MCID: EPL094
MIFTS: 23

Epilepsy, Juvenile Myoclonic 5 malady

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

Aliases & Classifications for Epilepsy, Juvenile Myoclonic 5

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Aliases & Descriptions for Epilepsy, Juvenile Myoclonic 5:

Name: Epilepsy, Juvenile Myoclonic 5 52
Epilepsy, Childhood Absence, Susceptibility to, 4 24 27 12
Susceptibility to Juvenile Myoclonic Epilepsy 5 70 27
Epilepsy, Childhood Absence 4 52 70
Eca4 24 70
 
Epilepsy, Idiopathic Generalized 13 70
Juvenile Myoclonic Epilepsy 5 70
Eig13 70
Ejm5 70

Classifications:



External Ids:

OMIM52 611136

Summaries for Epilepsy, Juvenile Myoclonic 5

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UniProtKB/Swiss-Prot:70 Epilepsy, childhood absence 4: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. Epilepsy, idiopathic generalized 13: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Juvenile myoclonic epilepsy 5: 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.

MalaCards based summary: Epilepsy, Juvenile Myoclonic 5, also known as epilepsy, childhood absence, susceptibility to, 4, is related to myoclonic epilepsy, juvenile 1. An important gene associated with Epilepsy, Juvenile Myoclonic 5 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit). Affiliated tissues include brain.

OMIM:52 Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called... (611136) more...

Related Diseases for Epilepsy, Juvenile Myoclonic 5

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Symptoms & Phenotypes for Epilepsy, Juvenile Myoclonic 5

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Clinical features from OMIM:

611136

Drugs & Therapeutics for Epilepsy, Juvenile Myoclonic 5

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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 Epilepsy, Juvenile Myoclonic 5

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Genetic tests related to Epilepsy, Juvenile Myoclonic 5:

id Genetic test Affiliating Genes
1 Epilepsy, Juvenile Myoclonic 527
2 Epilepsy, Childhood Absence 427
3 Epilepsy, Childhood Absence, Susceptibility to, 424 GABRA1

Anatomical Context for Epilepsy, Juvenile Myoclonic 5

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MalaCards organs/tissues related to Epilepsy, Juvenile Myoclonic 5:

36
Brain

Publications for Epilepsy, Juvenile Myoclonic 5

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Variations for Epilepsy, Juvenile Myoclonic 5

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Juvenile Myoclonic 5:

70
id Symbol AA change Variation ID SNP ID
1GABRA1p.Ala322AspVAR_013642rs121434579
2GABRA1p.Asp219AsnVAR_071810rs587777364

Clinvar genetic disease variations for Epilepsy, Juvenile Myoclonic 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GABRA1NC_000005.8insertionrisk factorrs587777363NCBI36Chr 5, 161897090: 161897091
2GABRA1NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn)SNVrisk factorrs587777364GRCh38Chr 5, 161882653: 161882653
3GABRA1NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp)SNVrisk factorrs121434579GRCh37Chr 5, 161322780: 161322780

Expression for genes affiliated with Epilepsy, Juvenile Myoclonic 5

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Search GEO for disease gene expression data for Epilepsy, Juvenile Myoclonic 5.

Pathways for genes affiliated with Epilepsy, Juvenile Myoclonic 5

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GO Terms for genes affiliated with Epilepsy, Juvenile Myoclonic 5

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Sources for Epilepsy, Juvenile Myoclonic 5

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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