 KCNQ3 KCNA1 CACNB4
48 epilepsy, familial temporal lobe, 1 10.5 SCN1A KCNA1 GABRG2 EFHC1 CHRNA4
49 episodic ataxia, type 7 10.5 KCNA1 CACNB4
50 episodic kinesigenic dyskinesia 1 10.5 KCNA1 CHRNA4 CACNB4

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
absence seizures
normal intelligence
generalized tonic-clonic seizures
myoclonic jerks
photosensitivity in one-third of patients
more

Clinical features from OMIM®:

254770 (Updated 08-Dec-2022)

UMLS symptoms related to Epilepsy, Myoclonic Juvenile:


myoclonus; absence seizures

MGI Mouse Phenotypes related to Epilepsy, Myoclonic Juvenile:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.16 BRD2 CACNB4 CHRNA4 CILK1 CLCN2 EFHC1
2 muscle MP:0005369 9.7 BRD2 CACNB4 EFHC1 GABRA1 GABRG2 KCNA1
3 hearing/vestibular/ear MP:0005377 9.5 BRD2 CACNB4 GABRA1 GABRB3 GABRD KCNA1
4 behavior/neurological MP:0005386 9.5 BRD2 CACNB4 CHRNA4 CLCN2 EFHC1 GABBR1

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 28
2 Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 28 EFHC1

Anatomical Context for Epilepsy, Myoclonic Juvenile

Organs/tissues related to Epilepsy, Myoclonic Juvenile:

MalaCards : Brain, Eye, Temporal Lobe, Thalamus, Occipital Lobe, Cortex, Amygdala

Publications for Epilepsy, Myoclonic Juvenile

Articles related to Epilepsy, Myoclonic Juvenile:

(show top 50) (show all 1271)
# Title Authors PMID Year
1
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. 62 57 5
18505993 2008
2
Mutations in EFHC1 cause juvenile myoclonic epilepsy. 62 57 5
15258581 2004
3
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. 62 57 5
12439895 2002
4
Juvenile myoclonic epilepsy 25 years after seizure onset: a population-based study. 62 57
19786695 2009
5
Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy. 62 57
18463366 2008
6
Regional reductions in serotonin 1A receptor binding in juvenile myoclonic epilepsy. 62 57
15956165 2005
7
Genetic influences on myoclonic and absence seizures. 62 57
14663045 2003
8
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 62 57
11992121 2002
9
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. 62 57
8751867 1996
10
Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. 62 57
8737649 1996
11
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. 62 57
7668263 1995
12
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1". 62 57
7654068 1995
13
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. 62 57
8352275 1993
14
Delayed diagnosis of juvenile myoclonic epilepsy. 62 57
1619419 1992
15
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. 62 57
1922810 1991
16
Juvenile myoclonic epilepsy: an autosomal recessive disease. 62 57
2505665 1989
17
Juvenile myoclonic epilepsy: characteristics of a primary generalized epilepsy. 62 57
2506006 1989
18
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. 5
17159113 2006
19
Evidence for familial association of psychiatric disorders and epilepsy. 57
7803604 1994
20
Mutations in GABAA receptor subunits associated with genetic epilepsies. 53 62
20308251 2010
21
Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. 53 62
20338729 2010
22
BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. 53 62
19953286 2010
23
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 53 62
19577488 2009
24
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. 53 62
17634063 2007
25
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. 53 62
16839746 2006
26
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families. 53 62
17054699 2006
27
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. 53 62
16824517 2006
28
Some genetic and biochemical aspects of myoclonus. 53 62
17336771 2006
29
A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. 53 62
16112844 2005
30
[Episodic ataxias]. 53 62
16100538 2005
31
Seizures of idiopathic generalized epilepsies. 53 62
16302874 2005
32
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 53 62
14582146 2003
33
BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. 53 62
12830434 2003
34
Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. 53 62
14631097 2003
35
Sodium channels SCN1A, SCN2A and SCN3A in familial autism. 53 62
12610651 2003
36
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 53 62
11254445 2001
37
Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1). 53 62
11223165 2001
38
Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. 53 62
10402495 1999
39
Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. 53 62
10187864 1999
40
Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. 53 62
9933300 1998
41
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. 53 62
9259383 1997
42
Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5. 53 62
8739126 1996
43
Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy. 62
36447416 2022
44
Let's Talk About Sex and Juvenile Myoclonic Epilepsy. 62
36426180 2022
45
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis. 62
36467455 2022
46
Sleep quality and circadian rhythm profile of persons with juvenile myoclonic epilepsy in a tertiary epilepsy center: A case-control study. 62
36435032 2022
47
A healthy outcome of a pregnant woman with drug-resistant juvenile myoclonic epilepsy treated with brivaracetam. 62
36222908 2022
48
Altered dynamic functional connectivity of striatal-cortical circuits in Juvenile Myoclonic Epilepsy. 62
35944422 2022
49
Understanding frontal lobe function in epilepsy: Juvenile myoclonic epilepsy vs. frontal lobe epilepsy. 62
35933958 2022
50
Characterization of cortical activity in juvenile myoclonic epilepsy by gradient magnetic field topography. 62
35853311 2022

Variations for Epilepsy, Myoclonic Juvenile

ClinVar genetic disease variations for Epilepsy, Myoclonic Juvenile:

5 (show top 50) (show all 470)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFHC1 NM_018100.4(EFHC1):c.723+18_723+19insG INSERT Association
830042 rs1581829739 GRCh37: 6:52317653-52317654
GRCh38: 6:52452855-52452856
2 EFHC1 NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter) SNV Pathogenic
210912 rs796052414 GRCh37: 6:52318995-52318995
GRCh38: 6:52454197-52454197
3 EFHC1 NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) SNV Pathogenic
Risk Factor
Uncertain Significance
2065 rs137852777 GRCh37: 6:52317540-52317540
GRCh38: 6:52452742-52452742
4 EFHC1 NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr) SNV Risk Factor
2066 rs137852778 GRCh37: 6:52318926-52318926
GRCh38: 6:52454128-52454128
5 EFHC1 NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter) SNV Risk Factor
2070 rs137852781 GRCh37: 6:52319052-52319052
GRCh38: 6:52454254-52454254
6 EFHC1 NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) SNV Risk Factor
Benign
2064 rs137852776 GRCh37: 6:52317597-52317597
GRCh38: 6:52452799-52452799
7 GABRA1 NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) SNV Likely Pathogenic
802172 rs796052488 GRCh37: 5:161300135-161300135
GRCh38: 5:161873129-161873129
8 GABRA1 NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) SNV Likely Pathogenic
802173 rs1581220163 GRCh37: 5:161322712-161322712
GRCh38: 5:161895706-161895706
9 EFHC1 NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) SNV Risk Factor
2067 rs149055334 GRCh37: 6:52288909-52288909
GRCh38: 6:52424111-52424111
10 CACNB4 NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) SNV Conflicting Interpretations Of Pathogenicity
7608 rs1805031 GRCh37: 2:152737393-152737393
GRCh38: 2:151880879-151880879
11 EFHC1 NM_018100.4(EFHC1):c.*1025AT[12] MICROSAT Conflicting Interpretations Of Pathogenicity
357501 rs59794069 GRCh37: 6:52358163-52358164
GRCh38: 6:52493365-52493366
12 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
13 EFHC1 NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys) SNV Uncertain Significance
580362 rs928396576 GRCh37: 6:52288845-52288845
GRCh38: 6:52424047-52424047
14 EFHC1 NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) SNV Uncertain Significance
205417 rs574948354 GRCh37: 6:52357108-52357108
GRCh38: 6:52492310-52492310
15 EFHC1 NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) SNV Uncertain Significance
646256 rs767704811 GRCh37: 6:52317510-52317510
GRCh38: 6:52452712-52452712
16 CACNB4 NM_000726.5(CACNB4):c.*5487T>C SNV Uncertain Significance
331555 rs111700454 GRCh37: 2:152690146-152690146
GRCh38: 2:151833632-151833632
17 CACNB4 NM_000726.5(CACNB4):c.*2542G>A SNV Uncertain Significance
331586 rs886054957 GRCh37: 2:152693091-152693091
GRCh38: 2:151836577-151836577
18 CACNB4 NM_000726.5(CACNB4):c.*1826A>G SNV Uncertain Significance
331598 rs886054959 GRCh37: 2:152693807-152693807
GRCh38: 2:151837293-151837293
19 CACNB4 NM_000726.5(CACNB4):c.*3688G>A SNV Uncertain Significance
331575 rs886054954 GRCh37: 2:152691945-152691945
GRCh38: 2:151835431-151835431
20 EFHC1 NM_018100.4(EFHC1):c.*1024C>T SNV Uncertain Significance
357507 rs372975445 GRCh37: 6:52358163-52358163
GRCh38: 6:52493365-52493365
21 EFHC1 NM_018100.4(EFHC1):c.*2913G>C SNV Uncertain Significance
357525 rs886061639 GRCh37: 6:52360052-52360052
GRCh38: 6:52495254-52495254
22 EFHC1 NM_018100.4(EFHC1):c.*66C>G SNV Uncertain Significance
357487 rs574373324 GRCh37: 6:52357205-52357205
GRCh38: 6:52492407-52492407
23 CACNB4 NM_000726.5(CACNB4):c.*737C>T SNV Uncertain Significance
331618 rs558590558 GRCh37: 2:152694896-152694896
GRCh38: 2:151838382-151838382
24 EFHC1 NM_018100.4(EFHC1):c.*1025AT[19] MICROSAT Uncertain Significance
357504 rs59794069 GRCh37: 6:52358163-52358164
GRCh38: 6:52493365-52493366
