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 57 75
Epilepsy, Juvenile Absence 2 57 29 6
Epilepsy, Idiopathic Generalized, Susceptibility to, 11 57 13
Epilepsy, Juvenile Myoclonic 8 57 6
Eig11 57 75
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 11 ) 40
Susceptibility to Idiopathic Generalized Epilepsy 11 75
Epilepsy, Juvenile Myoclonic, Susceptibility to, 8 57
Epilepsy, Juvenile Absence, Susceptibility to, 2 57
Susceptibility to Juvenile Myoclonic Epilepsy 8 75
Susceptibility to Juvenile Absence Epilepsy 2 75
Juvenile Myoclonic Epilepsy 8 75
Juvenile Absence Epilepsy 2 75
Eja2 75
Jae2 75
Ejm8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, idiopathic generalized 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 11

UniProtKB/Swiss-Prot : 75 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, juvenile absence 2. An important gene associated with Epilepsy, Idiopathic Generalized 11 is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include brain, and related phenotypes are absence seizures and generalized myoclonic seizures

OMIM : 57 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 absence seizures 32 occasional (7.5%) HP:0002121
2 generalized myoclonic seizures 32 occasional (7.5%) HP:0002123
3 generalized tonic-clonic seizures on awakening 32 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 29

Anatomical Context for Epilepsy, Idiopathic Generalized 11

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

41
Brain

Publications for Epilepsy, Idiopathic Generalized 11

Variations for Epilepsy, Idiopathic Generalized 11

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

75
# 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.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh37 Chromosome 3, 184071575: 184071575
2 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh38 Chromosome 3, 184353787: 184353787
3 CLCN2 NM_004366.5(CLCN2): c.2063G> A (p.Arg688Gln) single nucleotide variant Benign rs111656822 GRCh38 Chromosome 3, 184353113: 184353113
4 CLCN2 NM_004366.5(CLCN2): c.2063G> A (p.Arg688Gln) single nucleotide variant Benign rs111656822 GRCh37 Chromosome 3, 184070901: 184070901

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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