ECA4
MCID: EPL205
MIFTS: 20

Epilepsy, Idiopathic Generalized 13 (ECA4)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 13

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 13:

Name: Epilepsy, Idiopathic Generalized 13 58 76
Epilepsy, Childhood Absence 4 58 76 30 6
Epilepsy, Juvenile Myoclonic 5 58 30 6
Epilepsy, Childhood Absence, Susceptibility to, 4 58 13
Eig13 58 76
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 13 ) 41
Epilepsy, Idiopathic Generalized, Susceptibility to, 13 58
Epilepsy, Juvenile Myoclonic, Susceptibility to, 5 58
Susceptibility to Juvenile Myoclonic Epilepsy 5 76
Juvenile Myoclonic Epilepsy 5 76
Eca4 76
Ejm5 76

Classifications:



External Ids:

OMIM 58 611136

Summaries for Epilepsy, Idiopathic Generalized 13

UniProtKB/Swiss-Prot : 76 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.

OMIM : 58 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 30 GABRA1
2 Epilepsy, Childhood Absence 4 30

Anatomical Context for Epilepsy, Idiopathic Generalized 13

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

42
Brain

Publications for Epilepsy, Idiopathic Generalized 13

Articles related to Epilepsy, Idiopathic Generalized 13:

# Title Authors Year
1
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. ( 21714819 )
2011
2
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. ( 20551311 )
2010
3
Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. ( 18534981 )
2008
4
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. ( 16718694 )
2006
5
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. ( 11992121 )
2002

Variations for Epilepsy, Idiopathic Generalized 13

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

76
# Symbol AA change Variation ID SNP ID
1 GABRA1 p.Ala322Asp VAR_013642 rs121434579
2 GABRA1 p.Asp219Asn VAR_071810 rs587777364