25 EFHC1 NM_018100.4(EFHC1):c.*2211C>T SNV Uncertain Significance
357522 rs753392817 GRCh37: 6:52359350-52359350
GRCh38: 6:52494552-52494552
26 EFHC1 NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) INDEL Uncertain Significance
534105 rs1554261668 GRCh37: 6:52344494-52344504
GRCh38: 6:52479696-52479706
27 EFHC1 NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) INDEL Uncertain Significance
534109 rs1554259746 GRCh37: 6:52317578-52317586
GRCh38: 6:52452780-52452788
28 GABRA1 NM_001127644.2(GABRA1):c.-117GACTCG[3] MICROSAT Uncertain Significance
352593 rs527890421 GRCh37: 5:161275324-161275325
GRCh38: 5:161848318-161848319
29 CACNB4 NM_000726.5(CACNB4):c.187G>C (p.Asp63His) SNV Uncertain Significance
331634 rs886054969 GRCh37: 2:152739845-152739845
GRCh38: 2:151883331-151883331
30 CACNB4 NM_000726.5(CACNB4):c.*5022A>G SNV Uncertain Significance
331562 rs548177540 GRCh37: 2:152690611-152690611
GRCh38: 2:151834097-151834097
31 EFHC1 NM_018100.4(EFHC1):c.*1876T>G SNV Uncertain Significance
357519 rs148070071 GRCh37: 6:52359015-52359015
GRCh38: 6:52494217-52494217
32 CACNB4 NM_000726.5(CACNB4):c.*1952C>A SNV Uncertain Significance
331592 rs764877003 GRCh37: 2:152693681-152693681
GRCh38: 2:151837167-151837167
33 CACNB4 NM_000726.5(CACNB4):c.*454dup DUP Uncertain Significance
331623 rs879114509 GRCh37: 2:152695178-152695179
GRCh38: 2:151838664-151838665
34 EFHC1 NM_018100.4(EFHC1):c.*1576C>A SNV Uncertain Significance
357516 rs547537212 GRCh37: 6:52358715-52358715
GRCh38: 6:52493917-52493917
35 CACNB4 NM_000726.5(CACNB4):c.*5977G>T SNV Uncertain Significance
331550 rs886054950 GRCh37: 2:152689656-152689656
GRCh38: 2:151833142-151833142
36 CACNB4 NM_000726.5(CACNB4):c.*4081G>A SNV Uncertain Significance
331573 rs148903851 GRCh37: 2:152691552-152691552
GRCh38: 2:151835038-151835038
37 CACNB4 NM_000726.5(CACNB4):c.*1501dup DUP Uncertain Significance
331605 rs886054963 GRCh37: 2:152694131-152694132
GRCh38: 2:151837617-151837618
38 CACNB4 NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=) SNV Uncertain Significance
331630 rs376015337 GRCh37: 2:152698441-152698441
GRCh38: 2:151841927-151841927
39 EFHC1 NM_018100.4(EFHC1):c.*549TA[3] MICROSAT Uncertain Significance
357495 rs886061631 GRCh37: 6:52357687-52357688
GRCh38: 6:52492889-52492890
40 CACNB4 NM_000726.5(CACNB4):c.*1501del DEL Uncertain Significance
331606 rs886054963 GRCh37: 2:152694132-152694132
GRCh38: 2:151837618-151837618
41 CACNB4 NM_000726.5(CACNB4):c.*1635T>C SNV Uncertain Significance
331603 rs886054962 GRCh37: 2:152693998-152693998
GRCh38: 2:151837484-151837484
42 EFHC1 NM_018100.4(EFHC1):c.*1045delinsATATATATATATA INDEL Uncertain Significance
357509 rs886061633 GRCh37: 6:52358184-52358184
GRCh38: 6:52493386-52493386
43 EFHC1 NM_018100.4(EFHC1):c.*527C>T SNV Uncertain Significance
357494 rs540732861 GRCh37: 6:52357666-52357666
GRCh38: 6:52492868-52492868
44 GABRA1 NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=) SNV Uncertain Significance
352601 rs886060361 GRCh37: 5:161324347-161324347
GRCh38: 5:161897341-161897341
45 EFHC1 NM_018100.4(EFHC1):c.*1813dup DUP Uncertain Significance
357518 rs201262358 GRCh37: 6:52358946-52358947
GRCh38: 6:52494148-52494149
46 CACNB4 NM_000726.5(CACNB4):c.*795T>G SNV Uncertain Significance
331616 rs766545084 GRCh37: 2:152694838-152694838
GRCh38: 2:151838324-151838324
47 EFHC1 NM_018100.4(EFHC1):c.*957C>T SNV Uncertain Significance
357500 rs761411516 GRCh37: 6:52358096-52358096
GRCh38: 6:52493298-52493298
48 EFHC1 NM_018100.4(EFHC1):c.*1025AT[14] MICROSAT Uncertain Significance
357503 rs59794069 GRCh37: 6:52358163-52358164
GRCh38: 6:52493365-52493366
49 CACNB4 NM_000726.5(CACNB4):c.*151del DEL Uncertain Significance
331629 rs79470866 GRCh37: 2:152695482-152695482
GRCh38: 2:151838968-151838968
50 CACNB4 NM_000726.5(CACNB4):c.642T>C (p.Asp214=) SNV Uncertain Significance
331631 rs886054967 GRCh37: 2:152727102-152727102
GRCh38: 2:151870588-151870588

