EJM8
MCID: EPL084
MIFTS: 22

Epilepsy, Idiopathic Generalized 11 (EJM8)

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 58 76
Epilepsy, Juvenile Absence 2 58 30 6
Epilepsy, Idiopathic Generalized, Susceptibility to, 11 58 13
Epilepsy, Juvenile Myoclonic 8 58 6
Eig11 58 76
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 11 ) 41
Susceptibility to Idiopathic Generalized Epilepsy 11 76
Epilepsy, Juvenile Myoclonic, Susceptibility to, 8 58
Epilepsy, Juvenile Absence, Susceptibility to, 2 58
Susceptibility to Juvenile Myoclonic Epilepsy 8 76
Susceptibility to Juvenile Absence Epilepsy 2 76
Juvenile Myoclonic Epilepsy 8 76
Juvenile Absence Epilepsy 2 76
Eja2 76
Jae2 76
Ejm8 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, idiopathic generalized 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 11

UniProtKB/Swiss-Prot : 76 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 generalized myoclonic seizures and absence seizure

OMIM : 58 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

Human phenotypes related to Epilepsy, Idiopathic Generalized 11:

33
# Description HPO Frequency HPO Source Accession
1 generalized myoclonic seizures 33 occasional (7.5%) HP:0002123
2 absence seizure 33 occasional (7.5%) HP:0002121
3 generalized tonic-clonic seizures on awakening 33 HP:0007193

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Epilepsy, Idiopathic Generalized 11

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

42
Brain

Publications for Epilepsy, Idiopathic Generalized 11

Articles related to Epilepsy, Idiopathic Generalized 11:

# Title Authors Year
1
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. ( 19191339 )
2009
2
CLCN2 variants in idiopathic generalized epilepsy. ( 19710712 )
2009
3
Leukoencephalopathy upon disruption of the chloride channel ClC-2. ( 17567819 )
2007
4
Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies. ( 15252188 )
2004

Variations for Epilepsy, Idiopathic Generalized 11

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

76
# 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 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.597dupG (p.Met200Aspfs) duplication Conflicting interpretations of pathogenicity rs515726131 GRCh37 Chromosome 3, 184075768: 184075768
2 CLCN2 NM_004366.5(CLCN2): c.597dupG (p.Met200Aspfs) duplication Conflicting interpretations of pathogenicity rs515726131 GRCh38 Chromosome 3, 184357980: 184357980
3 CLCN2 NM_004366.5(CLCN2): c.221-14_221-4delTTCCCTGCACC deletion Uncertain significance rs515726132 GRCh37 Chromosome 3, 184076605: 184076615
4 CLCN2 NM_004366.5(CLCN2): c.221-14_221-4delTTCCCTGCACC deletion Uncertain significance rs515726132 GRCh38 Chromosome 3, 184358817: 184358827
5 CLCN2 NM_004366.5(CLCN2): c.2144G> A (p.Gly715Glu) single nucleotide variant Uncertain significance rs137852681 GRCh37 Chromosome 3, 184070598: 184070598
6 CLCN2 NM_004366.5(CLCN2): c.2144G> A (p.Gly715Glu) single nucleotide variant Uncertain significance rs137852681 GRCh38 Chromosome 3, 184352810: 184352810
7 CLCN2 NM_004366.5(CLCN2): c.704G> A (p.Arg235Gln) single nucleotide variant Uncertain significance rs71318369 GRCh37 Chromosome 3, 184075476: 184075476
8 CLCN2 NM_004366.5(CLCN2): c.704G> A (p.Arg235Gln) single nucleotide variant Uncertain significance rs71318369 GRCh38 Chromosome 3, 184357688: 184357688
9 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh37 Chromosome 3, 184071575: 184071575
10 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh38 Chromosome 3, 184353787: 184353787
11 CLCN2 NM_004366.5(CLCN2): c.2063G> A (p.Arg688Gln) single nucleotide variant Benign rs111656822 GRCh38 Chromosome 3, 184353113: 184353113
12 CLCN2 NM_004366.5(CLCN2): c.2063G> A (p.Arg688Gln) single nucleotide variant Benign rs111656822 GRCh37 Chromosome 3, 184070901: 184070901
13 CLCN2 NM_004366.6(CLCN2): c.415A> C (p.Thr139Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 184076036: 184076036
14 CLCN2 NM_004366.6(CLCN2): c.415A> C (p.Thr139Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 184358248: 184358248

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....