EJM1
MCID: MYC070
MIFTS: 24

Myoclonic Epilepsy, Juvenile 1 (EJM1) malady

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

Aliases & Classifications for Myoclonic Epilepsy, Juvenile 1

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Aliases & Descriptions for Myoclonic Epilepsy, Juvenile 1:

Name: Myoclonic Epilepsy, Juvenile 1 52
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 12
Susceptibility to Juvenile Myoclonic Epilepsy 1 70
Juvenile Myoclonic Epilepsy 1 70
Myoclonic Epilepsy, Juvenile 68
 
Petit Mal Impulsive 70
Janz Syndrome 70
Ejm1 70
Jme 70

Characteristics:

HPO:

64
myoclonic epilepsy, juvenile 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 254770
MeSH39 D020190

Summaries for Myoclonic Epilepsy, Juvenile 1

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OMIM:52 Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of... (254770) more...

MalaCards based summary: Myoclonic Epilepsy, Juvenile 1, also known as myoclonic epilepsy, juvenile, susceptibility to, 1, is related to epilepsy, generalized, with febrile seizures plus, type 5 and autoimmune thyroid disease 1, and has symptoms including myoclonus, generalized tonic-clonic seizures and absence seizures. An important gene associated with Myoclonic Epilepsy, Juvenile 1 is EFHC1 (EF-Hand Domain Containing 1). Related mouse phenotypes are Decreased viability of wild-type and TP53 knockout cells and muscle.

UniProtKB/Swiss-Prot:70 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 Myoclonic Epilepsy, Juvenile 1

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Graphical network of diseases related to Myoclonic Epilepsy, Juvenile 1:



Diseases related to myoclonic epilepsy, juvenile 1

Symptoms & Phenotypes for Myoclonic Epilepsy, Juvenile 1

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Symptoms by clinical synopsis from OMIM:

254770

Clinical features from OMIM:

254770

Human phenotypes related to Myoclonic Epilepsy, Juvenile 1:

 64
id Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures64 HP:0002069
2 absence seizures64 HP:0002121
3 status epilepticus64 HP:0002133
4 morning myoclonic jerks64 HP:0007000
5 eeg with generalized polyspikes64 HP:0012001

UMLS symptoms related to Myoclonic Epilepsy, Juvenile 1:


myoclonus

GenomeRNAi Phenotypes related to Myoclonic Epilepsy, Juvenile 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00196-A-19.9CACNB4, EFHC1

MGI Mouse Phenotypes related to Myoclonic Epilepsy, Juvenile 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1CACNB4, EFHC1

Drugs & Therapeutics for Myoclonic Epilepsy, Juvenile 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Physical Exercise in Subjects With Juvenile Myoclonic EpilepsyUnknown statusNCT01450423Phase 2

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Genetic Tests for Myoclonic Epilepsy, Juvenile 1

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Anatomical Context for Myoclonic Epilepsy, Juvenile 1

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Publications for Myoclonic Epilepsy, Juvenile 1

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Variations for Myoclonic Epilepsy, Juvenile 1

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UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy, Juvenile 1:

70
id Symbol AA change Variation ID SNP ID
1EFHC1p.Pro77ThrVAR_023619rs149055334
2EFHC1p.Asp210AsnVAR_023622rs137852777
3EFHC1p.Arg221HisVAR_023623rs79761183
4EFHC1p.Asp253TyrVAR_023625rs137852778
5EFHC1p.Arg353TrpVAR_043157rs527295360
6EFHC1p.Arg118CysVAR_072108rs764096785

Clinvar genetic disease variations for Myoclonic Epilepsy, Juvenile 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EFHC1NM_ 018100.3(EFHC1): c.685T> C (p.Phe229Leu)SNVrisk factorrs137852776GRCh37Chr 6, 52317597: 52317597
2EFHC1NM_ 018100.3(EFHC1): c.628G> A (p.Asp210Asn)SNVPathogenic, risk factorrs137852777GRCh37Chr 6, 52317540: 52317540
3CACNB4NM_ 000726.4(CACNB4): c.311G> T (p.Cys104Phe)SNVrisk factorrs1805031GRCh37Chr 2, 152737393: 152737393

Expression for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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Search GEO for disease gene expression data for Myoclonic Epilepsy, Juvenile 1.

Pathways for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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GO Terms for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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Sources for Myoclonic Epilepsy, Juvenile 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet