Epilepsy, Myoclonic Juvenile disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EJM1 MCID: EPL198 MIFTS: 30	Epilepsy, Myoclonic Juvenile (EJM1) Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

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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

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 recessive inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 254770

MeSH ⁴⁵ D020190

MedGen ⁴³ C0270853 C1850778

SNOMED-CT via HPO ⁷⁰ 230413002 230456007 258211005 more

EFO ¹⁷ EFO_0006572

UMLS ⁷⁴ C0270853

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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.

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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 13)

#	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	30.7	CACNB4 EFHC1
4	myoclonic epilepsy, juvenile 4	12.4
5	myoclonic epilepsy, juvenile 3	12.4
6	epilepsy, idiopathic generalized 11	11.1
7	epilepsy, idiopathic generalized 9	11.1
8	epilepsy, idiopathic generalized 13	11.1
9	juvenile absence epilepsy	11.1
10	early myoclonic encephalopathy	10.5
11	myoclonus	10.0
12	myoclonic epilepsy of unverricht and lundborg	10.0
13	adolescence-adult electroclinical syndrome	9.9	CACNB4 EFHC1

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

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Symptoms & Phenotypes for Epilepsy, Myoclonic Juvenile

Human phenotypes related to Epilepsy, Myoclonic Juvenile:

³³

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

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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

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Genetic Tests for Epilepsy, Myoclonic Juvenile

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Anatomical Context for Epilepsy, Myoclonic Juvenile

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Publications for Epilepsy, Myoclonic Juvenile

Articles related to Epilepsy, Myoclonic Juvenile:

#	Title	Authors	Year
1	Cortical myoclonus in Janz syndrome. ( 11595137 )	Panzica F...Tassinari CA	2001
2	Juvenile myoclonic epilepsy: the janz syndrome ( 11080243 )	Manford M.	2000

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Genes for Epilepsy, Myoclonic Juvenile

Genes related to Epilepsy, Myoclonic Juvenile (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EFHC1	EF-Hand Domain Containing 1	Protein Coding	1275	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Susceptibility factor ⁵⁸ Risk factor ⁶	18505993 15258581 8737649 (more) 12439895 17159113
2	EJM9	Epilepsy, Juvenile Myoclonic, Susceptiblity To, 9	Genetic Locus	50	MalaCards inferred ⁴²
3	EJM4	Myoclonic Epilepsy, Juvenile, 4	Genetic Locus	50	MalaCards inferred ⁴²
4	EJM3	Epilepsy, Juvenile Myoclonic 3	Genetic Locus	50	MalaCards inferred ⁴²
5	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	25	Risk factor ⁶

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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 614)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CACNB4	NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200092211	GRCh37	Chromosome 2, 152955521: 152955521
2	CACNB4	NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200092211	GRCh38	Chromosome 2, 152099007: 152099007
3	EFHC1	NM_018100.3(EFHC1): c.1675T> C (p.Leu559=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145194882	GRCh37	Chromosome 6, 52354972: 52354972
4	EFHC1	NM_018100.3(EFHC1): c.1675T> C (p.Leu559=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145194882	GRCh38	Chromosome 6, 52490174: 52490174
5	CACNB4	NM_000726.4(CACNB4): c.*4T> C	single nucleotide variant	Benign/Likely benign	rs556761275	GRCh37	Chromosome 2, 152695629: 152695629
6	CACNB4	NM_000726.4(CACNB4): c.*4T> C	single nucleotide variant	Benign/Likely benign	rs556761275	GRCh38	Chromosome 2, 151839115: 151839115
7	EFHC1	NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly)	single nucleotide variant	Benign/Likely benign	rs3804506	GRCh37	Chromosome 6, 52303291: 52303291
8	EFHC1	NM_018100.3(EFHC1): c.475C> G (p.Arg159Gly)	single nucleotide variant	Benign/Likely benign	rs3804506	GRCh38	Chromosome 6, 52438493: 52438493
9	EFHC1	NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu)	single nucleotide variant	Uncertain significance	rs201263733	GRCh37	Chromosome 6, 52319085: 52319085
10	EFHC1	NM_018100.3(EFHC1): c.916A> G (p.Lys306Glu)	single nucleotide variant	Uncertain significance	rs201263733	GRCh38	Chromosome 6, 52454287: 52454287
11	EFHC1	NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys)	single nucleotide variant	Uncertain significance	rs377286138	GRCh37	Chromosome 6, 52343862: 52343862
12	EFHC1	NM_018100.3(EFHC1): c.1306C> T (p.Arg436Cys)	single nucleotide variant	Uncertain significance	rs377286138	GRCh38	Chromosome 6, 52479064: 52479064
13	CACNB4	NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200662010	GRCh37	Chromosome 2, 152955482: 152955482
14	CACNB4	NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200662010	GRCh38	Chromosome 2, 152098968: 152098968
15	CACNB4	NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs542973906	GRCh37	Chromosome 2, 152955518: 152955518
16	CACNB4	NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs542973906	GRCh38	Chromosome 2, 152099004: 152099004
17	GABRA1	NM_000806.5(GABRA1): c.-4C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs375475234	GRCh38	Chromosome 5, 161850807: 161850807
18	GABRA1	NM_000806.5(GABRA1): c.-4C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs375475234	GRCh37	Chromosome 5, 161277813: 161277813
19	EFHC1	NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs750899949	GRCh37	Chromosome 6, 52285251: 52285251
20	EFHC1	NM_018100.3(EFHC1): c.43A> G (p.Thr15Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs750899949	GRCh38	Chromosome 6, 52420453: 52420453
21	EFHC1	NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile)	single nucleotide variant	Uncertain significance	rs779993809	GRCh38	Chromosome 6, 52423950: 52423950
22	EFHC1	NM_018100.3(EFHC1): c.68C> T (p.Thr23Ile)	single nucleotide variant	Uncertain significance	rs779993809	GRCh37	Chromosome 6, 52288748: 52288748
23	EFHC1	NM_018100.3(EFHC1): c.97T> C (p.Tyr33His)	single nucleotide variant	Uncertain significance	rs374402088	GRCh37	Chromosome 6, 52288777: 52288777
24	EFHC1	NM_018100.3(EFHC1): c.97T> C (p.Tyr33His)	single nucleotide variant	Uncertain significance	rs374402088	GRCh38	Chromosome 6, 52423979: 52423979
25	EFHC1	NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp)	single nucleotide variant	Uncertain significance	rs374661645	GRCh37	Chromosome 6, 52288831: 52288831
26	EFHC1	NM_018100.3(EFHC1): c.151C> T (p.Arg51Trp)	single nucleotide variant	Uncertain significance	rs374661645	GRCh38	Chromosome 6, 52424033: 52424033
27	EFHC1	NM_018100.3(EFHC1): c.266A> G (p.His89Arg)	single nucleotide variant	Uncertain significance	rs543160745	GRCh38	Chromosome 6, 52424148: 52424148
28	EFHC1	NM_018100.3(EFHC1): c.266A> G (p.His89Arg)	single nucleotide variant	Uncertain significance	rs543160745	GRCh37	Chromosome 6, 52288946: 52288946
29	EFHC1	NM_018100.3(EFHC1): c.547G> A (p.Val183Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs769591944	GRCh38	Chromosome 6, 52438565: 52438565
30	EFHC1	NM_018100.3(EFHC1): c.547G> A (p.Val183Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs769591944	GRCh37	Chromosome 6, 52303363: 52303363
31	EFHC1	NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139197513	GRCh37	Chromosome 6, 52317573: 52317573
32	EFHC1	NM_018100.3(EFHC1): c.661C> T (p.Arg221Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139197513	GRCh38	Chromosome 6, 52452775: 52452775
33	EFHC1	NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln)	single nucleotide variant	Uncertain significance	rs140476054	GRCh38	Chromosome 6, 52454102: 52454102
34	EFHC1	NM_018100.3(EFHC1): c.731G> A (p.Arg244Gln)	single nucleotide variant	Uncertain significance	rs140476054	GRCh37	Chromosome 6, 52318900: 52318900
35	EFHC1	NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145754721	GRCh38	Chromosome 6, 52454150: 52454150
36	EFHC1	NM_018100.3(EFHC1): c.779G> A (p.Arg260Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145754721	GRCh37	Chromosome 6, 52318948: 52318948
37	EFHC1	NM_018100.3(EFHC1): c.817G> T (p.Val273Leu)	single nucleotide variant	Uncertain significance	rs369926953	GRCh37	Chromosome 6, 52318986: 52318986
38	EFHC1	NM_018100.3(EFHC1): c.817G> T (p.Val273Leu)	single nucleotide variant	Uncertain significance	rs369926953	GRCh38	Chromosome 6, 52454188: 52454188
39	EFHC1	NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp)	single nucleotide variant	Uncertain significance	rs527295360	GRCh38	Chromosome 6, 52465035: 52465035
40	EFHC1	NM_018100.3(EFHC1): c.1057C> T (p.Arg353Trp)	single nucleotide variant	Uncertain significance	rs527295360	GRCh37	Chromosome 6, 52329833: 52329833
41	EFHC1	NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371151471	GRCh37	Chromosome 6, 52329890: 52329890
42	EFHC1	NM_018100.3(EFHC1): c.1114C> T (p.Arg372Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371151471	GRCh38	Chromosome 6, 52465092: 52465092
43	EFHC1	NM_018100.3(EFHC1): c.1370G> T (p.Arg457Leu)	single nucleotide variant	Uncertain significance	rs369468811	GRCh38	Chromosome 6, 52479128: 52479128
44	EFHC1	NM_018100.3(EFHC1): c.1370G> T (p.Arg457Leu)	single nucleotide variant	Uncertain significance	rs369468811	GRCh37	Chromosome 6, 52343926: 52343926
45	EFHC1	NM_018100.3(EFHC1): c.1451A> G (p.Tyr484Cys)	single nucleotide variant	Uncertain significance	rs201261630	GRCh37	Chromosome 6, 52344007: 52344007
46	EFHC1	NM_018100.3(EFHC1): c.1451A> G (p.Tyr484Cys)	single nucleotide variant	Uncertain significance	rs201261630	GRCh38	Chromosome 6, 52479209: 52479209
47	EFHC1	NM_018100.3(EFHC1): c.1557C> T (p.Asn519=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs773385237	GRCh37	Chromosome 6, 52344502: 52344502
48	EFHC1	NM_018100.3(EFHC1): c.1557C> T (p.Asn519=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs773385237	GRCh38	Chromosome 6, 52479704: 52479704
49	EFHC1	NM_018100.3(EFHC1): c.1612C> T (p.Arg538Ter)	single nucleotide variant	Pathogenic	rs149998588	GRCh38	Chromosome 6, 52479759: 52479759
50	EFHC1	NM_018100.3(EFHC1): c.1612C> T (p.Arg538Ter)	single nucleotide variant	Pathogenic	rs149998588	GRCh37	Chromosome 6, 52344557: 52344557

