MCID: EPL098
MIFTS: 18

Epilepsy, Idiopathic Generalized 12

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 57 75
Epilepsy, Idiopathic Generalized, Susceptibility to, 12 57 29 6
Eig12 57 75
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 12 40
Susceptibility to Idiopathic Generalized Epilepsy 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, idiopathic generalized 12:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 57 614847
MeSH 44 D004829

Summaries for Epilepsy, Idiopathic Generalized 12

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

614847

Human phenotypes related to Epilepsy, Idiopathic Generalized 12:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 generalized tonic-clonic seizures 32 HP:0002069

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

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

41
Brain

Publications for Epilepsy, Idiopathic Generalized 12

Variations for Epilepsy, Idiopathic Generalized 12

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

75
# 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
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 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.2(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs80359816 GRCh37 Chromosome 1, 43396436: 43396436
2 SLC2A1 NM_006516.2(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs80359816 GRCh38 Chromosome 1, 42930765: 42930765
3 SLC2A1 NM_006516.2(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh37 Chromosome 1, 43394913: 43394913
4 SLC2A1 NM_006516.2(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh38 Chromosome 1, 42929242: 42929242
5 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
6 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
7 SLC2A1 NM_006516.2(SLC2A1): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387907313 GRCh37 Chromosome 1, 43395437: 43395437
8 SLC2A1 NM_006516.2(SLC2A1): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387907313 GRCh38 Chromosome 1, 42929766: 42929766
9 SLC2A1 NM_006516.2(SLC2A1): c.668G> C (p.Arg223Pro) single nucleotide variant risk factor rs397514564 GRCh37 Chromosome 1, 43395555: 43395555
10 SLC2A1 NM_006516.2(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_006516.2(SLC2A1): c.1372C> T (p.Arg458Trp) single nucleotide variant Likely pathogenic rs13306758 GRCh37 Chromosome 1, 43392819: 43392819
14 SLC2A1 NM_006516.2(SLC2A1): c.1372C> T (p.Arg458Trp) single nucleotide variant Likely pathogenic rs13306758 GRCh38 Chromosome 1, 42927148: 42927148
15 SLC2A1 NM_006516.2(SLC2A1): c.1232A> G (p.Asn411Ser) single nucleotide variant risk factor rs398123069 GRCh37 Chromosome 1, 43393322: 43393322
16 SLC2A1 NM_006516.2(SLC2A1): c.1232A> G (p.Asn411Ser) single nucleotide variant risk factor rs398123069 GRCh38 Chromosome 1, 42927651: 42927651
17 SLC2A1 NM_006516.2(SLC2A1): c.907dupG (p.Val303Glyfs) duplication Pathogenic rs796065334 GRCh37 Chromosome 1, 43394946: 43394946
18 SLC2A1 NM_006516.2(SLC2A1): c.907dupG (p.Val303Glyfs) duplication Pathogenic rs796065334 GRCh38 Chromosome 1, 42929275: 42929275
19 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
20 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh38 Chromosome 1, 42929009: 42929009
21 SLC2A1 NM_006516.2(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh37 Chromosome 1, 43394617: 43394617
22 SLC2A1 NM_006516.2(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh38 Chromosome 1, 42928946: 42928946

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

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