EIG12
MCID: EPL098
MIFTS: 20

Epilepsy, Idiopathic Generalized 12 (EIG12)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 12

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 12:

Name: Epilepsy, Idiopathic Generalized 12 58 76
Epilepsy, Idiopathic Generalized, Susceptibility to, 12 58 30 6
Eig12 58 76
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 12 41
Susceptibility to Idiopathic Generalized Epilepsy 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epilepsy, idiopathic generalized 12:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614847
MeSH 45 D004829

Summaries for Epilepsy, Idiopathic Generalized 12

UniProtKB/Swiss-Prot : 76 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, is also known as epilepsy, idiopathic generalized, susceptibility to, 12. An important gene associated with Epilepsy, Idiopathic Generalized 12 is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and generalized tonic-clonic seizures

Description from OMIM: 614847

Related Diseases for Epilepsy, Idiopathic Generalized 12

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 12

Human phenotypes related to Epilepsy, Idiopathic Generalized 12:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 generalized tonic-clonic seizures 33 HP:0002069

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability (in some patients)
seizures, generalized tonic-clonic
seizures, absence
movement disorders (in some patients)
seizures, juvenile myoclonic

Clinical features from OMIM:

614847

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 30 SLC2A1

Anatomical Context for Epilepsy, Idiopathic Generalized 12

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 12:

42
Brain

Publications for Epilepsy, Idiopathic Generalized 12

Articles related to Epilepsy, Idiopathic Generalized 12:

# Title Authors Year
1
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. ( 25982116 )
2015
2
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. ( 22282645 )
2012
3
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. ( 23280796 )
2012
4
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. ( 19798636 )
2009

Variations for Epilepsy, Idiopathic Generalized 12

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

76
# 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

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 12:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.3(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic/Likely pathogenic rs80359816 GRCh37 Chromosome 1, 43396436: 43396436
2 SLC2A1 NM_006516.3(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic/Likely pathogenic rs80359816 GRCh38 Chromosome 1, 42930765: 42930765
3 SLC2A1 NM_006516.3(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh37 Chromosome 1, 43394913: 43394913
4 SLC2A1 NM_006516.3(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh38 Chromosome 1, 42929242: 42929242
5 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
6 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
7 SLC2A1 NM_006516.3(SLC2A1): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387907313 GRCh37 Chromosome 1, 43395437: 43395437
8 SLC2A1 NM_006516.3(SLC2A1): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387907313 GRCh38 Chromosome 1, 42929766: 42929766
9 SLC2A1 NM_006516.3(SLC2A1): c.668G> C (p.Arg223Pro) single nucleotide variant risk factor rs397514564 GRCh37 Chromosome 1, 43395555: 43395555
10 SLC2A1 NM_006516.3(SLC2A1): c.668G> C (p.Arg223Pro) single nucleotide variant risk factor rs397514564 GRCh38 Chromosome 1, 42929884: 42929884
11 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh37 Chromosome 1, 43394696: 43394697
12 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh38 Chromosome 1, 42929025: 42929026
13 SLC2A1 NM_006516.3(SLC2A1): c.1372C> T (p.Arg458Trp) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs13306758 GRCh37 Chromosome 1, 43392819: 43392819
14 SLC2A1 NM_006516.3(SLC2A1): c.1372C> T (p.Arg458Trp) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs13306758 GRCh38 Chromosome 1, 42927148: 42927148
15 SLC2A1 NM_006516.3(SLC2A1): c.1232A> G (p.Asn411Ser) single nucleotide variant risk factor rs398123069 GRCh37 Chromosome 1, 43393322: 43393322
16 SLC2A1 NM_006516.3(SLC2A1): c.1232A> G (p.Asn411Ser) single nucleotide variant risk factor rs398123069 GRCh38 Chromosome 1, 42927651: 42927651
17 SLC2A1 NM_006516.3(SLC2A1): c.907dup (p.Val303Glyfs) duplication Pathogenic rs80359837 GRCh37 Chromosome 1, 43394946: 43394946
18 SLC2A1 NM_006516.3(SLC2A1): c.907dup (p.Val303Glyfs) duplication Pathogenic rs80359837 GRCh38 Chromosome 1, 42929275: 42929275
19 SLC2A1 NM_006516.3(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
20 SLC2A1 NM_006516.3(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh38 Chromosome 1, 42929009: 42929009
21 SLC2A1 NM_006516.3(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh37 Chromosome 1, 43394661: 43394661
22 SLC2A1 NM_006516.3(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh38 Chromosome 1, 42928990: 42928990
23 SLC2A1 NM_006516.3(SLC2A1): c.1006C> G (p.Leu336Val) single nucleotide variant Uncertain significance rs755946345 GRCh37 Chromosome 1, 43394671: 43394671
24 SLC2A1 NM_006516.3(SLC2A1): c.1006C> G (p.Leu336Val) single nucleotide variant Uncertain significance rs755946345 GRCh38 Chromosome 1, 42929000: 42929000
25 SLC2A1 NM_006516.3(SLC2A1): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs796053248 GRCh37 Chromosome 1, 43395556: 43395556
26 SLC2A1 NM_006516.3(SLC2A1): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs796053248 GRCh38 Chromosome 1, 42929885: 42929885
27 SLC2A1 NM_006516.3(SLC2A1): c.1395C> T (p.Ser465=) single nucleotide variant Conflicting interpretations of pathogenicity rs75852730 GRCh37 Chromosome 1, 43392796: 43392796
28 SLC2A1 NM_006516.3(SLC2A1): c.1395C> T (p.Ser465=) single nucleotide variant Conflicting interpretations of pathogenicity rs75852730 GRCh38 Chromosome 1, 42927125: 42927125
29 SLC2A1 NM_006516.3(SLC2A1): c.188C> T (p.Thr63Met) single nucleotide variant Uncertain significance rs200828053 GRCh37 Chromosome 1, 43396804: 43396804
30 SLC2A1 NM_006516.3(SLC2A1): c.188C> T (p.Thr63Met) single nucleotide variant Uncertain significance rs200828053 GRCh38 Chromosome 1, 42931133: 42931133
31 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh37 Chromosome 1, 43394617: 43394617
32 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh38 Chromosome 1, 42928946: 42928946
33 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh37 Chromosome 1, 43396831: 43396831
34 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh38 Chromosome 1, 42931160: 42931160
35 SLC2A1 NM_006516.3(SLC2A1): c.192C> G (p.Leu64=) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 43396800: 43396800
36 SLC2A1 NM_006516.3(SLC2A1): c.192C> G (p.Leu64=) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 42931129: 42931129
37 SLC2A1 NM_006516.3(SLC2A1): c.75G> A (p.Gln25=) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 43408936: 43408936
38 SLC2A1 NM_006516.3(SLC2A1): c.75G> A (p.Gln25=) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 42943265: 42943265

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

Sources for Epilepsy, Idiopathic Generalized 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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
Content
Loading form....