EIG9
MCID: EPL086
MIFTS: 20

Epilepsy, Idiopathic Generalized 9 (EIG9)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 9

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 9:

Name: Epilepsy, Idiopathic Generalized 9 58 76 30 6
Epilepsy, Idiopathic Generalized, Susceptibility to, 9 58 13
Epilepsy, Juvenile Myoclonic 6 58 6
Eig9 58 76
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 9 41
Susceptibility to Idiopathic Generalized Epilepsy 9 76
Epilepsy, Juvenile Myoclonic, Susceptibility to, 6 58
Susceptibility to Juvenile Myoclonic Epilepsy 6 76
Juvenile Myoclonic Epilepsy 6 76
Ejm6 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, idiopathic generalized 9:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 58 607682

Summaries for Epilepsy, Idiopathic Generalized 9

UniProtKB/Swiss-Prot : 76 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, is also known as epilepsy, idiopathic generalized, susceptibility to, 9. An important gene associated with Epilepsy, Idiopathic Generalized 9 is CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4). Affiliated tissues include brain, and related phenotypes are eeg with polyspike wave complexes and morning myoclonic jerks

OMIM : 58 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)

Related Diseases for Epilepsy, Idiopathic Generalized 9

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 9

Human phenotypes related to Epilepsy, Idiopathic Generalized 9:

33
# Description HPO Frequency HPO Source Accession
1 eeg with polyspike wave complexes 33 HP:0002392
2 morning myoclonic jerks 33 HP:0007000
3 absence seizure 33 HP:0002121
4 generalized tonic-clonic seizures on awakening 33 HP:0007193

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CACNB4

Anatomical Context for Epilepsy, Idiopathic Generalized 9

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 9:

42
Brain

Publications for Epilepsy, Idiopathic Generalized 9

Variations for Epilepsy, Idiopathic Generalized 9

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
2 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
3 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
4 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
5 CACNB4 NM_000726.4(CACNB4): c.1444C> T (p.Arg482Ter) single nucleotide variant risk factor rs1805032 GRCh37 Chromosome 2, 152695752: 152695752
6 CACNB4 NM_000726.4(CACNB4): c.1444C> T (p.Arg482Ter) single nucleotide variant risk factor rs1805032 GRCh38 Chromosome 2, 151839238: 151839238
7 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
8 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
9 CACNB4 NM_000726.4(CACNB4): c.610delC (p.Gln204Lysfs) deletion Pathogenic rs1057518688 GRCh37 Chromosome 2, 152727364: 152727364
10 CACNB4 NM_000726.4(CACNB4): c.610delC (p.Gln204Lysfs) deletion Pathogenic rs1057518688 GRCh38 Chromosome 2, 151870850: 151870850

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

Sources for Epilepsy, Idiopathic Generalized 9

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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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
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