EIG15
MCID: EPL236
MIFTS: 36

Epilepsy, Idiopathic Generalized 15 (EIG15)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 15

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 15:

Name: Epilepsy, Idiopathic Generalized 15 57 72
Epilepsy, Idiopathic Generalized, Susceptibility to, 15 57 29 6
Eig15 57 12 72
Idiopathic Generalized Epilepsy 15 12 15

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
variable phenotype
de novo mutation (in some patients)
onset in first decade
seizures may initially be refractory to medication

Inheritance:
autosomal dominant


HPO:

31
epilepsy, idiopathic generalized 15:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Epilepsy, Idiopathic Generalized 15

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Idiopathic Generalized 15, also known as epilepsy, idiopathic generalized, susceptibility to, 15, is related to epilepsy, idiopathic generalized and epilepsy. An important gene associated with Epilepsy, Idiopathic Generalized 15 is RORB (RAR Related Orphan Receptor B), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include myeloid, and related phenotypes are global developmental delay and delayed speech and language development

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the RORB on chromosome 9q21.13.

UniProtKB/Swiss-Prot : 72 Epilepsy, idiopathic generalized 15: An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG15 is characterized by onset of variable types of seizures in the first decade of life.

Related Diseases for Epilepsy, Idiopathic Generalized 15

Diseases in the Epilepsy, Idiopathic Generalized family:

Epilepsy, Idiopathic Generalized 7 Epilepsy, Idiopathic Generalized 2
Epilepsy, Idiopathic Generalized 11 Epilepsy, Idiopathic Generalized 9
Epilepsy, Idiopathic Generalized 3 Epilepsy, Idiopathic Generalized 4
Epilepsy, Idiopathic Generalized 13 Epilepsy, Idiopathic Generalized 5
Epilepsy, Idiopathic Generalized 8 Epilepsy, Idiopathic Generalized 10
Epilepsy, Idiopathic Generalized 12 Epilepsy, Idiopathic Generalized 14
Epilepsy, Idiopathic Generalized 15 Epilepsy, Idiopathic Generalized 16

Diseases related to Epilepsy, Idiopathic Generalized 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 10.0
2 epilepsy 10.0
3 seizure disorder 10.0
4 spermatogenic failure, y-linked, 1 9.9 MYC KLF4
5 pancreatic ductal carcinoma 9.9 MYC KLF4
6 familial adenomatous polyposis 9.9 MYC KLF4
7 nut midline carcinoma 9.8 SOX2 MYC
8 feingold syndrome 1 9.8 SOX2 MYC
9 infratentorial cancer 9.8 SOX2 MYC
10 macular degeneration, age-related, 7 9.8 SOX2 KLF4
11 neuropathy, hereditary sensory and autonomic, type iii 9.8 SOX2 KLF4
12 cervical squamous cell carcinoma 9.8 SOX2 MYC
13 noonan syndrome with multiple lentigines 9.7 SOX2 KLF4
14 ocular cancer 9.7 SOX2 MYC
15 central nervous system cancer 9.7 SOX2 MYC
16 cornelia de lange syndrome 9.6 SOX2 MYC
17 long qt syndrome 1 9.5 SOX2 KLF4
18 inflammatory bowel disease 28 9.5 SOX2 MYC KLF4
19 germ cell and embryonal cancer 9.5 SOX2 MYC KLF4
20 pelizaeus-merzbacher disease 9.5 SOX2 MYC KLF4
21 germ cell cancer 9.5 SOX2 MYC KLF4
22 rasopathy 9.5 SOX2 MYC KLF4
23 malignant astrocytoma 9.5 SOX2 MYC
24 medulloblastoma 9.4 SOX2 MYC KLF4
25 leukemia, acute myeloid 9.4 SOX2 MYC KLF4
26 parkinson disease, late-onset 9.4 SOX2 MYC KLF4
27 esophageal cancer 9.3 SOX2 MYC KLF4
28 retinitis pigmentosa 9.2 SOX2 RORB MYC KLF4
29 disease of mental health 9.2 SOX2 RORB MYC KLF4

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 15:



