EIG8
MCID: EPL142
MIFTS: 20

Epilepsy Idiopathic Generalized 8 (EIG8) malady

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy Idiopathic Generalized 8

Aliases & Descriptions for Epilepsy Idiopathic Generalized 8:

Name: Epilepsy Idiopathic Generalized 8 54
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 24 13
Susceptibility to Idiopathic Generalized Epilepsy 8 66 29
Eig8 24 66
Epilepsy, Idiopathic Generalized 8 66

Classifications:



External Ids:

OMIM 54 612899
MedGen 40 C2752062
MeSH 42 D004829

Summaries for Epilepsy Idiopathic Generalized 8

UniProtKB/Swiss-Prot : 66 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). The drugs Lacosamide and Anticonvulsants have been mentioned in the context of this disorder. 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

Drugs for Epilepsy Idiopathic Generalized 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lacosamide Approved Phase 3 860352-01-8, 175481-36-4 219078
2 Anticonvulsants Phase 3
3 Pharmaceutical Solutions Phase 3
4 Neuroserpin
5 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study to Assess the Safety and Efficacy of Lacosamide Versus Placebo (a Pill Without Active Medication) in Patients With Idiopathic Generalised Epilepsy Who Are Already Taking Anti-epileptic Medications Recruiting NCT02408523 Phase 3
2 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3
3 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Epilepsy Idiopathic Generalized 8

Genetic Tests for Epilepsy Idiopathic Generalized 8

Genetic tests related to Epilepsy Idiopathic Generalized 8:

id Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized 8 29
2 Epilepsy, Idiopathic Generalized, Susceptibility to, 8 24 CASR

Anatomical Context for Epilepsy Idiopathic Generalized 8

MalaCards organs/tissues related to Epilepsy Idiopathic Generalized 8:

39
Brain

Publications for Epilepsy Idiopathic Generalized 8

Variations for Epilepsy Idiopathic Generalized 8

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

66
id Symbol AA change Variation ID SNP ID
1 CASR p.Glu354Ala VAR_060206
2 CASR p.Ile686Val VAR_060207
3 CASR p.Arg898Gln VAR_060208
4 CASR p.Ala988Gly VAR_060209
5 CASR p.Ala988Val VAR_060210

ClinVar genetic disease variations for Epilepsy Idiopathic Generalized 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.2693G> A (p.Arg898Gln) single nucleotide variant risk factor rs121909269 GRCh37 Chromosome 3, 122003494: 122003494

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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