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Expression for Epilepsy, Myoclonic Juvenile

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

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Pathways for Epilepsy, Myoclonic Juvenile

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GO Terms for Epilepsy, Myoclonic Juvenile

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Epilepsy, Myoclonic Juvenile (EJM1)

Aliases & Classifications for Epilepsy, Myoclonic Juvenile

MalaCards integrated aliases for Epilepsy, Myoclonic Juvenile:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epilepsy, Myoclonic Juvenile

Related Diseases for Epilepsy, Myoclonic Juvenile

Diseases in the Epilepsy, Myoclonic Juvenile family:

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

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

Symptoms & Phenotypes for Epilepsy, Myoclonic Juvenile

Human phenotypes related to Epilepsy, Myoclonic Juvenile:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Epilepsy, Myoclonic Juvenile:

Drugs & Therapeutics for Epilepsy, Myoclonic Juvenile

Interventional clinical trials:

Genetic Tests for Epilepsy, Myoclonic Juvenile

Anatomical Context for Epilepsy, Myoclonic Juvenile

Publications for Epilepsy, Myoclonic Juvenile

Articles related to Epilepsy, Myoclonic Juvenile:

Genes for Epilepsy, Myoclonic Juvenile

Genes related to Epilepsy, Myoclonic Juvenile (4 elite genes):

Variations for Epilepsy, Myoclonic Juvenile

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

ClinVar genetic disease variations for Epilepsy, Myoclonic Juvenile:

Expression for Epilepsy, Myoclonic Juvenile

Pathways for Epilepsy, Myoclonic Juvenile

GO Terms for Epilepsy, Myoclonic Juvenile

Sources for Epilepsy, Myoclonic Juvenile