MCID: EPL084
MIFTS: 20

Epilepsy, Idiopathic Generalized 11

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 11

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 11:

Name: Epilepsy, Idiopathic Generalized 11 53 71
Epilepsy, Idiopathic Generalized, Susceptibility to, 11 53 13
Epilepsy, Juvenile Absence 2 53 28
Eig11 53 71
Susceptibility to Idiopathic Generalized Epilepsy 11 71
Epilepsy, Juvenile Myoclonic, Susceptibility to, 8 53
Epilepsy, Juvenile Absence, Susceptibility to, 2 53
Susceptibility to Juvenile Myoclonic Epilepsy 8 71
Susceptibility to Juvenile Absence Epilepsy 2 71
Epilepsy, Juvenile Myoclonic 8 53
Juvenile Myoclonic Epilepsy 8 71
Juvenile Absence Epilepsy 2 71
Eja2 71
Jae2 71
Ejm8 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset (6 to 35 years)
precipitated by sleep deprivation


HPO:

31
epilepsy, idiopathic generalized 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 11

UniProtKB/Swiss-Prot : 71 Epilepsy, idiopathic generalized 11: 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. Juvenile absence epilepsy 2: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. Juvenile myoclonic epilepsy 8: 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, Idiopathic Generalized 11, is also known as epilepsy, idiopathic generalized, susceptibility to, 11, and has symptoms including absence seizures, generalized myoclonic seizures and generalized tonic-clonic seizures on awakening. An important gene associated with Epilepsy, Idiopathic Generalized 11 is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include brain.

OMIM : 53 Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG). For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG (600669), EJM (254770), and EJA (607631). (607628)

Related Diseases for Epilepsy, Idiopathic Generalized 11

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 11

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
generalized tonic-clonic seizures (gtcs) on awakening
gtcs during 'leisure' time (evening)
myoclonic seizures may occur
absence seizures may occur


Clinical features from OMIM:

607628

Human phenotypes related to Epilepsy, Idiopathic Generalized 11:

31
# Description HPO Frequency HPO Source Accession
1 absence seizures 31 occasional (7.5%) HP:0002121
2 generalized myoclonic seizures 31 occasional (7.5%) HP:0002123
3 generalized tonic-clonic seizures on awakening 31 HP:0007193

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 11

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 11

Genetic Tests for Epilepsy, Idiopathic Generalized 11

Genetic tests related to Epilepsy, Idiopathic Generalized 11:

# Genetic test Affiliating Genes
1 Epilepsy, Juvenile Absence 2 28

Anatomical Context for Epilepsy, Idiopathic Generalized 11

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 11:

38
Brain

Publications for Epilepsy, Idiopathic Generalized 11

Variations for Epilepsy, Idiopathic Generalized 11

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 11:

71
# Symbol AA change Variation ID SNP ID
1 CLCN2 p.Arg235Gln VAR_057889 rs71318369
2 CLCN2 p.Arg577Gln VAR_057890 rs137852682

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.704G> A (p.Arg235Gln) single nucleotide variant risk factor rs71318369 GRCh37 Chromosome 3, 184075476: 184075476
2 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh37 Chromosome 3, 184071575: 184071575

Expression for Epilepsy, Idiopathic Generalized 11

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 11.

Pathways for Epilepsy, Idiopathic Generalized 11

GO Terms for Epilepsy, Idiopathic Generalized 11

Sources for Epilepsy, Idiopathic Generalized 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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