EIG3
MCID: EPL091
MIFTS: 16

Epilepsy, Idiopathic Generalized 3 (EIG3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 3

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 3:

Name: Epilepsy, Idiopathic Generalized 3 58
Epilepsy, Idiopathic Generalized, Susceptibility to, 3 58 13
Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 9 58
Epilepsy, Idiopathic Generalized Locus on Chromosome 9 58
Eig3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
seizures may occur upon awakening or at any time during the day
onset in childhood or teenage years (7 to 16 years)


HPO:

33
epilepsy, idiopathic generalized 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 3

MalaCards based summary : Epilepsy, Idiopathic Generalized 3, also known as epilepsy, idiopathic generalized, susceptibility to, 3, is related to epilepsy, idiopathic generalized. An important gene associated with Epilepsy, Idiopathic Generalized 3 is EIG3 (Epilepsy, Idiopathic Generalized, Susceptibility To 3). Related phenotypes are seizures and generalized tonic-clonic seizures

Description from OMIM: 608762

Related Diseases for Epilepsy, Idiopathic Generalized 3

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 3

Human phenotypes related to Epilepsy, Idiopathic Generalized 3:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 generalized tonic-clonic seizures 33 HP:0002069
3 cutaneous photosensitivity 33 HP:0000992

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
photosensitivity
seizures, myoclonic
seizures, generalized tonic-clonic (gtcs)
aura (in some instances)
eeg shows nonspecific slow-wave paroxysms

Clinical features from OMIM:

608762

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 3

Genetic Tests for Epilepsy, Idiopathic Generalized 3

Anatomical Context for Epilepsy, Idiopathic Generalized 3

Publications for Epilepsy, Idiopathic Generalized 3

Variations for Epilepsy, Idiopathic Generalized 3

Expression for Epilepsy, Idiopathic Generalized 3

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 3.

Pathways for Epilepsy, Idiopathic Generalized 3

GO Terms for Epilepsy, Idiopathic Generalized 3

Sources for Epilepsy, Idiopathic Generalized 3

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
Content
Loading form....