MCID: MYC070
MIFTS: 24

Myoclonic Epilepsy, Juvenile 1 malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Blood 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 51
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 12
Susceptibility to Juvenile Myoclonic Epilepsy 1 69
Juvenile Myoclonic Epilepsy 1 69
Myoclonic Epilepsy, Juvenile 67
 
Petit Mal Impulsive 69
Janz Syndrome 69
Ejm1 69
Jme 69

Characteristics:

HPO:

63
myoclonic epilepsy, juvenile 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 254770
MeSH38 D020190

Summaries for Myoclonic Epilepsy, Juvenile 1

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OMIM:51 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 epilepsy, and has symptoms including generalized tonic-clonic seizures, absence seizures and status epilepticus. An important gene associated with Myoclonic Epilepsy, Juvenile 1 is EFHC1 (EF-Hand Domain Containing 1). Related mouse phenotype muscle.

UniProtKB/Swiss-Prot:69 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.

NIH Rare Diseases:47 Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. Last updated: 3/16/2016

Related Diseases for Myoclonic Epilepsy, Juvenile 1

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Symptoms 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:

 63
id Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures63 HP:0002069
2 absence seizures63 HP:0002121
3 status epilepticus63 HP:0002133
4 morning myoclonic jerks63 HP:0007000
5 eeg with generalized polyspikes63 HP:0012001

UMLS symptoms related to Myoclonic Epilepsy, Juvenile 1:


myoclonus, seizures, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood

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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Animal Models for Myoclonic Epilepsy, Juvenile 1 or affiliated genes

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MGI Mouse Phenotypes related to Myoclonic Epilepsy, Juvenile 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1CACNB4, EFHC1

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:

69
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
1CACNB4NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe)SNVPathogenic, risk 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet