EIG8
MCID: EPL208
MIFTS: 14

Epilepsy, Idiopathic Generalized 8 (EIG8)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 8

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 8:

Name: Epilepsy, Idiopathic Generalized 8 57 75 29 6
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 57 13
Eig8 57 75
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 8 40
Epilepsy Idiopathic Generalized, Susceptibility to, 8 57
Susceptibility to Idiopathic Generalized Epilepsy 8 75
Epilepsy Idiopathic Generalized 8 57

Classifications:



External Ids:

OMIM 57 612899
MedGen 42 C2752062
MeSH 44 D004829

Summaries for Epilepsy, Idiopathic Generalized 8

UniProtKB/Swiss-Prot : 75 Epilepsy, idiopathic generalized 8: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures.

MalaCards based summary : Epilepsy, Idiopathic Generalized 8, is also known as epilepsy, idiopathic generalized, susceptibility to, 8. An important gene associated with Epilepsy, Idiopathic Generalized 8 is CASR (Calcium Sensing Receptor). Affiliated tissues include brain.

Description from OMIM: 612899

Related Diseases for Epilepsy, Idiopathic Generalized 8

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 8

Clinical features from OMIM:

612899

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 8

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 8

Genetic Tests for Epilepsy, Idiopathic Generalized 8

Genetic tests related to Epilepsy, Idiopathic Generalized 8:

# Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized 8 29 CASR

Anatomical Context for Epilepsy, Idiopathic Generalized 8

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 8:

41
Brain

Publications for Epilepsy, Idiopathic Generalized 8

Variations for Epilepsy, Idiopathic Generalized 8

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 8:

75
# Symbol AA change Variation ID SNP ID
1 CASR p.Glu354Ala VAR_060206
2 CASR p.Ile686Val VAR_060207 rs753013993
3 CASR p.Arg898Gln VAR_060208 rs121909269
4 CASR p.Ala988Gly VAR_060209
5 CASR p.Ala988Val VAR_060210 rs759027000

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.2693G> A (p.Arg898Gln) single nucleotide variant Uncertain significance rs121909269 GRCh37 Chromosome 3, 122003494: 122003494
2 CASR NM_000388.3(CASR): c.2693G> A (p.Arg898Gln) single nucleotide variant Uncertain significance rs121909269 GRCh38 Chromosome 3, 122284647: 122284647

Expression for Epilepsy, Idiopathic Generalized 8

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 8.

Pathways for Epilepsy, Idiopathic Generalized 8

GO Terms for Epilepsy, Idiopathic Generalized 8

Sources for Epilepsy, Idiopathic Generalized 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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