MCID: EPL094
MIFTS: 21

Epilepsy, Juvenile Myoclonic 5

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

Aliases & Classifications for Epilepsy, Juvenile Myoclonic 5

MalaCards integrated aliases for Epilepsy, Juvenile Myoclonic 5:

Name: Epilepsy, Juvenile Myoclonic 5 54 29
Epilepsy, Childhood Absence 4 54 71 29
Epilepsy, Childhood Absence, Susceptibility to, 4 24 13
Eca4 24 71
Susceptibility to Juvenile Myoclonic Epilepsy 5 71
Epilepsy, Idiopathic Generalized 13 71
Juvenile Myoclonic Epilepsy 5 71
Eig13 71
Ejm5 71

Classifications:



External Ids:

OMIM 54 611136

Summaries for Epilepsy, Juvenile Myoclonic 5

UniProtKB/Swiss-Prot : 71 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, is also known as epilepsy, childhood absence 4. An important gene associated with Epilepsy, Juvenile Myoclonic 5 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit). Affiliated tissues include brain.

OMIM : 54
Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see 600669). For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (600131) and JME (254770), respectively. (611136)

Symptoms & Phenotypes for Epilepsy, Juvenile Myoclonic 5

Clinical features from OMIM:

611136

Drugs & Therapeutics for Epilepsy, Juvenile Myoclonic 5

Interventional clinical trials:


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

Search NIH Clinical Center for Epilepsy, Juvenile Myoclonic 5

Genetic Tests for Epilepsy, Juvenile Myoclonic 5

Genetic tests related to Epilepsy, Juvenile Myoclonic 5:

id Genetic test Affiliating Genes
1 Epilepsy, Juvenile Myoclonic 5 29
2 Epilepsy, Childhood Absence 4 29
3 Epilepsy, Childhood Absence, Susceptibility to, 4 24 GABRA1

Anatomical Context for Epilepsy, Juvenile Myoclonic 5

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

39
Brain

Publications for Epilepsy, Juvenile Myoclonic 5

Variations for Epilepsy, Juvenile Myoclonic 5

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

71
id Symbol AA change Variation ID SNP ID
1 GABRA1 p.Ala322Asp VAR_013642 rs121434579
2 GABRA1 p.Asp219Asn VAR_071810 rs587777364

ClinVar genetic disease variations for Epilepsy, Juvenile Myoclonic 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GABRA1 NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp) single nucleotide variant risk factor rs121434579 GRCh37 Chromosome 5, 161322780: 161322780
2 GABRA1 NC_000005.10 insertion risk factor rs587777363 NCBI36 Chromosome 5, 161897090: 161897091
3 GABRA1 NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn) single nucleotide variant risk factor rs587777364 GRCh38 Chromosome 5, 161882653: 161882653
4 GABRA1 NM_000806.5(GABRA1): c.799C> A (p.Leu267Ile) single nucleotide variant Likely pathogenic rs796052492 GRCh37 Chromosome 5, 161317999: 161317999

Expression for Epilepsy, Juvenile Myoclonic 5

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

Pathways for Epilepsy, Juvenile Myoclonic 5

GO Terms for Epilepsy, Juvenile Myoclonic 5

Sources for Epilepsy, Juvenile Myoclonic 5

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