MCID: EPL198
MIFTS: 28

Epilepsy, Myoclonic Juvenile

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

Aliases & Classifications for Epilepsy, Myoclonic Juvenile

MalaCards integrated aliases for Epilepsy, Myoclonic Juvenile:

Name: Epilepsy, Myoclonic Juvenile 57
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 57 13
Myoclonic Epilepsy, Juvenile 1 57 6
Myoclonic Epilepsy, Juvenile 57 73
Janz Syndrome 57 75
Jme 57 75
Susceptibility to Juvenile Myoclonic Epilepsy 1 75
Myoclonic Epilepsy, Juvenile; Jme 57
Juvenile Myoclonic Epilepsy 1 75
Petit Mal, Impulsive 57
Petit Mal Impulsive 75
Ejm1 75
Ejm 57

Characteristics:

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:



Summaries for Epilepsy, Myoclonic Juvenile

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)

MalaCards based summary : Epilepsy, Myoclonic Juvenile, also known as myoclonic epilepsy, juvenile, susceptibility to, 1, is related to epilepsy, idiopathic generalized 10 and epilepsy, 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 absence seizures

UniProtKB/Swiss-Prot : 75 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

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



Diseases related to Epilepsy, Myoclonic Juvenile

Symptoms & Phenotypes for Epilepsy, Myoclonic Juvenile

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
myoclonic jerks
generalized tonic-clonic seizures
absence seizures
photosensitivity in one-third of patients
status epilepticus may occur
more

Clinical features from OMIM:

254770

Human phenotypes related to Epilepsy, Myoclonic Juvenile:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 absence seizures 32 HP:0002121
3 status epilepticus 32 HP:0002133
4 morning myoclonic jerks 32 HP:0007000
5 eeg with generalized polyspikes 32 HP:0012001

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
Juvenile myoclonic epilepsy: the janz syndrome ( 11080243 )
2000

Variations for Epilepsy, Myoclonic Juvenile

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

75 (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 508)
# Gene Variation Type Significance SNP ID Assembly Location
1 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh37 Chromosome 6, 52317597: 52317597
2 EFHC1 NM_018100.3(EFHC1): c.685T> C (p.Phe229Leu) single nucleotide variant risk factor rs137852776 GRCh38 Chromosome 6, 52452799: 52452799
3 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh37 Chromosome 6, 52317540: 52317540
4 EFHC1 NM_018100.3(EFHC1): c.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic rs137852777 GRCh38 Chromosome 6, 52452742: 52452742
5 EFHC1 NM_018100.3(EFHC1): c.757G> T (p.Asp253Tyr) single nucleotide variant risk factor rs137852778 GRCh37 Chromosome 6, 52318926: 52318926
6 EFHC1 NM_018100.3(EFHC1): c.757G> T (p.Asp253Tyr) single nucleotide variant risk factor rs137852778 GRCh38 Chromosome 6, 52454128: 52454128
7 EFHC1 NM_018100.3(EFHC1): c.883C> T (p.Gln295Ter) single nucleotide variant risk factor rs137852781 GRCh37 Chromosome 6, 52319052: 52319052
8 EFHC1 NM_018100.3(EFHC1): c.883C> T (p.Gln295Ter) single nucleotide variant risk factor rs137852781 GRCh38 Chromosome 6, 52454254: 52454254
9 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
10 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
11 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
12 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
13 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh37 Chromosome 6, 52354972: 52354972
14 EFHC1 NM_018100.3(EFHC1): c.1675T> C (p.Leu559=) single nucleotide variant Conflicting interpretations of pathogenicity rs145194882 GRCh38 Chromosome 6, 52490174: 52490174
15 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556761275 GRCh37 Chromosome 2, 152695629: 152695629
16 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556761275 GRCh38 Chromosome 2, 151839115: 151839115
17 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh37 Chromosome 6, 52303291: 52303291
18 EFHC1 NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly) single nucleotide variant Benign/Likely benign rs3804506 GRCh38 Chromosome 6, 52438493: 52438493
19 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh37 Chromosome 6, 52319085: 52319085
20 EFHC1 NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu) single nucleotide variant Uncertain significance rs201263733 GRCh38 Chromosome 6, 52454287: 52454287
21 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh37 Chromosome 6, 52343862: 52343862
22 EFHC1 NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance rs377286138 GRCh38 Chromosome 6, 52479064: 52479064
23 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
24 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
25 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh37 Chromosome 2, 152955518: 152955518
26 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh38 Chromosome 2, 152099004: 152099004
27 GABRA1 NM_000806.5(GABRA1): c.-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375475234 GRCh38 Chromosome 5, 161850807: 161850807
28 GABRA1 NM_000806.5(GABRA1): c.-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375475234 GRCh37 Chromosome 5, 161277813: 161277813
29 EFHC1 NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs750899949 GRCh37 Chromosome 6, 52285251: 52285251
30 EFHC1 NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs750899949 GRCh38 Chromosome 6, 52420453: 52420453
31 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh37 Chromosome 6, 52288777: 52288777
32 EFHC1 NM_018100.3(EFHC1): c.97T> C (p.Tyr33His) single nucleotide variant Uncertain significance rs374402088 GRCh38 Chromosome 6, 52423979: 52423979
33 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh37 Chromosome 6, 52288831: 52288831
34 EFHC1 NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp) single nucleotide variant Uncertain significance rs374661645 GRCh38 Chromosome 6, 52424033: 52424033
35 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh38 Chromosome 6, 52424148: 52424148
36 EFHC1 NM_018100.3(EFHC1): c.266A> G (p.His89Arg) single nucleotide variant Uncertain significance rs543160745 GRCh37 Chromosome 6, 52288946: 52288946
37 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh38 Chromosome 6, 52438565: 52438565
38 EFHC1 NM_018100.3(EFHC1): c.547G> A (p.Val183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs769591944 GRCh37 Chromosome 6, 52303363: 52303363
39 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh37 Chromosome 6, 52317573: 52317573
40 EFHC1 NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139197513 GRCh38 Chromosome 6, 52452775: 52452775
41 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh38 Chromosome 6, 52454102: 52454102
42 EFHC1 NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln) single nucleotide variant Uncertain significance rs140476054 GRCh37 Chromosome 6, 52318900: 52318900
43 EFHC1 NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145754721 GRCh38 Chromosome 6, 52454150: 52454150
44 EFHC1 NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145754721 GRCh37 Chromosome 6, 52318948: 52318948
45 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh37 Chromosome 6, 52318986: 52318986
46 EFHC1 NM_018100.3(EFHC1): c.817G> T (p.Val273Leu) single nucleotide variant Uncertain significance rs369926953 GRCh38 Chromosome 6, 52454188: 52454188
47 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh38 Chromosome 6, 52465035: 52465035
48 EFHC1 NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance rs527295360 GRCh37 Chromosome 6, 52329833: 52329833
49 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh37 Chromosome 6, 52329890: 52329890
50 EFHC1 NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs371151471 GRCh38 Chromosome 6, 52465092: 52465092

Expression for Epilepsy, Myoclonic Juvenile

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Pathways for Epilepsy, Myoclonic Juvenile

GO Terms for Epilepsy, Myoclonic Juvenile

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