EIG7
MCID: EPL093
MIFTS: 21

Epilepsy, Idiopathic Generalized 7 (EIG7)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 7

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 7:

Name: Epilepsy, Idiopathic Generalized 7 57 29 6
Epilepsy, Idiopathic Generalized, Susceptibility to, 7 57 13
Idiopathic Generalized Epilepsy 7 12 15
Eig7 57 12
Epilepsy, Juvenile Myoclonic 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
epilepsy, idiopathic generalized 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111321
OMIM® 57 604827
OMIM Phenotypic Series 57 PS254770 PS600669
MedGen 41 C2751729

Summaries for Epilepsy, Idiopathic Generalized 7

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in variation in a region on chromosome 15q14.

MalaCards based summary : Epilepsy, Idiopathic Generalized 7, also known as epilepsy, idiopathic generalized, susceptibility to, 7, is related to epilepsy, idiopathic generalized and epilepsy, idiopathic generalized 10. An important gene associated with Epilepsy, Idiopathic Generalized 7 is CHRNA7 (Cholinergic Receptor Nicotinic Alpha 7 Subunit). Related phenotypes are myoclonus and bilateral tonic-clonic seizure

More information from OMIM: 604827 PS254770 PS600669

Related Diseases for Epilepsy, Idiopathic Generalized 7

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 7:



Diseases related to Epilepsy, Idiopathic Generalized 7

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 7

Human phenotypes related to Epilepsy, Idiopathic Generalized 7:

31
# Description HPO Frequency HPO Source Accession
1 myoclonus 31 HP:0001336
2 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
see juvenile myoclonic epilepsy

Clinical features from OMIM®:

604827 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 7

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 7

Genetic Tests for Epilepsy, Idiopathic Generalized 7

Genetic tests related to Epilepsy, Idiopathic Generalized 7:

# Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized 7 29

Anatomical Context for Epilepsy, Idiopathic Generalized 7

Publications for Epilepsy, Idiopathic Generalized 7

Articles related to Epilepsy, Idiopathic Generalized 7:

# Title Authors PMID Year
1
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. 57
19592580 2009
2
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. 57
19136953 2009
3
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. 57
9259280 1997
4
Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15. 57
9262125 1997
5
Natural course and predictors of spontaneous seizure remission in idiopathic generalized epilepsy: 7-27 years of follow-up. 61
24907182 2014

Variations for Epilepsy, Idiopathic Generalized 7

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNA7 NM_000746.6(CHRNA7):c.241-1G>A SNV Pathogenic 560979 rs1566846736 GRCh37: 15:32403990-32403990
GRCh38: 15:32111789-32111789

Expression for Epilepsy, Idiopathic Generalized 7

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 7.

Pathways for Epilepsy, Idiopathic Generalized 7

GO Terms for Epilepsy, Idiopathic Generalized 7

Sources for Epilepsy, Idiopathic Generalized 7

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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