EIG13
MCID: EPL205
MIFTS: 28

Epilepsy, Idiopathic Generalized 13 (EIG13)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 13

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 13:

Name: Epilepsy, Idiopathic Generalized 13 57 73
Epilepsy, Childhood Absence 4 57 73 29 6
Epilepsy, Juvenile Myoclonic 5 57 29 6
Eig13 57 12 73
Epilepsy, Childhood Absence, Susceptibility to, 4 57 13
Idiopathic Generalized Epilepsy 13 12 15
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 13 39
Epilepsy, Idiopathic Generalized, Susceptibility to, 13 57
Epilepsy, Juvenile Myoclonic, Susceptibility to, 5 57
Susceptibility to Juvenile Myoclonic Epilepsy 5 73
Juvenile Myoclonic Epilepsy 5 73
Eca4 73
Ejm5 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0111314
OMIM® 57 611136
OMIM Phenotypic Series 57 PS254770 PS600131 PS600669

Summaries for Epilepsy, Idiopathic Generalized 13

UniProtKB/Swiss-Prot : 73 Epilepsy, childhood absence 4: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Epilepsy, idiopathic generalized 13: 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.
Juvenile myoclonic epilepsy 5: 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 13, also known as epilepsy, childhood absence 4, is related to amelogenesis imperfecta, type ig and amelogenesis imperfecta. An important gene associated with Epilepsy, Idiopathic Generalized 13 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1). Related phenotype is reproductive system.

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in heterozygous mutation in the GABRA1 on chromosome 5q34.

OMIM® : 57 Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see 600669). For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (600131) and JME (254770), respectively. (611136) (Updated 05-Mar-2021)

Related Diseases for Epilepsy, Idiopathic Generalized 13

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 13

Clinical features from OMIM®:

611136 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 8.92 ACSBG1 GABRA1 OXT SERPINA5

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 13

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 13

Genetic Tests for Epilepsy, Idiopathic Generalized 13

Genetic tests related to Epilepsy, Idiopathic Generalized 13:

# Genetic test Affiliating Genes
1 Epilepsy, Juvenile Myoclonic 5 29 GABRA1
2 Epilepsy, Childhood Absence 4 29

Anatomical Context for Epilepsy, Idiopathic Generalized 13

Publications for Epilepsy, Idiopathic Generalized 13

Articles related to Epilepsy, Idiopathic Generalized 13:

# Title Authors PMID Year
1
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 57 6
21714819 2011
2
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 6 57
16718694 2006
3
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 57 6
11992121 2002
4
GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. 6
20551311 2010
5
Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. 6
18534981 2008
6
An expert system for the diagnosis of epilepsy: results of a clinical trial. 61
11767220 2001

Variations for Epilepsy, Idiopathic Generalized 13

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 13:

