EIG12
MCID: EPL098
MIFTS: 29

Epilepsy, Idiopathic Generalized 12 (EIG12)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 12

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 12:

Name: Epilepsy, Idiopathic Generalized 12 57 72
Epilepsy, Idiopathic Generalized, Susceptibility to, 12 57 29 6
Eig12 57 12 72
Idiopathic Generalized Epilepsy 12 12 15
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 12 39
Susceptibility to Idiopathic Generalized Epilepsy 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
variable severity
onset in first to second decade
seizures may remit with age (in some patients)
favorable response of seizures to a ketogenic diet

Inheritance:
autosomal dominant


HPO:

31
epilepsy, idiopathic generalized 12:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111313
OMIM® 57 614847
OMIM Phenotypic Series 57 PS600669
MeSH 44 D004829

Summaries for Epilepsy, Idiopathic Generalized 12

UniProtKB/Swiss-Prot : 72 Epilepsy, idiopathic generalized 12: 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. In some EIG12 patients seizures may remit with age.

MalaCards based summary : Epilepsy, Idiopathic Generalized 12, also known as epilepsy, idiopathic generalized, susceptibility to, 12, is related to epilepsy, idiopathic generalized and lennox-gastaut syndrome. An important gene associated with Epilepsy, Idiopathic Generalized 12 is SLC2A1 (Solute Carrier Family 2 Member 1). Related phenotypes are intellectual disability and bilateral tonic-clonic seizure

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the SLC2A1 on chromosome 1p34.2.

More information from OMIM: 614847 PS600669

Related Diseases for Epilepsy, Idiopathic Generalized 12

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 12:



Diseases related to Epilepsy, Idiopathic Generalized 12

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 12

Human phenotypes related to Epilepsy, Idiopathic Generalized 12:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability (in some patients)
seizures, generalized tonic-clonic
seizures, absence
seizures, juvenile myoclonic
movement disorders (in some patients)

Clinical features from OMIM®:

614847 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 12

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 12

Genetic Tests for Epilepsy, Idiopathic Generalized 12

Genetic tests related to Epilepsy, Idiopathic Generalized 12:

# Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized, Susceptibility to, 12 29 SLC2A1

Anatomical Context for Epilepsy, Idiopathic Generalized 12

Publications for Epilepsy, Idiopathic Generalized 12

Articles related to Epilepsy, Idiopathic Generalized 12:

# Title Authors PMID Year
1
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 6 57
23280796 2012
2
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. 6 57
22282645 2012
3
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 57 6
19798636 2009
4
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 57
26537434 2015
5
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. 6
25982116 2015
6
Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 6
25108116 2014
7
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 57
20574033 2010
8
Statistics on deliveries of mothers with epilepsy at Yokohama City University Hospital. 61
15610194 2004

