EIG7
MCID: EPL093
MIFTS: 20

Epilepsy, Idiopathic Generalized 7 (EIG7)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 7

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 7:

Name: Epilepsy, Idiopathic Generalized 7 58 30 6
Epilepsy, Idiopathic Generalized, Susceptibility to, 7 58 13
Epilepsy, Juvenile Myoclonic 58
Eig7 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
epilepsy, idiopathic generalized 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 604827
MedGen 43 C2751729

Summaries for Epilepsy, Idiopathic Generalized 7

MalaCards based summary : Epilepsy, Idiopathic Generalized 7, also known as epilepsy, idiopathic generalized, susceptibility to, 7, is related to epilepsy, juvenile myoclonic 10 and epilepsy, juvenile myoclonic 9. An important gene associated with Epilepsy, Idiopathic Generalized 7 is CHRNA7 (Cholinergic Receptor Nicotinic Alpha 7 Subunit). Related phenotypes are myoclonus and generalized tonic-clonic seizures

Description from OMIM: 604827

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:

33
# Description HPO Frequency HPO Source Accession
1 myoclonus 33 HP:0001336
2 generalized tonic-clonic seizures 33 HP:0002069

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
see juvenile myoclonic epilepsy

Clinical features from OMIM:

604827

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 30

Anatomical Context for Epilepsy, Idiopathic Generalized 7

Publications for Epilepsy, Idiopathic Generalized 7

Articles related to Epilepsy, Idiopathic Generalized 7:

# Title Authors Year
1
Evolution of childhood absence epilepsy, juvenile myoclonic epilepsy and epilepsy with grand mal on awakening. ( 8184687 )
1994

Variations for Epilepsy, Idiopathic Generalized 7

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNA7 NM_000746.5(CHRNA7): c.241-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 15, 32403990: 32403990
2 CHRNA7 NM_000746.5(CHRNA7): c.241-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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