EIG9
MCID: EPL086
MIFTS: 28

Epilepsy, Idiopathic Generalized 9 (EIG9)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 9

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 9:

Name: Epilepsy, Idiopathic Generalized 9 57 72 29 6
Eig9 57 12 72
Epilepsy, Idiopathic Generalized, Susceptibility to, 9 57 13
Idiopathic Generalized Epilepsy 9 12 15
Epilepsy, Juvenile Myoclonic 6 57 6
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 9 39
Susceptibility to Idiopathic Generalized Epilepsy 9 72
Epilepsy, Juvenile Myoclonic, Susceptibility to, 6 57
Susceptibility to Juvenile Myoclonic Epilepsy 6 72
Juvenile Myoclonic Epilepsy 6 72
Ejm6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
onset 8-20 years
accounts for approximately 5% of the epilepsies
precipitated by fatigue or alcohol


HPO:

31
epilepsy, idiopathic generalized 9:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111323
OMIM® 57 607682
OMIM Phenotypic Series 57 PS254770 PS600669

Summaries for Epilepsy, Idiopathic Generalized 9

UniProtKB/Swiss-Prot : 72 Epilepsy, idiopathic generalized 9: 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.
Juvenile myoclonic epilepsy 6: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

MalaCards based summary : Epilepsy, Idiopathic Generalized 9, also known as eig9, is related to nemaline myopathy 2 and mowat-wilson syndrome. An important gene associated with Epilepsy, Idiopathic Generalized 9 is CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4). Related phenotypes are eeg with polyspike wave complexes and morning myoclonic jerks

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the CACNB4 on chromosome 2q23.3.

OMIM® : 57 For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see 254770 for a general phenotypic description and a discussion of genetic heterogeneity of JME. (607682) (Updated 05-Apr-2021)

Related Diseases for Epilepsy, Idiopathic Generalized 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 2 10.1 NXPH2 GTDC1
2 mowat-wilson syndrome 10.1 ZEB2 GTDC1 ARHGAP15
3 hypermethioninemia due to adenosine kinase deficiency 10.0 LRP1B CNTNAP2
4 childhood disintegrative disease 9.9 FMR1 CNTNAP2
5 echolalia 9.9 FMR1 CNTNAP2
6 mutism 9.9 FMR1 CNTNAP2
7 color agnosia 9.8 PRKN CNTNAP2
8 specific developmental disorder 9.8 FMR1 CNTNAP2 AFF2
9 phelan-mcdermid syndrome 9.7 FMR1 CNTNAP2
10 x-linked monogenic disease 9.7 MSTN FMR1 AFF2
11 dentatorubral-pallidoluysian atrophy 9.6 PRKN FMR1 AFF2
12 essential tremor 9.5 PRKN HNMT FMR1
13 benign epilepsy with centrotemporal spikes 9.5 FMR1 CNTNAP2 CACNB4
14 restless legs syndrome 9.5 PRKN HNMT FMR1
15 autosomal dominant cerebellar ataxia 9.5 PRKN FMR1 AFF2
16 movement disease 9.5 PRKN FMR1 CNTNAP2
17 meier-gorlin syndrome 2 7.3 ZEB2 STK39 SPOPL PRKN PMS1 NXPH2

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 9:



Diseases related to Epilepsy, Idiopathic Generalized 9

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 9

Human phenotypes related to Epilepsy, Idiopathic Generalized 9:

31
# Description HPO Frequency HPO Source Accession
1 eeg with polyspike wave complexes 31 HP:0002392
2 morning myoclonic jerks 31 HP:0007000
3 generalized non-motor (absence) seizure 31 HP:0002121
4 bilateral tonic-clonic seizure on awakening 31 HP:0007193

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
morning myoclonic jerks
absence seizures
normal intelligence
photosensitivity in one-third of patients
3-6 hz polyspike eeg
more

Clinical features from OMIM®:

607682 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 9

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 9

Genetic Tests for Epilepsy, Idiopathic Generalized 9

Genetic tests related to Epilepsy, Idiopathic Generalized 9:

# Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized 9 29 CACNB4

Anatomical Context for Epilepsy, Idiopathic Generalized 9

Publications for Epilepsy, Idiopathic Generalized 9

Articles related to Epilepsy, Idiopathic Generalized 9:

# Title Authors PMID Year
1
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 6 57
10762541 2000

Variations for Epilepsy, Idiopathic Generalized 9

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNB4 NM_001330113.2(CACNB4):c.545-239del Deletion Pathogenic 374311 rs1057518688 GRCh37: 2:152727364-152727364
GRCh38: 2:151870850-151870850
2 CACNB4 NM_000726.4(CACNB4):c.1444C>T (p.Arg482Ter) SNV risk factor 7607 rs1805032 GRCh37: 2:152695752-152695752
GRCh38: 2:151839238-151839238
3 CACNB4 NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) SNV risk factor 7608 rs1805031 GRCh37: 2:152737393-152737393
GRCh38: 2:151880879-151880879
4 CACNB4 NM_000726.4(CACNB4):c.91A>C (p.Ser31Arg) SNV Uncertain significance 446974 rs773391545 GRCh37: 2:152954900-152954900
GRCh38: 2:152098386-152098386
5 CACNB4 NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) SNV Uncertain significance 204939 rs200662010 GRCh37: 2:152955482-152955482
GRCh38: 2:152098968-152098968
6 CACNB4 NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) SNV Uncertain significance 193120 rs200092211 GRCh37: 2:152955521-152955521
GRCh38: 2:152099007-152099007
7 CACNB4 NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) SNV Uncertain significance 193120 rs200092211 GRCh37: 2:152955521-152955521
GRCh38: 2:152099007-152099007

Expression for Epilepsy, Idiopathic Generalized 9

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 9.

Pathways for Epilepsy, Idiopathic Generalized 9

GO Terms for Epilepsy, Idiopathic Generalized 9

Biological processes related to Epilepsy, Idiopathic Generalized 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neurotransmitter secretion GO:0046928 8.96 PRKN FMR1
2 positive regulation of proteasomal protein catabolic process GO:1901800 8.62 PRKN FMR1

Molecular functions related to Epilepsy, Idiopathic Generalized 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-quadruplex RNA binding GO:0002151 8.62 FMR1 AFF2

Sources for Epilepsy, Idiopathic Generalized 9

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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