EIG13
MCID: EPL205
MIFTS: 23

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 74
Epilepsy, Childhood Absence 4 57 74 29 6
Epilepsy, Juvenile Myoclonic 5 57 29 6
Eig13 57 12 74
Epilepsy, Childhood Absence, Susceptibility to, 4 57 13
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 13 40
Epilepsy, Idiopathic Generalized, Susceptibility to, 13 57
Epilepsy, Juvenile Myoclonic, Susceptibility to, 5 57
Susceptibility to Juvenile Myoclonic Epilepsy 5 74
Idiopathic Generalized Epilepsy 13 12
Juvenile Myoclonic Epilepsy 5 74
Eca4 74
Ejm5 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0111314
OMIM 57 611136

Summaries for Epilepsy, Idiopathic Generalized 13

UniProtKB/Swiss-Prot : 74 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, is also known as epilepsy, childhood absence 4. An important gene associated with Epilepsy, Idiopathic Generalized 13 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit). Affiliated tissues include brain.

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)

Related Diseases for Epilepsy, Idiopathic Generalized 13

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 13

Clinical features from OMIM:

611136

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

MalaCards organs/tissues related to Epilepsy, Idiopathic Generalized 13:

41
Brain

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. 8 71
21714819 2011
2
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 8 71
16718694 2006
3
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 8 71
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. 71
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. 71
18534981 2008
6
An expert system for the diagnosis of epilepsy: results of a clinical trial. 38
11767220 2001

Variations for Epilepsy, Idiopathic Generalized 13

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 13:

6 (show all 47)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GABRA1 NM_000806.5(GABRA1): c.869_888del (p.Val290fs) deletion Pathogenic 5:161322684-161322703 5:161895678-161895697
2 GABRA1 NM_000806.5(GABRA1): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic/Likely pathogenic rs886039373 5:161309645-161309645 5:161882639-161882639
3 GABRA1 NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp) single nucleotide variant risk factor rs121434579 5:161322780-161322780 5:161895774-161895774
4 GABRA1 GABRA1, 1-BP DEL, 975C deletion risk factor
5 GABRA1 NC_000005.10 insertion risk factor rs587777363 5:161964512-161964513 5:162537506-162537507
6 GABRA1 NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn) single nucleotide variant risk factor rs587777364 5:161309659-161309659 5:161882653-161882653
7 GABRA1 NM_000806.5(GABRA1): c.1350A> G (p.Lys450=) single nucleotide variant Conflicting interpretations of pathogenicity rs142385746 5:161324407-161324407 5:161897401-161897401
8 GABRA1 NM_000806.5(GABRA1): c.501G> A (p.Pro167=) single nucleotide variant Conflicting interpretations of pathogenicity rs200750234 5:161302590-161302590 5:161875584-161875584
9 GABRA1 NM_000806.5(GABRA1): c.954C> T (p.Ala318=) single nucleotide variant Conflicting interpretations of pathogenicity rs551045474 5:161322769-161322769 5:161895763-161895763
10 GABRA1 NM_000806.5(GABRA1): c.1155C> A (p.Gly385=) single nucleotide variant Conflicting interpretations of pathogenicity rs41308303 5:161324212-161324212 5:161897206-161897206
11 GABRA1 NM_000806.5(GABRA1): c.799C> A (p.Leu267Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs796052492 5:161317999-161317999 5:161890993-161890993
12 GABRA1 NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587777308 5:161300202-161300202 5:161873196-161873196
13 GABRA1 NM_000806.5(GABRA1): c.640C> T (p.Arg214Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs727503940 5:161309644-161309644 5:161882638-161882638
14 GABRA1 NM_000806.5(GABRA1): c.1206C> T (p.Pro402=) single nucleotide variant Conflicting interpretations of pathogenicity rs541335259 5:161324263-161324263 5:161897257-161897257
15 GABRA1 NM_000806.5(GABRA1): c.498T> G (p.Cys166Trp) single nucleotide variant Uncertain significance 5:161302587-161302587 5:161875581-161875581
16 GABRA1 NM_000806.5(GABRA1): c.1108C> A (p.Pro370Thr) single nucleotide variant Uncertain significance 5:161324165-161324165 5:161897159-161897159
17 GABRA1 NM_000806.5(GABRA1): c.787A> T (p.Met263Leu) single nucleotide variant Uncertain significance 5:161317987-161317987 5:161890981-161890981
18 GABRA1 NM_000806.5(GABRA1): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs143815396 5:161281174-161281174 5:161854168-161854168
19 GABRA1 NM_000806.5(GABRA1): c.1351G> A (p.Ala451Thr) single nucleotide variant Uncertain significance rs1312439667 5:161324408-161324408 5:161897402-161897402
20 GABRA1 NM_000806.5(GABRA1): c.94C> A (p.Gln32Lys) single nucleotide variant Uncertain significance rs769743354 5:161281183-161281183 5:161854177-161854177
21 GABRA1 NM_000806.5(GABRA1): c.1332C> G (p.Asn444Lys) single nucleotide variant Uncertain significance rs1554087843 5:161324389-161324389 5:161897383-161897383
22 GABRA1 NM_000806.5(GABRA1): c.649C> A (p.Gln217Lys) single nucleotide variant Uncertain significance rs1554086437 5:161309653-161309653 5:161882647-161882647
23 GABRA1 NM_000806.5(GABRA1): c.1228A> G (p.Lys410Glu) single nucleotide variant Uncertain significance rs1424659316 5:161324285-161324285 5:161897279-161897279
24 GABRA1 NM_000806.5(GABRA1): c.485T> G (p.Val162Gly) single nucleotide variant Uncertain significance rs1554085822 5:161302574-161302574 5:161875568-161875568
25 GABRA1 NM_000806.5(GABRA1): c.1225C> T (p.Pro409Ser) single nucleotide variant Uncertain significance rs139793542 5:161324282-161324282 5:161897276-161897276
26 GABRA1 NM_000806.5(GABRA1): c.1020A> C (p.Arg340Ser) single nucleotide variant Uncertain significance 5:161322835-161322835 5:161895829-161895829
27 GABRA1 NM_000806.5(GABRA1): c.75C> T (p.Ser25=) single nucleotide variant Uncertain significance 5:161281164-161281164 5:161854158-161854158
28 GABRA1 NM_000806.5(GABRA1): c.80G> A (p.Gly27Glu) single nucleotide variant Uncertain significance 5:161281169-161281169 5:161854163-161854163
29 GABRA1 NM_000806.5(GABRA1): c.637T> A (p.Ser213Thr) single nucleotide variant Uncertain significance 5:161309641-161309641 5:161882635-161882635
30 GABRA1 NM_000806.5(GABRA1): c.920T> C (p.Val307Ala) single nucleotide variant Uncertain significance 5:161322735-161322735 5:161895729-161895729
31 GABRA1 NM_000806.5(GABRA1): c.932C> T (p.Thr311Ile) single nucleotide variant Uncertain significance 5:161322747-161322747 5:161895741-161895741
32 GABRA1 NM_000806.5(GABRA1): c.1004A> T (p.Asn335Ile) single nucleotide variant Uncertain significance 5:161322819-161322819 5:161895813-161895813
33 GABRA1 NM_000806.5(GABRA1): c.1070T> C (p.Val357Ala) single nucleotide variant Uncertain significance 5:161324127-161324127 5:161897121-161897121
34 GABRA1 NM_000806.5(GABRA1): c.756C> T (p.Tyr252=) single nucleotide variant Likely benign rs775895535 5:161317956-161317956 5:161890950-161890950
35 GABRA1 NM_000806.5(GABRA1): c.856+8C> T single nucleotide variant Likely benign rs1554087151 5:161318064-161318064 5:161891058-161891058
36 GABRA1 NM_000806.5(GABRA1): c.857-8C> T single nucleotide variant Likely benign rs752572964 5:161322664-161322664 5:161895658-161895658
37 GABRA1 NM_000806.5(GABRA1): c.216C> T (p.Ile72=) single nucleotide variant Likely benign rs200716712 5:161292755-161292755 5:161865749-161865749
38 GABRA1 NM_000806.5(GABRA1): c.576A> G (p.Ala192=) single nucleotide variant Likely benign rs1319609279 5:161309580-161309580 5:161882574-161882574
39 GABRA1 NM_000806.5(GABRA1): c.48C> T (p.Leu16=) single nucleotide variant Likely benign rs1554083720 5:161277864-161277864 5:161850858-161850858
40 GABRA1 NM_000806.5(GABRA1): c.150A> G (p.Leu50=) single nucleotide variant Likely benign rs1006797468 5:161281239-161281239 5:161854233-161854233
41 GABRA1 NM_000806.5(GABRA1): c.477-5T> C single nucleotide variant Likely benign rs779231183 5:161302561-161302561 5:161875555-161875555
42 GABRA1 NM_000806.5(GABRA1): c.1065G> A (p.Lys355=) single nucleotide variant Likely benign rs1554087785 5:161324122-161324122 5:161897116-161897116
43 GABRA1 NM_000806.5(GABRA1): c.1104C> T (p.Tyr368=) single nucleotide variant Likely benign rs771832995 5:161324161-161324161 5:161897155-161897155
44 GABRA1 NM_000806.5(GABRA1): c.1284G> A (p.Pro428=) single nucleotide variant Benign/Likely benign rs74873701 5:161324341-161324341 5:161897335-161897335
45 GABRA1 NM_000806.5(GABRA1): c.96A> G (p.Gln32=) single nucleotide variant Benign rs76224028 5:161281185-161281185 5:161854179-161854179
46 GABRA1 NM_000806.5(GABRA1): c.831G> A (p.Glu277=) single nucleotide variant Benign rs764666718 5:161318031-161318031 5:161891025-161891025
47 GABRA1 NM_000806.5(GABRA1): c.1323G> A (p.Thr441=) single nucleotide variant Benign rs138259457 5:161324380-161324380 5:161897374-161897374

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

74
# 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

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Pathways for Epilepsy, Idiopathic Generalized 13

GO Terms for Epilepsy, Idiopathic Generalized 13

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