EIG15
MCID: EPL236
MIFTS: 11

Epilepsy, Idiopathic Generalized 15 (EIG15)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 15

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 15:

Name: Epilepsy, Idiopathic Generalized 15 58
Epilepsy, Idiopathic Generalized, Susceptibility to, 15 58 6
Eig15 58

Classifications:



External Ids:

OMIM 58 618357

Summaries for Epilepsy, Idiopathic Generalized 15

OMIM : 58 Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizure disorder characterized by onset of variable types of seizures in the first decade. Absence seizures are the most common manifestation, but most patients also develop other types, including clonic or generalized tonic-clonic seizures. EEG tends to show 3-Hz spike-wave discharges, whereas brain imaging is normal. The majority of patients also have developmental delay associated with impaired intellectual development apparent from infancy or early childhood (summary by Rudolf et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (600669). (618357)

MalaCards based summary : Epilepsy, Idiopathic Generalized 15, is also known as epilepsy, idiopathic generalized, susceptibility to, 15. An important gene associated with Epilepsy, Idiopathic Generalized 15 is RORB (RAR Related Orphan Receptor B). Affiliated tissues include brain.

Related Diseases for Epilepsy, Idiopathic Generalized 15

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 15

Clinical features from OMIM:

618357

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 15

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 15

Genetic Tests for Epilepsy, Idiopathic Generalized 15

Anatomical Context for Epilepsy, Idiopathic Generalized 15

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 15:

42
Brain

Publications for Epilepsy, Idiopathic Generalized 15

Variations for Epilepsy, Idiopathic Generalized 15

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RORB NM_006914.3(RORB): c.218T> C (p.Leu73Pro) single nucleotide variant Uncertain significance rs869312971 GRCh37 Chromosome 9, 77249671: 77249671
2 RORB NM_006914.3(RORB): c.218T> C (p.Leu73Pro) single nucleotide variant Uncertain significance rs869312971 GRCh38 Chromosome 9, 74634755: 74634755
3 RORB NM_006914.3(RORB): c.1249_1251delACG (p.Thr417del) deletion Likely pathogenic rs869312972 GRCh37 Chromosome 9, 77300403: 77300405
4 RORB NM_006914.3(RORB): c.1249_1251delACG (p.Thr417del) deletion Likely pathogenic rs869312972 GRCh38 Chromosome 9, 74685487: 74685489
5 RORB NM_006914.4(RORB): c.196C> T (p.Arg66Ter) single nucleotide variant risk factor GRCh38 Chromosome 9, 74634733: 74634733
6 RORB NM_006914.4(RORB): c.196C> T (p.Arg66Ter) single nucleotide variant risk factor GRCh37 Chromosome 9, 77249649: 77249649
7 RORB RORB, 52-KB DEL deletion risk factor

Expression for Epilepsy, Idiopathic Generalized 15

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 15.

Pathways for Epilepsy, Idiopathic Generalized 15

GO Terms for Epilepsy, Idiopathic Generalized 15

Sources for Epilepsy, Idiopathic Generalized 15

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