MCID: MYC070
MIFTS: 17

Myoclonic Epilepsy, Juvenile 1 malady

Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Myoclonic Epilepsy, Juvenile 1

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Myoclonic Epilepsy, Juvenile 1, Aliases & Descriptions:

Name: Myoclonic Epilepsy, Juvenile 1 45
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1 10
 
Epilepsy, Myoclonic Juvenile 45


Classifications:



External Ids:

OMIM45 254770

Summaries for Myoclonic Epilepsy, Juvenile 1

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OMIM:45 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 has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and generalized tonic-clonic seizures. An important gene associated with Myoclonic Epilepsy, Juvenile 1 is EFHC1 (EF-hand domain (C-terminal) containing 1).

Symptoms for Myoclonic Epilepsy, Juvenile 1

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Symptoms by clinical synopsis from OMIM:

254770

Clinical features from OMIM:

254770

HPO human phenotypes related to Myoclonic Epilepsy, Juvenile 1:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 generalized tonic-clonic seizures HP:0002069
4 absence seizures HP:0002121
5 status epilepticus HP:0002133
6 morning myoclonic jerks HP:0007000
7 eeg with generalized polyspikes HP:0012001

Drugs & Therapeutics for Myoclonic Epilepsy, Juvenile 1

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Drug clinical trials:

Search ClinicalTrials for Myoclonic Epilepsy, Juvenile 1

Search NIH Clinical Center for Myoclonic Epilepsy, Juvenile 1

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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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:

62
id Symbol AA change Variation ID SNP ID
1EFHC1p.Pro77ThrVAR_023619rs149055334
2EFHC1p.Asp210AsnVAR_023622
3EFHC1p.Arg221HisVAR_023623rs79761183
4EFHC1p.Asp253TyrVAR_023625
5EFHC1p.Arg353TrpVAR_043157
6EFHC1p.Arg118CysVAR_072108

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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Compounds 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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Products for genes affiliated with Myoclonic Epilepsy, Juvenile 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myoclonic Epilepsy, Juvenile 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet