EJM1
MCID: EPL198
MIFTS: 32

Epilepsy, Myoclonic Juvenile (EJM1)

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

Aliases & Classifications for Epilepsy, Myoclonic Juvenile

MalaCards integrated aliases for Epilepsy, Myoclonic Juvenile:

Name: Epilepsy, Myoclonic Juvenile 58
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 58 13
Myoclonic Epilepsy, Juvenile 1 58 6
Myoclonic Epilepsy, Juvenile 58 74
Janz Syndrome 58 76
Ejm 58 17
Jme 58 76
Susceptibility to Juvenile Myoclonic Epilepsy 1 76
Myoclonic Epilepsy, Juvenile; Jme 58
Juvenile Myoclonic Epilepsy 1 76
Epilepsy, Juvenile Myoclonic 13
Petit Mal, Impulsive 58
Petit Mal Impulsive 76
Ejm1 76

Characteristics:

OMIM:

58
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:

33
epilepsy, myoclonic juvenile:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Myoclonic Juvenile

OMIM : 58 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)

MalaCards based summary : Epilepsy, Myoclonic Juvenile, also known as myoclonic epilepsy, juvenile, susceptibility to, 1, is related to epilepsy, idiopathic generalized 10 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). Related phenotypes are generalized tonic-clonic seizures and morning myoclonic jerks

UniProtKB/Swiss-Prot : 76 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.

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 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 all 21)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 10 31.5 CACNB4 EFHC1
2 epilepsy, idiopathic generalized 31.4 CACNB4 EFHC1
3 epilepsy 31.1 CACNB4 EFHC1
4 myoclonic epilepsy, juvenile 4 12.4
5 myoclonic epilepsy, juvenile 3 12.4
6 epilepsy, juvenile myoclonic 10 12.4
7 epilepsy, juvenile myoclonic 9 12.3
8 epilepsy, idiopathic generalized 7 11.6
9 epilepsy, idiopathic generalized 11 11.1
10 epilepsy, idiopathic generalized 9 11.1
11 epilepsy, idiopathic generalized 13 11.1
12 juvenile absence epilepsy 11.1
13 early myoclonic encephalopathy 10.8
14 childhood absence epilepsy 10.2
15 myeloma, multiple 10.1
16 immunoglobulin e concentration, serum 10.1
17 unverricht-lundborg syndrome 10.1
18 myoclonus 10.0
19 myoclonic epilepsy of unverricht and lundborg 10.0
20 headache 10.0
21 adolescence-adult electroclinical syndrome 9.9 CACNB4 EFHC1

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:

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069
2 morning myoclonic jerks 33 HP:0007000
3 absence seizure 33 HP:0002121
4 status epilepticus 33 HP:0002133
5 eeg with generalized polyspikes 33 HP:0012001

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Epilepsy, Myoclonic Juvenile

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
2 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371

Search NIH Clinical Center for Epilepsy, Myoclonic Juvenile

Genetic Tests for Epilepsy, Myoclonic Juvenile

Anatomical Context for Epilepsy, Myoclonic Juvenile

Publications for Epilepsy, Myoclonic Juvenile

Articles related to Epilepsy, Myoclonic Juvenile:

# Title Authors Year
1
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. ( 18505993 )
2008
2
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. ( 17159113 )
2006
3
Mutations in EFHC1 cause juvenile myoclonic epilepsy. ( 15258581 )
2004
4
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. ( 12439895 )
2002
5
Cortical myoclonus in Janz syndrome. ( 11595137 )
2001
6
Juvenile myoclonic epilepsy: the janz syndrome ( 11080243 )
2000
7
Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. ( 8737649 )
1996
8
Characterization of new IgG lambda myeloma plasma cell line (EJM): a further tool in the investigation of the biology of multiple myeloma. ( 2117464 )
1990

Variations for Epilepsy, Myoclonic Juvenile

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

76 (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

ClinVar genetic disease variations for Epilepsy, Myoclonic Juvenile:

6 (show top 50) (show all 618)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFHC1 NM_018100.3(EFHC1): c.545G> A (p.Arg182His) single nucleotide variant Benign rs3804505 GRCh37 Chromosome 6, 52303361: 52303361
2 EFHC1 NM_018100.3(EFHC1): c.545G> A (p.Arg182His) single nucleotide variant Benign rs3804505 GRCh38 Chromosome 6, 52438563: 52438563
3 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh37 Chromosome 6, 52317597: 52317597
4 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh38 Chromosome 6, 52452799: 52452799
5 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh37 Chromosome 6, 52317540: 52317540
6 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh38 Chromosome 6, 52452742: 52452742
7 EFHC1 NM_018100.3(EFHC1): c.757G> T (p.Asp253Tyr) single nucleotide variant risk factor rs137852778 GRCh37 Chromosome 6, 52318926: 52318926
8 EFHC1 NM_018100.3(EFHC1): c.757G> T (p.Asp253Tyr) single nucleotide variant risk factor rs137852778 GRCh38 Chromosome 6, 52454128: 52454128
9 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh37 Chromosome 6, 52288909: 52288909
10 EFHC1 NM_018100.3(EFHC1): c.229C> A (p.Pro77Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149055334 GRCh38 Chromosome 6, 52424111: 52424111
11 EFHC1 NM_018100.3(EFHC1): c.883C> T (p.Gln295Ter) single nucleotide variant risk factor rs137852781 GRCh37 Chromosome 6, 52319052: 52319052
12 EFHC1 NM_018100.3(EFHC1): c.883C> T (p.Gln295Ter) single nucleotide variant risk factor rs137852781 GRCh38 Chromosome 6, 52454254: 52454254
13 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
14 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
15 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh37 Chromosome 6, 52317574: 52317574
16 EFHC1 NM_018100.3(EFHC1): c.662G> A (p.Arg221His) single nucleotide variant Conflicting interpretations of pathogenicity rs79761183 GRCh38 Chromosome 6, 52452776: 52452776
17 GABRA1 NM_000806.5(GABRA1): c.1059+15G> A single nucleotide variant Benign/Likely benign rs2279020 GRCh37 Chromosome 5, 161322889: 161322889
18 GABRA1 NM_000806.5(GABRA1): c.1059+15G> A single nucleotide variant Benign/Likely benign rs2279020 GRCh38 Chromosome 5, 161895883: 161895883
19 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh37 Chromosome 6, 52317541: 52317541
20 EFHC1 NM_018100.3(EFHC1): c.629A> T (p.Asp210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73740379 GRCh38 Chromosome 6, 52452743: 52452743
21 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh37 Chromosome 2, 152698480: 152698480
22 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh38 Chromosome 2, 151841966: 151841966
23 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh37 Chromosome 2, 152695896: 152695896
24 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh38 Chromosome 2, 151839382: 151839382
25 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh37 Chromosome 2, 152717331: 152717331
26 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh38 Chromosome 2, 151860817: 151860817
27 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh37 Chromosome 6, 52334148: 52334148
28 EFHC1 NM_018100.3(EFHC1): c.1155C> T (p.Asn385=) single nucleotide variant Benign/Likely benign rs115913738 GRCh38 Chromosome 6, 52469350: 52469350
29 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh37 Chromosome 6, 52334217: 52334217
30 EFHC1 NM_018100.3(EFHC1): c.1224C> T (p.Asp408=) single nucleotide variant Benign rs116134831 GRCh38 Chromosome 6, 52469419: 52469419
31 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh37 Chromosome 6, 52343899: 52343899
32 EFHC1 NM_018100.3(EFHC1): c.1343T> C (p.Met448Thr) single nucleotide variant Benign/Likely benign rs1266787 GRCh38 Chromosome 6, 52479101: 52479101
33 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh37 Chromosome 6, 52343941: 52343941
34 EFHC1 NM_018100.3(EFHC1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs200116252 GRCh38 Chromosome 6, 52479143: 52479143
35 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh37 Chromosome 6, 52355109: 52355109
36 EFHC1 NM_018100.3(EFHC1): c.1812A> C (p.Glu604Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs369503191 GRCh38 Chromosome 6, 52490311: 52490311
37 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh37 Chromosome 6, 52357062: 52357062
38 EFHC1 NM_018100.3(EFHC1): c.1852-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs372507832 GRCh38 Chromosome 6, 52492264: 52492264
39 EFHC1 NM_018100.3(EFHC1): c.1855A> C (p.Ile619Leu) single nucleotide variant Benign/Likely benign rs17851770 GRCh37 Chromosome 6, 52357071: 52357071
40 EFHC1 NM_018100.3(EFHC1): c.1855A> C (p.Ile619Leu) single nucleotide variant Benign/Likely benign rs17851770 GRCh38 Chromosome 6, 52492273: 52492273
41 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh37 Chromosome 6, 52285233: 52285233
42 EFHC1 NM_018100.3(EFHC1): c.25T> C (p.Leu9=) single nucleotide variant Benign/Likely benign rs149315015 GRCh38 Chromosome 6, 52420435: 52420435
43 EFHC1 NM_018100.3(EFHC1): c.475C> T (p.Arg159Trp) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
44 EFHC1 NM_018100.3(EFHC1): c.475C> T (p.Arg159Trp) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
45 EFHC1 NM_018100.3(EFHC1): c.573+10A> G single nucleotide variant Benign/Likely benign rs9349626 GRCh37 Chromosome 6, 52303399: 52303399
46 EFHC1 NM_018100.3(EFHC1): c.573+10A> G single nucleotide variant Benign/Likely benign rs9349626 GRCh38 Chromosome 6, 52438601: 52438601
47 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh37 Chromosome 6, 52319050: 52319050
48 EFHC1 NM_018100.3(EFHC1): c.881G> A (p.Arg294His) single nucleotide variant Benign rs1570624 GRCh38 Chromosome 6, 52454252: 52454252
49 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh37 Chromosome 6, 52288770: 52288770
50 EFHC1 NM_018100.3(EFHC1): c.90G> A (p.Thr30=) single nucleotide variant Conflicting interpretations of pathogenicity rs140429638 GRCh38 Chromosome 6, 52423972: 52423972

Expression for Epilepsy, Myoclonic Juvenile

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Pathways for Epilepsy, Myoclonic Juvenile

GO Terms for Epilepsy, Myoclonic Juvenile

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