EIG8
MCID: EPL142
MIFTS: 20

Epilepsy Idiopathic Generalized 8 (EIG8) malady

Categories: Genetic diseases (common), Neuronal diseases

Aliases & Classifications for Epilepsy Idiopathic Generalized 8

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Aliases & Descriptions for Epilepsy Idiopathic Generalized 8:

Name: Epilepsy Idiopathic Generalized 8 52
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 24 12
Susceptibility to Idiopathic Generalized Epilepsy 8 70 27
 
Eig8 24 70
Epilepsy, Idiopathic Generalized 8 70

Classifications:



External Ids:

OMIM52 612899
MedGen37 C2752062
MeSH39 D004829

Summaries for Epilepsy Idiopathic Generalized 8

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UniProtKB/Swiss-Prot:70 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:52 612899

Related Diseases for Epilepsy Idiopathic Generalized 8

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Symptoms & Phenotypes for Epilepsy Idiopathic Generalized 8

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Clinical features from OMIM:

612899

Drugs & Therapeutics for Epilepsy Idiopathic Generalized 8

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LacosamideapprovedPhase 379860352-01-8, 175481-36-4219078
Synonyms:
( )-(2R)-2-(acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-(Acetylamino)-N-benzyl-3-methoxypropanamide
(2R)-2-acetamido-N-benzyl-3-methoxypropanamide
175481-36-4
AC1L560M
ADD 234037
ADD-234037
AKOS005146274
AZD7762
CHEBI:188739
CHEMBL58323
CID219078
D07299
 
Erlosamide
Erlosamide [INN]
Erlosamide, Vimpat, Lacosamide
Harkoseride
I01-7424
LS-185541
Lacosamide
Lacosamide (USAN/INN)
Lacosamide [USAN]
S1253_Selleck
SPM 927
SPM-927
SPM-929
Vimpat
ZINC00007673
2AnticonvulsantsPhase 32695
3Pharmaceutical SolutionsPhase 38192
4Neuroserpin3
5AstragalusNutraceutical55

Interventional clinical trials:

idNameStatusNCT IDPhase
1A 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 MedicationsRecruitingNCT02408523Phase 3
2Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic SeizuresEnrolling by invitationNCT02408549Phase 3
3Genetic Disease Gene IdentificationUnknown statusNCT00916903

Search NIH Clinical Center for Epilepsy Idiopathic Generalized 8

Genetic Tests for Epilepsy Idiopathic Generalized 8

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Genetic tests related to Epilepsy Idiopathic Generalized 8:

id Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized 827
2 Epilepsy, Idiopathic Generalized, Susceptibility to, 824 CASR

Anatomical Context for Epilepsy Idiopathic Generalized 8

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MalaCards organs/tissues related to Epilepsy Idiopathic Generalized 8:

36
Brain

Publications for Epilepsy Idiopathic Generalized 8

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Variations for Epilepsy Idiopathic Generalized 8

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

70
id Symbol AA change Variation ID SNP ID
1CASRp.Glu354AlaVAR_060206
2CASRp.Ile686ValVAR_060207
3CASRp.Arg898GlnVAR_060208
4CASRp.Ala988GlyVAR_060209
5CASRp.Ala988ValVAR_060210

Clinvar genetic disease variations for Epilepsy Idiopathic Generalized 8:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CASRNM_ 000388.3(CASR): c.2693G> A (p.Arg898Gln)SNVrisk factorrs121909269GRCh37Chr 3, 122003494: 122003494

Expression for genes affiliated with Epilepsy Idiopathic Generalized 8

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

Pathways for genes affiliated with Epilepsy Idiopathic Generalized 8

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GO Terms for genes affiliated with Epilepsy Idiopathic Generalized 8

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Sources for Epilepsy Idiopathic Generalized 8

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet