EIG7
MCID: EPL093
MIFTS: 22

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 57 29 6
Epilepsy, Idiopathic Generalized, Susceptibility to, 7 57 13
Epilepsy, Juvenile Myoclonic 57
Eig7 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
epilepsy, idiopathic generalized 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604827
MedGen 42 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
see juvenile myoclonic epilepsy


Clinical features from OMIM:

604827

Human phenotypes related to Epilepsy, Idiopathic Generalized 7:

32
# Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 generalized tonic-clonic seizures 32 HP:0002069

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 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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