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

MCID: EPL198 MIFTS: 28	Epilepsy, Myoclonic Juvenile Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 254770

MedGen ⁴² C0270853 C1850778

MeSH ⁴⁴ D020190

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 54200006 more

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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.

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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 Progressive Myoclonic Type 3	Progressive Myoclonic Epilepsy Type 5
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:

#	Related Disease	Score	Top Affiliating Genes
1	epilepsy, idiopathic generalized 10	31.3	CACNB4 EFHC1
2	epilepsy	29.1	CACNB4 EFHC1
3	myoclonic epilepsy, juvenile 4	12.2
4	myoclonic epilepsy, juvenile 3	12.2
5	adolescence-adult electroclinical syndrome	9.9	CACNB4 EFHC1
6	epilepsy, idiopathic generalized	9.7	CACNB4 EFHC1

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

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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 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

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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	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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Susceptibility factor ⁵⁷ Risk factor ⁶	20298421
2	EJM9	Epilepsy, Juvenile Myoclonic, Susceptiblity To, 9	Genetic Locus	50	MalaCards inferred ⁵⁷
3	EJM4	Myoclonic Epilepsy, Juvenile, 4	Genetic Locus	50	MalaCards inferred ⁵⁷
4	EJM3	Epilepsy, Juvenile Myoclonic 3	Genetic Locus	50	MalaCards inferred ⁵⁷
5	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	25	Risk factor ⁶	20298421

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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

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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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