EIG10
MCID: EPL209
MIFTS: 32

Epilepsy, Idiopathic Generalized 10 (EIG10)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 10

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 10:

Name: Epilepsy, Idiopathic Generalized 10 57 73 29 6
Eig10 57 12 73
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5, Susceptibility to 57 13
Generalized Epilepsy with Febrile Seizures Plus Type 5 29 6
Epilepsy, Juvenile Myoclonic, Susceptibility to 57 29
Epilepsy, Juvenile Myoclonic 7 29 6
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 10 39
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 57
Epilepsy, Idiopathic Generalized, Susceptibility to, 10 57
Generalized Epilepsy with Febrile Seizures Plus, Type 5 71
Susceptibility to Idiopathic Generalized Epilepsy 10 73
Generalized Epilepsy with Febrile Seizures Plus 5 73
Susceptibility to Juvenile Myoclonic Epilepsy 7 73
Epilepsy, Idiopathic Generalized, 10 57
Idiopathic Generalized Epilepsy 10 12
Juvenile Myoclonic Epilepsy 7 73
Myoclonic Epilepsy, Juvenile 71
Epilepsy, Juvenile Myoclonic 57
Gefs+ Type 5 73
Gefsp5 73
Gefs+5 73
Ejm7 73

Characteristics:

OMIM®:

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

Miscellaneous:
highly variable phenotype
onset of febrile seizures typically between 6 months and 6 years of age
simple febrile seizures usually remit by age 6 years
some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)
some patients have juvenile-onset myoclonic epilepsy


HPO:

31
epilepsy, idiopathic generalized 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111292
OMIM® 57 613060
OMIM Phenotypic Series 57 PS254770 PS600669 PS604233
UMLS 71 C0270853 C3501643

Summaries for Epilepsy, Idiopathic Generalized 10

UniProtKB/Swiss-Prot : 73 Epilepsy, idiopathic generalized 10: 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.
Generalized epilepsy with febrile seizures plus 5: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Juvenile myoclonic epilepsy 7: 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 10, also known as eig10, is related to epilepsy, idiopathic generalized 13 and epilepsy, juvenile myoclonic 10, and has symptoms including myoclonus and absence seizures. An important gene associated with Epilepsy, Idiopathic Generalized 10 is GABRD (Gamma-Aminobutyric Acid Type A Receptor Subunit Delta). Affiliated tissues include eye, and related phenotypes are focal-onset seizure and bilateral tonic-clonic seizure

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in variation in the GABRD on chromosome 1p36.33.

OMIM® : 57 Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see 600669. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see 254770. (613060) (Updated 05-Mar-2021)

Related Diseases for Epilepsy, Idiopathic Generalized 10

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 10:



Diseases related to Epilepsy, Idiopathic Generalized 10

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 10

Human phenotypes related to Epilepsy, Idiopathic Generalized 10:

31
# Description HPO Frequency HPO Source Accession
1 focal-onset seizure 31 HP:0007359
2 bilateral tonic-clonic seizure 31 HP:0002069
3 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
4 generalized myoclonic seizure 31 HP:0002123
5 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
febrile seizures
myoclonic seizures
absence seizures
seizures, generalized, associated with fever
more

Clinical features from OMIM®:

613060 (Updated 05-Mar-2021)

UMLS symptoms related to Epilepsy, Idiopathic Generalized 10:


myoclonus, absence seizures

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Aged 15-50: A Randomized Controlled Trial Unknown status NCT01450423 Phase 2
2 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371

Search NIH Clinical Center for Epilepsy, Idiopathic Generalized 10

Genetic Tests for Epilepsy, Idiopathic Generalized 10

Genetic tests related to Epilepsy, Idiopathic Generalized 10:

# Genetic test Affiliating Genes
1 Epilepsy, Juvenile Myoclonic 7 29
2 Epilepsy, Idiopathic Generalized 10 29 GABRD
3 Generalized Epilepsy with Febrile Seizures Plus Type 5 29
4 Epilepsy, Juvenile Myoclonic, Susceptibility to 29