ClinVar genetic disease variations for Epilepsy, Idiopathic Generalized 13:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRA1 GABRA1, 1-BP DEL, 975C deletion risk factor
2 GABRA1 NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp) single nucleotide variant risk factor rs121434579 GRCh37 Chromosome 5, 161322780: 161322780
3 GABRA1 NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp) single nucleotide variant risk factor rs121434579 GRCh38 Chromosome 5, 161895774: 161895774
4 GABRA1 NM_000806.5(GABRA1): c.1323G> A (p.Thr441=) single nucleotide variant Benign rs138259457 GRCh37 Chromosome 5, 161324380: 161324380
5 GABRA1 NM_000806.5(GABRA1): c.1323G> A (p.Thr441=) single nucleotide variant Benign rs138259457 GRCh38 Chromosome 5, 161897374: 161897374
6 GABRA1 NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587777308 GRCh38 Chromosome 5, 161873196: 161873196
7 GABRA1 NM_000806.5(GABRA1): c.335G> A (p.Arg112Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587777308 GRCh37 Chromosome 5, 161300202: 161300202
8 GABRA1 NC_000005.10 insertion risk factor rs587777363 NCBI36 Chromosome 5, 161897090: 161897091
9 GABRA1 NC_000005.10 insertion risk factor rs587777363 GRCh38 Chromosome 5, 162537506: 162537507
10 GABRA1 NC_000005.10 insertion risk factor rs587777363 GRCh37 Chromosome 5, 161964512: 161964513
11 GABRA1 NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn) single nucleotide variant risk factor rs587777364 GRCh38 Chromosome 5, 161882653: 161882653
12 GABRA1 NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn) single nucleotide variant risk factor rs587777364 GRCh37 Chromosome 5, 161309659: 161309659
13 GABRA1 NM_000806.5(GABRA1): c.96A> G (p.Gln32=) single nucleotide variant Benign rs76224028 GRCh37 Chromosome 5, 161281185: 161281185
14 GABRA1 NM_000806.5(GABRA1): c.96A> G (p.Gln32=) single nucleotide variant Benign rs76224028 GRCh38 Chromosome 5, 161854179: 161854179
15 GABRA1 NM_000806.5(GABRA1): c.501G> A (p.Pro167=) single nucleotide variant Conflicting interpretations of pathogenicity rs200750234 GRCh38 Chromosome 5, 161875584: 161875584
16 GABRA1 NM_000806.5(GABRA1): c.501G> A (p.Pro167=) single nucleotide variant Conflicting interpretations of pathogenicity rs200750234 GRCh37 Chromosome 5, 161302590: 161302590
17 GABRA1 NM_000806.5(GABRA1): c.954C> T (p.Ala318=) single nucleotide variant Conflicting interpretations of pathogenicity rs551045474 GRCh38 Chromosome 5, 161895763: 161895763
18 GABRA1 NM_000806.5(GABRA1): c.954C> T (p.Ala318=) single nucleotide variant Conflicting interpretations of pathogenicity rs551045474 GRCh37 Chromosome 5, 161322769: 161322769
19 GABRA1 NM_000806.5(GABRA1): c.1155C> A (p.Gly385=) single nucleotide variant Conflicting interpretations of pathogenicity rs41308303 GRCh38 Chromosome 5, 161897206: 161897206
20 GABRA1 NM_000806.5(GABRA1): c.1155C> A (p.Gly385=) single nucleotide variant Conflicting interpretations of pathogenicity rs41308303 GRCh37 Chromosome 5, 161324212: 161324212
21 GABRA1 NM_000806.5(GABRA1): c.1284G> A (p.Pro428=) single nucleotide variant Benign/Likely benign rs74873701 GRCh38 Chromosome 5, 161897335: 161897335
22 GABRA1 NM_000806.5(GABRA1): c.1284G> A (p.Pro428=) single nucleotide variant Benign/Likely benign rs74873701 GRCh37 Chromosome 5, 161324341: 161324341
23 GABRA1 NM_000806.5(GABRA1): c.1350A> G (p.Lys450=) single nucleotide variant Conflicting interpretations of pathogenicity rs142385746 GRCh38 Chromosome 5, 161897401: 161897401
24 GABRA1 NM_000806.5(GABRA1): c.1350A> G (p.Lys450=) single nucleotide variant Conflicting interpretations of pathogenicity rs142385746 GRCh37 Chromosome 5, 161324407: 161324407
25 GABRA1 NM_000806.5(GABRA1): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs143815396 GRCh37 Chromosome 5, 161281174: 161281174
26 GABRA1 NM_000806.5(GABRA1): c.85C> T (p.Pro29Ser) single nucleotide variant Uncertain significance rs143815396 GRCh38 Chromosome 5, 161854168: 161854168
27 GABRA1 NM_000806.5(GABRA1): c.799C> A (p.Leu267Ile) single nucleotide variant Likely pathogenic rs796052492 GRCh38 Chromosome 5, 161890993: 161890993
28 GABRA1 NM_000806.5(GABRA1): c.799C> A (p.Leu267Ile) single nucleotide variant Likely pathogenic rs796052492 GRCh37 Chromosome 5, 161317999: 161317999
29 GABRA1 NM_000806.5(GABRA1): c.831G> A (p.Glu277=) single nucleotide variant Benign rs764666718 GRCh38 Chromosome 5, 161891025: 161891025
30 GABRA1 NM_000806.5(GABRA1): c.831G> A (p.Glu277=) single nucleotide variant Benign rs764666718 GRCh37 Chromosome 5, 161318031: 161318031
31 GABRA1 NM_000806.5(GABRA1): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic/Likely pathogenic rs886039373 GRCh37 Chromosome 5, 161309645: 161309645
32 GABRA1 NM_000806.5(GABRA1): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic/Likely pathogenic rs886039373 GRCh38 Chromosome 5, 161882639: 161882639
33 GABRA1 NM_000806.5(GABRA1): c.1225C> T (p.Pro409Ser) single nucleotide variant Uncertain significance rs139793542 GRCh37 Chromosome 5, 161324282: 161324282
34 GABRA1 NM_000806.5(GABRA1): c.1225C> T (p.Pro409Ser) single nucleotide variant Uncertain significance rs139793542 GRCh38 Chromosome 5, 161897276: 161897276
35 GABRA1 NM_000806.5(GABRA1): c.1206C> T (p.Pro402=) single nucleotide variant Conflicting interpretations of pathogenicity rs541335259 GRCh38 Chromosome 5, 161897257: 161897257
36 GABRA1 NM_000806.5(GABRA1): c.1206C> T (p.Pro402=) single nucleotide variant Conflicting interpretations of pathogenicity rs541335259 GRCh37 Chromosome 5, 161324263: 161324263
37 GABRA1 NM_000806.5(GABRA1): c.216C> T (p.Ile72=) single nucleotide variant Likely benign rs200716712 GRCh38 Chromosome 5, 161865749: 161865749
38 GABRA1 NM_000806.5(GABRA1): c.216C> T (p.Ile72=) single nucleotide variant Likely benign rs200716712 GRCh37 Chromosome 5, 161292755: 161292755
39 GABRA1 NM_000806.5(GABRA1): c.576A> G (p.Ala192=) single nucleotide variant Likely benign rs1319609279 GRCh37 Chromosome 5, 161309580: 161309580
40 GABRA1 NM_000806.5(GABRA1): c.576A> G (p.Ala192=) single nucleotide variant Likely benign rs1319609279 GRCh38 Chromosome 5, 161882574: 161882574
41 GABRA1 NM_000806.5(GABRA1): c.48C> T (p.Leu16=) single nucleotide variant Likely benign rs1554083720 GRCh38 Chromosome 5, 161850858: 161850858
42 GABRA1 NM_000806.5(GABRA1): c.48C> T (p.Leu16=) single nucleotide variant Likely benign rs1554083720 GRCh37 Chromosome 5, 161277864: 161277864
43 GABRA1 NM_000806.5(GABRA1): c.150A> G (p.Leu50=) single nucleotide variant Likely benign rs1006797468 GRCh37 Chromosome 5, 161281239: 161281239
44 GABRA1 NM_000806.5(GABRA1): c.150A> G (p.Leu50=) single nucleotide variant Likely benign rs1006797468 GRCh38 Chromosome 5, 161854233: 161854233
45 GABRA1 NM_000806.5(GABRA1): c.649C> A (p.Gln217Lys) single nucleotide variant Uncertain significance rs1554086437 GRCh38 Chromosome 5, 161882647: 161882647
46 GABRA1 NM_000806.5(GABRA1): c.649C> A (p.Gln217Lys) single nucleotide variant Uncertain significance rs1554086437 GRCh37 Chromosome 5, 161309653: 161309653
47 GABRA1 NM_000806.5(GABRA1): c.856+8C> T single nucleotide variant Likely benign rs1554087151 GRCh38 Chromosome 5, 161891058: 161891058
48 GABRA1 NM_000806.5(GABRA1): c.856+8C> T single nucleotide variant Likely benign rs1554087151 GRCh37 Chromosome 5, 161318064: 161318064
49 GABRA1 NM_000806.5(GABRA1): c.857-8C> T single nucleotide variant Likely benign rs752572964 GRCh38 Chromosome 5, 161895658: 161895658
50 GABRA1 NM_000806.5(GABRA1): c.857-8C> T single nucleotide variant Likely benign rs752572964 GRCh37 Chromosome 5, 161322664: 161322664

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

Sources for Epilepsy, Idiopathic Generalized 13

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....