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

73 (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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 GABRG2 GABRD GABRB3 GABRA1 CACNB4
2
Show member pathways
12.7 KCNQ3 KCNA1 GABRG2 GABRB3 GABRA1 GABBR1
3
Show member pathways
12.04 GABRA1 GABRB3 GABRD GABRG2
4
Show member pathways
11.85 KCNQ3 KCNA1 GABBR1
5
Show member pathways
11.79 GABRG2 GABRB3 GABRA1 GABBR1
6
Show member pathways
11.73 GABRG2 GABRB3 GABRA1
7
Show member pathways
11.68 GABRG2 GABRD GABRA1
8
Show member pathways
10.94 GRM4 GABBR1
9 10.84 GABRG2 GABRD GABRB3 GABRA1
10
Show member pathways
10.62 GABRG2 GABRA1
11 10.25 GABRG2 GABRD GABRB3 GABRA1 GABBR1

GO Terms for Epilepsy, Myoclonic Juvenile

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.69 CHRNA4 CLCN2 GABBR1 GABRA1 GABRB3 GABRD
2 membrane GO:0016021 10.69 CHRNA4 CLCN2 GABBR1 GABRA1 GABRB3 GABRD
3 neuronal cell body GO:0043025 10.27 CHRNA4 EFHC1 GABBR1 GABRD KCNA1 SCN1A
4 neuron projection GO:0043005 10.25 GABRG2 GABRD GABRB3 GABRA1 GABBR1 CHRNA4
5 dendrite GO:0030425 10.22 CHRNA4 CLCN2 GABBR1 GABRD GABRG2 KCNA1
6 axon GO:0030424 10.21 SLC12A6 SCN1A KCNA1 GABRG2 GABRD
7 plasma membrane GO:0005886 10.17 CHRNA4 CLCN2 GABBR1 GABRA1 GABRB3 GABRD
8 plasma membrane GO:0005887 10.17 CHRNA4 CLCN2 GABBR1 GABRA1 GABRB3 GABRD
9 GABA-ergic synapse GO:0098982 10.06 GABRG2 GABRD GABRA1 GABBR1
10 presynapse GO:0098793 10.01 KCNA1 GRM4 GABBR1 CACNB4
11 chloride channel complex GO:0034707 9.96 GABRG2 GABRD GABRB3 GABRA1 CLCN2
12 anchoring junction GO:0070161 9.95 CHRNA4 GABRA1 GABRB3 GABRD GABRG2 KCNA1
13 postsynaptic membrane GO:0045211 9.93 CHRNA4 GABBR1 GABRA1 GABRB3 GABRD GABRG2
14 GABA-A receptor complex GO:1902711 9.92 GABRG2 GABRD GABRB3 GABRA1
15 axon initial segment GO:0043194 9.91 SCN1A KCNQ3 KCNA1
16 GABA receptor complex GO:1902710 9.67 GABRG2 GABRA1 GABBR1
17 obsolete integral component of postsynaptic membrane GO:0099055 9.65 KCNA1 GABRD GABBR1
18 synapse GO:0045202 9.6 SLC12A6 KCNQ3 KCNA1 GRM4 GABRG2 GABRD

