EIG11
MCID: EPL084
MIFTS: 24

Epilepsy, Idiopathic Generalized 11 (EIG11)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 11

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 11:

Name: Epilepsy, Idiopathic Generalized 11 57 72
Epilepsy, Idiopathic Generalized, Susceptibility to, 11 57 13 6
Epilepsy, Juvenile Absence 2 57 29 6
Eig11 57 12 72
Idiopathic Generalized Epilepsy 11 12 15
Epilepsy, Juvenile Myoclonic 8 57 6
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 11 39
Susceptibility to Idiopathic Generalized Epilepsy 11 72
Epilepsy, Juvenile Myoclonic, Susceptibility to, 8 57
Epilepsy, Juvenile Absence, Susceptibility to, 2 57
Susceptibility to Juvenile Myoclonic Epilepsy 8 72
Susceptibility to Juvenile Absence Epilepsy 2 72
Juvenile Myoclonic Epilepsy 8 72
Juvenile Absence Epilepsy 2 72
Eja2 72
Jae2 72
Ejm8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 : 72 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. An important gene associated with Epilepsy, Idiopathic Generalized 11 is CLCN2 (Chloride Voltage-Gated Channel 2). Related phenotypes are generalized myoclonic seizure and generalized non-motor (absence) seizure

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the CLCN2 on chromosome 3q27.1.

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 EIG1 (600669), EJM1 (254770), and EJA1 (607631). (607628) (Updated 20-May-2021)

Related Diseases for Epilepsy, Idiopathic Generalized 11

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 11

Human phenotypes related to Epilepsy, Idiopathic Generalized 11:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 CLCN2 YWHAZ

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

Publications for Epilepsy, Idiopathic Generalized 11

Articles related to Epilepsy, Idiopathic Generalized 11:

# Title Authors PMID Year
1
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 6 57
19191339 2009
2
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. 57
20037607 2010
3
CLCN2 variants in idiopathic generalized epilepsy. 57
19710712 2009
4
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 57
12612585 2003
5
Genome search for susceptibility loci of common idiopathic generalised epilepsies. 57
10888596 2000
6
Possibilities of non-pharmacological conservative treatment of epilepsy. 61
10091849 1999

Variations for Epilepsy, Idiopathic Generalized 11

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN2 NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) SNV risk factor 9038 rs71318369 GRCh37: 3:184075476-184075476
GRCh38: 3:184357688-184357688
2 CLCN2 NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) SNV risk factor 9039 rs137852682 GRCh37: 3:184071575-184071575
GRCh38: 3:184353787-184353787
3 CLCN2 NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) SNV Uncertain significance 9038 rs71318369 GRCh37: 3:184075476-184075476
GRCh38: 3:184357688-184357688
4 CLCN2 NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) SNV Uncertain significance 9038 rs71318369 GRCh37: 3:184075476-184075476
GRCh38: 3:184357688-184357688
5 CLCN2 NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro) SNV Uncertain significance 598765 rs770392085 GRCh37: 3:184076036-184076036
GRCh38: 3:184358248-184358248
6 CLCN2 NM_004366.6(CLCN2):c.597dup (p.Met200fs) Duplication Uncertain significance 9035 rs515726131 GRCh37: 3:184075767-184075768
GRCh38: 3:184357979-184357980
7 CLCN2 NM_004366.6(CLCN2):c.221-14_221-4del Deletion Uncertain significance 9036 rs515726132 GRCh37: 3:184076605-184076615
GRCh38: 3:184358817-184358827
8 CLCN2 NM_004366.6(CLCN2):c.2144G>A (p.Gly715Glu) SNV Uncertain significance 9037 rs137852681 GRCh37: 3:184070598-184070598
GRCh38: 3:184352810-184352810
9 CLCN2 NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) SNV Benign 217777 rs111656822 GRCh37: 3:184070901-184070901
GRCh38: 3:184353113-184353113

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

72
# Symbol AA change Variation ID SNP ID
1 CLCN2 p.Arg235Gln VAR_057889 rs71318369
2 CLCN2 p.Arg577Gln VAR_057890 rs137852682

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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