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

Aliases & Descriptions for Myoclonic Epilepsy, Juvenile 1:

Name: Myoclonic Epilepsy, Juvenile 1 54
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 13
Susceptibility to Juvenile Myoclonic Epilepsy 1 66
Juvenile Myoclonic Epilepsy 1 66
Myoclonic Epilepsy, Juvenile 69
Petit Mal Impulsive 66
Janz Syndrome 66
Ejm1 66
Jme 66

Characteristics:

HPO:

32
myoclonic epilepsy, juvenile 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 254770
MeSH 42 D020190

Summaries for Myoclonic Epilepsy, Juvenile 1

OMIM : 54 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 generalized tonic-clonic seizures, absence seizures and morning myoclonic jerks. An important gene associated with Myoclonic Epilepsy, Juvenile 1 is EFHC1 (EF-Hand Domain Containing 1). Related phenotypes are Decreased viability of wild-type and TP53 knockout cells and muscle

UniProtKB/Swiss-Prot : 66 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

Graphical network of the top 20 diseases related to Myoclonic Epilepsy, Juvenile 1:



Diseases related to Myoclonic Epilepsy, Juvenile 1

Symptoms & Phenotypes for Myoclonic Epilepsy, Juvenile 1

Symptoms by clinical synopsis from OMIM:

254770

Clinical features from OMIM:

254770

Human phenotypes related to Myoclonic Epilepsy, Juvenile 1:

32
id Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 absence seizures 32 HP:0002121
3 morning myoclonic jerks 32 HP:0007000
4 status epilepticus 32 HP:0002133
5 eeg with generalized polyspikes 32 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 8.62 CACNB4 EFHC1

MGI Mouse Phenotypes related to Myoclonic Epilepsy, Juvenile 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 CACNB4 EFHC1

Drugs & Therapeutics for Myoclonic Epilepsy, Juvenile 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2

Search NIH Clinical Center for Myoclonic Epilepsy, Juvenile 1

Genetic Tests for Myoclonic Epilepsy, Juvenile 1

Anatomical Context for Myoclonic Epilepsy, Juvenile 1

Publications for Myoclonic Epilepsy, Juvenile 1

Variations for Myoclonic Epilepsy, Juvenile 1

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

66
id 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

ClinVar genetic disease variations for Myoclonic Epilepsy, Juvenile 1:

6
id 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.628G> A (p.Asp210Asn) single nucleotide variant Pathogenic,risk factor rs137852777 GRCh37 Chromosome 6, 52317540: 52317540
3 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393

Expression for Myoclonic Epilepsy, Juvenile 1

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

Pathways for Myoclonic Epilepsy, Juvenile 1

GO Terms for Myoclonic Epilepsy, Juvenile 1

Sources for Myoclonic Epilepsy, Juvenile 1

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