MCID: EPL091
MIFTS: 17

Epilepsy, Idiopathic Generalized 3

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 3

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 3:

Name: Epilepsy, Idiopathic Generalized 3 57
Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 9 57
Epilepsy, Idiopathic Generalized, Susceptibility to, 3 57
Epilepsy, Idiopathic Generalized Locus on Chromosome 9 57
Epilepsy, Idiopathic Generalized, Susceptibility to 3 13
Eig3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epilepsy, idiopathic generalized 3:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 3

MalaCards based summary : Epilepsy, Idiopathic Generalized 3, also known as epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9, 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 cutaneous photosensitivity and seizures

Description from OMIM: 608762

Related Diseases for Epilepsy, Idiopathic Generalized 3

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, generalized tonic-clonic (gtcs)
seizures, myoclonic
aura (in some instances)
photosensitivity
eeg shows nonspecific slow-wave paroxysms


Clinical features from OMIM:

608762

Human phenotypes related to Epilepsy, Idiopathic Generalized 3:

32
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 32 HP:0000992
2 seizures 32 HP:0001250
3 generalized tonic-clonic seizures 32 HP:0002069

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 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
Content
Loading form....