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 10.21 CLCN2 GABRA1 GABRB3 GABRD GABRG2 SLC12A6
2 excitatory postsynaptic potential GO:0060079 10.19 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
3 monoatomic ion transmembrane transport GO:0034220 10.18 CHRNA4 CLCN2 GABRA1 GABRB3 GABRD GABRG2
4 regulation of monoatomic ion transmembrane transport GO:0034765 10.11 SCN1A KCNQ3 KCNA1 CLCN2 CACNB4
5 gamma-aminobutyric acid signaling pathway GO:0007214 10.1 GABRG2 GABRB3 GABRA1 GABBR1 CACNB4
6 regulation of membrane potential GO:0042391 10.1 SCN1A KCNA1 GABRG2 GABRD GABRB3 GABRA1
7 synaptic transmission, GABAergic GO:0051932 10.08 GABRG2 GABRB3 GABRA1 GABBR1
8 nervous system process GO:0050877 10.06 GABRG2 GABRD GABRB3 GABRA1 CHRNA4 CACNB4
9 inhibitory synapse assembly GO:1904862 10 GABRG2 GABRB3 GABRA1
10 transmembrane transport GO:0055085 9.97 SLC12A6 SCN1A KCNQ3 KCNA1 CLCN2
11 monoatomic ion transport GO:0006811 9.97 CACNB4 CHRNA4 CLCN2 GABRA1 GABRB3 GABRD
12 chemical synaptic transmission GO:0007268 9.96 SLC12A6 KCNQ3 KCNA1 GRM4 GABRG2 GABRD
13 chloride transport GO:0006821 9.93 GABRG2 GABRD GABRB3 GABRA1 CLCN2
14 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.88 SCN1A KCNA1
15 neuronal action potential propagation GO:0019227 9.86 SCN1A CACNB4
16 cellular response to histamine GO:0071420 9.85 GABRG2 GABRB3
17 regulation of presynaptic membrane potential GO:0099505 9.84 SCN1A KCNA1 GABBR1
18 regulation of postsynaptic membrane potential GO:0060078 9.36 KCNA1 GABRG2 GABRD GABRB3 GABRA1 GABBR1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 10.1 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
2 chloride channel activity GO:0005254 10.02 CLCN2 GABRA1 GABRB3 GABRD GABRG2
3 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 10.02 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
4 transmembrane signaling receptor activity GO:0004888 10 CHRNA4 GABBR1 GABRA1 GABRB3 GABRD GABRG2
5 GABA-gated chloride ion channel activity GO:0022851 9.95 GABRG2 GABRB3 GABRA1
6 GABA-A receptor activity GO:0004890 9.86 GABRG2 GABRD GABRB3 GABRA1
7 benzodiazepine receptor activity GO:0008503 9.85 GABRG2 GABRA1
8 excitatory extracellular ligand-gated monoatomic ion channel activity GO:0005231 9.85 CHRNA4 GABRA1 GABRB3 GABRD GABRG2
9 inhibitory extracellular ligand-gated monoatomic ion channel activity GO:0005237 9.84 GABRG2 GABRA1
10 voltage-gated monoatomic ion channel activity GO:0005244 9.83 SCN1A KCNQ3 KCNA1 CLCN2 CACNB4
11 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential GO:0099508 9.7 SCN1A KCNA1
12 potassium ion transmembrane transporter activity GO:0015079 9.69 SLC12A6 KCNA1
13 GABA receptor activity GO:0016917 9.67 GABRG2 GABRA1
14 extracellular ligand-gated monoatomic ion channel activity GO:0005230 9.35 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
15 monoatomic ion channel activity GO:0005216 9.23 SCN1A KCNQ3 KCNA1 GABRG2 GABRD GABRB3

Sources for Epilepsy, Myoclonic Juvenile

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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