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

EJM1 MCID: EPL198 MIFTS: 32	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

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:

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 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:

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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	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

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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	Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. ( 18505993 )	Medina MT...Delgado-Escueta AV	2008
2	Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. ( 17159113 )	Stogmann E...Zimprich A	2006
3	Mutations in EFHC1 cause juvenile myoclonic epilepsy. ( 15258581 )	Suzuki T...Yamakawa K	2004
4	Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. ( 12439895 )	Bai D...Delgado-Escueta AV	2002
5	Cortical myoclonus in Janz syndrome. ( 11595137 )	Panzica F...Tassinari CA	2001
6	Juvenile myoclonic epilepsy: the janz syndrome ( 11080243 )	Manford M	2000
7	Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. ( 8737649 )	Liu AW...Sparkes RS	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 )	Hamilton MS...Franklin IM	1990

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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	15258581 8737649 12439895 (more) 18505993 17159113
2	EJM4	Myoclonic Epilepsy, Juvenile, 4	Genetic Locus	50	MalaCards inferred ⁴²
3	EJM3	Epilepsy, Juvenile Myoclonic 3	Genetic Locus	50	MalaCards inferred ⁴²
4	EJM9	Epilepsy, Juvenile Myoclonic, Susceptiblity To, 9	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 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

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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