Diseases related to Epilepsy, Idiopathic Generalized 15

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 15

Human phenotypes related to Epilepsy, Idiopathic Generalized 15:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 delayed speech and language development 31 HP:0000750
3 cutaneous photosensitivity 31 HP:0000992
4 aggressive behavior 31 HP:0000718
5 eyelid myoclonus 31 HP:0025097
6 bilateral tonic-clonic seizure 31 HP:0002069
7 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
myoclonus
generalized tonic-clonic seizures
absence seizures
tonic seizures
developmental delay
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features
aggression
behavioral problems, variable (in some patients)

Head And Neck Eyes:
eyelid myoclonus
photosensitivity
abnormal cortical paroxysmal response to intermittent photic stimulation

Clinical features from OMIM®:

618357 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 15:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 MYC RORB SOX2
2 neoplasm MP:0002006 9.33 KLF4 MYC SOX2
3 normal MP:0002873 9.26 KLF4 MYC RORB SOX2
4 reproductive system MP:0005389 8.92 KLF4 MYC RORB SOX2

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

Genetic tests related to Epilepsy, Idiopathic Generalized 15:

# Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized, Susceptibility to, 15 29 RORB

Anatomical Context for Epilepsy, Idiopathic Generalized 15

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

40
Myeloid

Publications for Epilepsy, Idiopathic Generalized 15

Articles related to Epilepsy, Idiopathic Generalized 15:

# Title Authors PMID Year
1
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. 57 6
27352968 2016
2
Generation of an induced pluripotent stem cell line ZZUNEUi019-A from a five-year-old Chinese girl with Susceptibility to idiopathic generalized epilepsy-15. 61
33540281 2021

Variations for Epilepsy, Idiopathic Generalized 15

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 15:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RORB NM_006914.4(RORB):c.357dup (p.Arg120fs) Duplication Pathogenic 807673 rs1587401875 GRCh37: 9:77257449-77257450
GRCh38: 9:74642533-74642534
2 RORB NM_006914.4(RORB):c.926G>A (p.Arg309His) SNV Likely pathogenic 981652 GRCh37: 9:77280437-77280437
GRCh38: 9:74665521-74665521
3 RORB NM_006914.4(RORB):c.196C>T (p.Arg66Ter) SNV risk factor 620651 rs1563959514 GRCh37: 9:77249649-77249649
GRCh38: 9:74634733-74634733
4 RORB NM_006914.4(RORB):c.218T>C (p.Leu73Pro) SNV risk factor 225115 rs869312971 GRCh37: 9:77249671-77249671
GRCh38: 9:74634755-74634755
5 RORB NM_006914.4(RORB):c.1249_1251del (p.Thr417del) Deletion risk factor 225116 rs869312972 GRCh37: 9:77300403-77300405
GRCh38: 9:74685487-74685489
6 RORB NC_000009.11:g.77261322_77313598del Deletion risk factor 620654 GRCh37:
GRCh38:
7 RORB NM_006914.4(RORB):c.8-1G>A SNV Likely pathogenic 690378 rs1587393982 GRCh37: 9:77245197-77245197
GRCh38: 9:74630281-74630281

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 15:

72
# Symbol AA change Variation ID SNP ID
1 RORB p.Leu84Pro VAR_082062 rs869312971

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

Cellular components related to Epilepsy, Idiopathic Generalized 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.92 SOX2 RORB MYC KLF4

Biological processes related to Epilepsy, Idiopathic Generalized 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.58 SOX2 MYC KLF4
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.46 SOX2 RORB MYC KLF4
3 cell cycle arrest GO:0007050 9.43 SOX2 MYC
4 cellular response to retinoic acid GO:0071300 9.37 RORB KLF4
5 somatic stem cell population maintenance GO:0035019 9.32 SOX2 KLF4
6 positive regulation of telomerase activity GO:0051973 9.26 MYC KLF4
7 response to growth factor GO:0070848 8.96 SOX2 MYC
8 positive regulation of transcription, DNA-templated GO:0045893 8.92 SOX2 RORB MYC KLF4

Molecular functions related to Epilepsy, Idiopathic Generalized 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.71 SOX2 RORB MYC KLF4
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 SOX2 RORB MYC KLF4
3 sequence-specific DNA binding GO:0043565 9.54 SOX2 RORB KLF4
4 transcription factor binding GO:0008134 9.5 RORB MYC KLF4
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 SOX2 RORB MYC KLF4
6 DNA-binding transcription factor activity GO:0003700 9.26 SOX2 RORB MYC KLF4
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.92 SOX2 RORB MYC KLF4

Sources for Epilepsy, Idiopathic Generalized 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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