Anatomical Context for Epilepsy, Idiopathic Generalized 10

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 10:

40
Eye

Publications for Epilepsy, Idiopathic Generalized 10

Articles related to Epilepsy, Idiopathic Generalized 10:

(show all 18)
# Title Authors PMID Year
1
Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. 57 6
16023832 2005
2
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. 57 6
15115768 2004
3
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 57
9894880 1999
4
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 57
2502382 1989
5
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. 61
33096746 2020
6
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 61
29924869 2018
7
Patterns of cortical hyperexcitability in adolescent/adult-onset generalized epilepsies. 61
23551088 2013
8
[Complex therapy of idiopathic forms of epilepsy with small doses of valproates and levetiracetam]. 61
22983238 2012
9
Relationship among eye condition sensitivities, photosensitivity and epileptic syndromes. 61
19024089 2008
10
[Myoclonic epilepsies in infancy]. 61
10904965 2000
11
Neuropsychological EEG activation in patients with epilepsy. 61
10648439 2000
12
Modern management of epilepsy: Adolescents. 61
9068882 1996
13
Lack of linkage between idiopathic generalized epilepsies and the gene encoding the neural cell adhesion molecule. 61
8884172 1996
14
Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5. 61
8739126 1996
15
Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20. 61
8678111 1996
16
Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies. 61
7675232 1995
17
Idiopathic generalized epilepsy of adolescence: are the syndromes clinically distinct? 61
7644043 1995
18
[Generalized idiopathic epilepsy in older children and adolescents]. 61
7842110 1994

Variations for Epilepsy, Idiopathic Generalized 10

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRD NM_000815.5(GABRD):c.530A>C (p.Glu177Ala) SNV risk factor 16212 rs121434580 1:1959075-1959075 1:2027636-2027636
2 GABRD NM_000815.5(GABRD):c.659G>A (p.Arg220His) SNV risk factor 16213 rs41307846 1:1959699-1959699 1:2028260-2028260
3 GABRD NM_000815.5(GABRD):c.659G>A (p.Arg220His) SNV risk factor 16213 rs41307846 1:1959699-1959699 1:2028260-2028260
4 GABRD NM_000815.5(GABRD):c.659G>A (p.Arg220His) SNV risk factor 16213 rs41307846 1:1959699-1959699 1:2028260-2028260
5 GABRD NM_000815.5(GABRD):c.470+1G>C SNV Uncertain significance 592138 rs1557445669 1:1957178-1957178 1:2025739-2025739
6 GABRD NM_000815.5(GABRD):c.713G>C (p.Ser238Thr) SNV Uncertain significance 981525 1:1960571-1960571 1:2029132-2029132
7 GABRD NM_000815.5(GABRD):c.1253G>C (p.Arg418Pro) SNV Uncertain significance 982605 1:1961615-1961615 1:2030176-2030176
8 GABRD NM_000815.5(GABRD):c.337A>G (p.Ser113Gly) SNV Uncertain significance 931155 1:1957044-1957044 1:2025605-2025605
9 GABRD NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser) SNV Uncertain significance 447365 rs759836961 1:1961467-1961467 1:2030028-2030028
10 GABRD NM_000815.5(GABRD):c.1107C>A (p.Gly369=) SNV Likely benign 460005 rs148300882 1:1961469-1961469 1:2030030-2030030

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 10:

73
# Symbol AA change Variation ID SNP ID
1 GABRD p.Glu177Ala VAR_043151 rs121434580

Expression for Epilepsy, Idiopathic Generalized 10

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 10.

Pathways for Epilepsy, Idiopathic Generalized 10

GO Terms for Epilepsy, Idiopathic Generalized 10

Sources for Epilepsy, Idiopathic Generalized 10

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10 dbSNP
11 DGIdb
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20 GARD
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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