Variations for Epilepsy, Idiopathic Generalized 12

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 12:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A1 NM_006516.3(SLC2A1):c.161dup (p.Ser55fs) Duplication Pathogenic 619980 GRCh37: 1:43396830-43396831
GRCh38: 1:42931159-42931160
2 SLC2A1 NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) SNV Pathogenic 198842 rs80359825 GRCh37: 1:43394680-43394680
GRCh38: 1:42929009-42929009
3 SLC2A1 NM_006516.3(SLC2A1):c.19-2A>G SNV Pathogenic 207225 rs796053272 GRCh37: 1:43408994-43408994
GRCh38: 1:42943323-42943323
4 SLC2A1 NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) SNV Pathogenic 207193 rs796053248 GRCh37: 1:43395556-43395556
GRCh38: 1:42929885-42929885
5 SLC2A1 NM_006516.3(SLC2A1):c.694C>T (p.Arg232Cys) SNV risk factor 37301 rs387907313 GRCh37: 1:43395437-43395437
GRCh38: 1:42929766-42929766
6 SLC2A1 NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) SNV risk factor 96708 rs13306758 GRCh37: 1:43392819-43392819
GRCh38: 1:42927148-42927148
7 SLC2A1 NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) SNV Likely pathogenic 96708 rs13306758 GRCh37: 1:43392819-43392819
GRCh38: 1:42927148-42927148
8 SLC2A1 NM_006516.3(SLC2A1):c.668G>C (p.Arg223Pro) SNV risk factor 39702 rs397514564 GRCh37: 1:43395555-43395555
GRCh38: 1:42929884-42929884
9 SLC2A1 NM_006516.3(SLC2A1):c.1232A>G (p.Asn411Ser) SNV risk factor 96709 rs398123069 GRCh37: 1:43393322-43393322
GRCh38: 1:42927651-42927651
10 SLC2A1 NM_006516.3(SLC2A1):c.1006C>G (p.Leu336Val) SNV Uncertain significance 198844 rs755946345 GRCh37: 1:43394671-43394671
GRCh38: 1:42929000-42929000
11 SLC2A1 NM_006516.3(SLC2A1):c.1407G>C (p.Gln469His) SNV Uncertain significance 374095 rs201748668 GRCh37: 1:43392784-43392784
GRCh38: 1:42927113-42927113
12 SLC2A1 NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) SNV Uncertain significance 406880 rs200828053 GRCh37: 1:43396804-43396804
GRCh38: 1:42931133-42931133
13 SLC2A1 NM_006516.3(SLC2A1):c.192C>G (p.Leu64=) SNV Uncertain significance 626018 rs762583668 GRCh37: 1:43396800-43396800
GRCh38: 1:42931129-42931129
14 SLC2A1 NM_006516.3(SLC2A1):c.75G>A (p.Gln25=) SNV Uncertain significance 626019 rs1557651193 GRCh37: 1:43408936-43408936
GRCh38: 1:42943265-42943265
15 SLC2A1 NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) SNV Uncertain significance 212203 rs75852730 GRCh37: 1:43392796-43392796
GRCh38: 1:42927125-42927125
16 SLC2A1 NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) SNV Uncertain significance 198843 rs141619735 GRCh37: 1:43394661-43394661
GRCh38: 1:42928990-42928990
17 SLC2A1 NM_006516.3(SLC2A1):c.19-5C>T SNV Benign 538683 rs376653618 GRCh37: 1:43408997-43408997
GRCh38: 1:42943326-42943326
18 SLC2A1 NM_006516.3(SLC2A1):c.1060G>A (p.Ala354Thr) SNV not provided 441137 rs780529723 GRCh37: 1:43394617-43394617
GRCh38: 1:42928946-42928946

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 12:

72
# Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Arg223Pro VAR_065215 rs397514564
2 SLC2A1 p.Arg232Cys VAR_069078 rs387907313
3 SLC2A1 p.Met77Thr VAR_076228 rs118721026
4 SLC2A1 p.Arg218Ser VAR_076230
5 SLC2A1 p.Glu243Val VAR_076232
6 SLC2A1 p.Asn411Ser VAR_076234 rs398123069
7 SLC2A1 p.Arg458Trp VAR_076236 rs13306758

Expression for Epilepsy, Idiopathic Generalized 12

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 12.

Pathways for Epilepsy, Idiopathic Generalized 12

GO Terms for Epilepsy, Idiopathic Generalized 12

Cellular components related to Epilepsy, Idiopathic Generalized 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 8.62 SLC2A1 MYH1

Biological processes related to Epilepsy, Idiopathic Generalized 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 SCN3A GABRE CLCN6
2 transmembrane transport GO:0055085 9.43 SLC2A1 SCN3A CLCN6
3 chloride transmembrane transport GO:1902476 9.16 GABRE CLCN6
4 chloride transport GO:0006821 8.96 GABRE CLCN6
5 ion transmembrane transport GO:0034220 8.8 SCN3A GABRE CLCN6

Molecular functions related to Epilepsy, Idiopathic Generalized 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.62 SCN3A GABRE

Sources for Epilepsy, Idiopathic Generalized 12

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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