6 (show top 50) (show all 198)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) SNV Pathogenic 265162 rs886039373 5:161309645-161309645 5:161882639-161882639
2 GABRA1 NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) Deletion Pathogenic 568345 rs1561587715 5:161322682-161322701 5:161895676-161895695
3 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
4 GABRA1 NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) SNV Pathogenic 265161 rs727503940 5:161309644-161309644 5:161882638-161882638
5 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) SNV Pathogenic 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
6 GABRA1 NC_000005.9:g.(?_160721068)_(161528343_?)del Deletion Pathogenic 833049 5:160721068-161528343
7 GABRA1 NM_001127644.2(GABRA1):c.857-2A>G SNV Likely pathogenic 585892 rs1313965409 5:161322670-161322670 5:161895664-161895664
8 GABRA1 NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) SNV Likely pathogenic 853851 5:161322680-161322680 5:161895674-161895674
9 GABRA1 NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) SNV Likely pathogenic 858746 5:161318025-161318025 5:161891019-161891019
10 GABRA1 NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) SNV Likely pathogenic 205521 rs796052492 5:161317999-161317999 5:161890993-161890993
11 GABRA1 NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp) SNV risk factor 16214 rs121434579 5:161322780-161322780 5:161895774-161895774
12 GABRA1 NM_001127644.2(GABRA1):c.975del (p.Ser326fs) Deletion risk factor 16215 rs1581220270 5:161322790-161322790 5:161895784-161895784
13 GABRA1 NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn) SNV risk factor 127232 rs587777364 5:161309659-161309659 5:161882653-161882653
14 GABRA1 NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC Insertion risk factor 127231 rs587777363 5:161964512-161964513 5:162537506-162537507
15 GABRA1 NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) SNV Likely pathogenic 950574 5:161317999-161317999 5:161890993-161890993
16 GABRA1 NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys) SNV Uncertain significance 951092 5:161292729-161292729 5:161865723-161865723
17 GABRA1 NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) SNV Uncertain significance 951254 5:161309615-161309615 5:161882609-161882609
18 GABRA1 NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile) SNV Uncertain significance 952243 5:161317970-161317970 5:161890964-161890964
19 GABRA1 NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val) SNV Uncertain significance 953684 5:161324217-161324217 5:161897211-161897211
20 GABRA1 NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly) SNV Uncertain significance 956330 5:161309606-161309606 5:161882600-161882600
21 GABRA1 NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu) SNV Uncertain significance 958694 5:161309642-161309642 5:161882636-161882636
22 GABRA1 NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg) SNV Uncertain significance 962144 5:161309638-161309638 5:161882632-161882632
23 GABRA1 NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile) SNV Uncertain significance 962701 5:161322678-161322678 5:161895672-161895672
24 GABRA1 NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup) Duplication Uncertain significance 963369 5:161324408-161324409 5:161897402-161897403
25 GABRA1 NM_001127644.2(GABRA1):c.74+3_74+4delinsAT Indel Uncertain significance 969559 5:161277893-161277894 5:161850887-161850888
26 GABRA1 NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis) Indel Uncertain significance 970934 5:161324378-161324381 5:161897372-161897375
27 GABRA1 NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) SNV Uncertain significance 497531 rs376031361 5:161324286-161324286 5:161897280-161897280
28 GABRA1 NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) SNV Uncertain significance 373415 rs1057518405 5:161324354-161324354 5:161897348-161897348
29 GABRA1 NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) SNV Uncertain significance 137414 rs41308303 5:161324212-161324212 5:161897206-161897206
30 GABRA1 NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) SNV Uncertain significance 93432 rs138259457 5:161324380-161324380 5:161897374-161897374
31 GABRA1 NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) SNV Uncertain significance 129125 rs76224028 5:161281185-161281185 5:161854179-161854179
32 GABRA1 NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) SNV Uncertain significance 137410 rs200750234 5:161302590-161302590 5:161875584-161875584
33 GABRA1 NM_001127644.2(GABRA1):c.703+8C>A SNV Uncertain significance 697087 rs376693195 5:161309715-161309715 5:161882709-161882709
34 GABRA1 NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys) SNV Uncertain significance 934096 5:161322777-161322777 5:161895771-161895771
35 GABRA1 NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser) SNV Uncertain significance 938090 5:161318024-161318024 5:161891018-161891018
36 GABRA1 NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) SNV Uncertain significance 938214 5:161300163-161300163 5:161873157-161873157
37 GABRA1 NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) SNV Uncertain significance 938690 5:161322729-161322729 5:161895723-161895723
38 GABRA1 NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr) SNV Uncertain significance 590081 rs775344663 5:161324162-161324162 5:161897156-161897156
39 GABRA1 NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) SNV Uncertain significance 424394 rs775157869 5:161324264-161324264 5:161897258-161897258
40 GABRA1 NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly) SNV Uncertain significance 943742 5:161292765-161292765 5:161865759-161865759
41 GABRA1 NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu) SNV Uncertain significance 944837 5:161324249-161324249 5:161897243-161897243
42 GABRA1 NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) SNV Uncertain significance 205522 rs796052493 5:161322674-161322674 5:161895668-161895668
43 GABRA1 NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr) SNV Uncertain significance 946857 5:161324301-161324301 5:161897295-161897295
44 GABRA1 NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) SNV Uncertain significance 947414 5:161300201-161300201 5:161873195-161873195
45 GABRA1 NM_001127644.2(GABRA1):c.255+12C>T SNV Uncertain significance 137408 rs144727170 5:161292806-161292806 5:161865800-161865800
46 GABRA1 NM_001127644.2(GABRA1):c.*401G>A SNV Uncertain significance 352606 rs541504060 5:161324829-161324829 5:161897823-161897823
47 GABRA1 NM_001127644.2(GABRA1):c.*1512G>A SNV Uncertain significance 352615 rs886060368 5:161325940-161325940 5:161898934-161898934
48 GABRA1 NM_001127644.2(GABRA1):c.*398A>C SNV Uncertain significance 352605 rs374845401 5:161324826-161324826 5:161897820-161897820
49 GABRA1 NM_001127644.2(GABRA1):c.-10C>G SNV Uncertain significance 352595 rs376699435 5:161277807-161277807 5:161850801-161850801
50 GABRA1 NM_001127644.2(GABRA1):c.856+11A>G SNV Uncertain significance 352598 rs564871157 5:161318067-161318067 5:161891061-161891061

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized 13:

73
# Symbol AA change Variation ID SNP ID
1 GABRA1 p.Ala322Asp VAR_013642 rs121434579
2 GABRA1 p.Asp219Asn VAR_071810 rs587777364

Expression for Epilepsy, Idiopathic Generalized 13

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 13.

Pathways for Epilepsy, Idiopathic Generalized 13

GO Terms for Epilepsy, Idiopathic Generalized 13

Biological processes related to Epilepsy, Idiopathic Generalized 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 8.62 OXT ACSBG1

Sources for Epilepsy, Idiopathic Generalized 13

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