EIG8
MCID: EPL208
MIFTS: 17

Epilepsy, Idiopathic Generalized 8 (EIG8)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 8

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 8:

Name: Epilepsy, Idiopathic Generalized 8 56 73 29 6
Eig8 56 12 73
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 56 13
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 8 39
Epilepsy Idiopathic Generalized, Susceptibility to, 8 56
Susceptibility to Idiopathic Generalized Epilepsy 8 73
Epilepsy Idiopathic Generalized 8 56
Idiopathic Generalized Epilepsy 8 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111322
OMIM 56 612899
OMIM Phenotypic Series 56 PS600669
MeSH 43 D004829
MedGen 41 C2752062

Summaries for Epilepsy, Idiopathic Generalized 8

UniProtKB/Swiss-Prot : 73 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 eig8. An important gene associated with Epilepsy, Idiopathic Generalized 8 is CASR (Calcium Sensing Receptor). Affiliated tissues include brain.

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1.

More information from OMIM: 612899 PS600669

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:

40
Brain

Publications for Epilepsy, Idiopathic Generalized 8

Articles related to Epilepsy, Idiopathic Generalized 8:

# Title Authors PMID Year
1
An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. 56 6
18756473 2008
2
Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif. 6
20798521 2010

Variations for Epilepsy, Idiopathic Generalized 8

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 8:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASR NM_000388.4(CASR):c.2693G>A (p.Arg898Gln)SNV Uncertain significance 8359 rs121909269 3:122003494-122003494 3:122284647-122284647
2 CASR NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)SNV Uncertain significance 463891 rs200771541 3:121980973-121980973 3:122262126-122262126

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

73
# 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

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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