EIG13
MCID: EPL205
MIFTS: 22

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 56 73
Epilepsy, Childhood Absence 4 56 73 29 6
Epilepsy, Juvenile Myoclonic 5 56 29 6
Eig13 56 12 73
Epilepsy, Childhood Absence, Susceptibility to, 4 56 13
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 13 39
Epilepsy, Idiopathic Generalized, Susceptibility to, 13 56
Epilepsy, Juvenile Myoclonic, Susceptibility to, 5 56
Susceptibility to Juvenile Myoclonic Epilepsy 5 73
Idiopathic Generalized Epilepsy 13 12
Juvenile Myoclonic Epilepsy 5 73
Eca4 73
Ejm5 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0111314
OMIM 56 611136
OMIM Phenotypic Series 56 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, 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 Subunit Alpha1). 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 : 56 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:

40
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. 56 6
21714819 2011
2
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 56 6
16718694 2006
3
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 56 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 all 36) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRA1 NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)deletion Pathogenic 568345 rs1561587715 5:161322682-161322701 5:161895676-161895695
2 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)SNV Pathogenic/Likely pathogenic 265162 rs886039373 5:161309645-161309645 5:161882639-161882639
3 GABRA1 NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp)SNV risk factor 16214 rs121434579 5:161322780-161322780 5:161895774-161895774
4 GABRA1 NM_001127644.2(GABRA1):c.975del (p.Ser326fs)deletion risk factor 16215 5:161322790-161322790 5:161895784-161895784
5 GABRA1 NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGCinsertion risk factor 127231 rs587777363 5:161964512-161964513 5:162537506-162537507
6 GABRA1 NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn)SNV risk factor 127232 rs587777364 5:161309659-161309659 5:161882653-161882653
7 GABRA1 NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)SNV Conflicting interpretations of pathogenicity 137412 rs551045474 5:161322769-161322769 5:161895763-161895763
8 GABRA1 NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)SNV Conflicting interpretations of pathogenicity 265161 rs727503940 5:161309644-161309644 5:161882638-161882638
9 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)SNV Conflicting interpretations of pathogenicity 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
10 GABRA1 NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)SNV Conflicting interpretations of pathogenicity 205521 rs796052492 5:161317999-161317999 5:161890993-161890993
11 GABRA1 NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)SNV Uncertain significance 197167 rs143815396 5:161281174-161281174 5:161854168-161854168
12 GABRA1 NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser)SNV Uncertain significance 265163 rs139793542 5:161324282-161324282 5:161897276-161897276
13 GABRA1 NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys)SNV Uncertain significance 468878 rs1554086437 5:161309653-161309653 5:161882647-161882647
14 GABRA1 NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu)SNV Uncertain significance 468872 rs1424659316 5:161324285-161324285 5:161897279-161897279
15 GABRA1 NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly)SNV Uncertain significance 468875 rs1554085822 5:161302574-161302574 5:161875568-161875568
16 GABRA1 NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser)SNV Uncertain significance 579644 rs1561587910 5:161322835-161322835 5:161895829-161895829
17 GABRA1 NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)SNV Uncertain significance 579311 rs75423500 5:161281164-161281164 5:161854158-161854158
18 GABRA1 NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu)SNV Uncertain significance 626110 rs866861998 5:161281169-161281169 5:161854163-161854163
19 GABRA1 NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr)SNV Uncertain significance 661858 5:161309641-161309641 5:161882635-161882635
20 GABRA1 NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala)SNV Uncertain significance 655340 5:161322735-161322735 5:161895729-161895729
21 GABRA1 NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile)SNV Uncertain significance 655593 5:161322747-161322747 5:161895741-161895741
22 GABRA1 NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile)SNV Uncertain significance 644880 5:161322819-161322819 5:161895813-161895813
23 GABRA1 NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala)SNV Uncertain significance 659833 5:161324127-161324127 5:161897121-161897121
24 GABRA1 NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr)SNV Uncertain significance 536748 rs1312439667 5:161324408-161324408 5:161897402-161897402
25 GABRA1 NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys)SNV Uncertain significance 536749 rs769743354 5:161281183-161281183 5:161854177-161854177
26 GABRA1 NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp)SNV Uncertain significance 581609 rs1437350481 5:161302587-161302587 5:161875581-161875581
27 GABRA1 NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr)SNV Uncertain significance 571668 rs1424508480 5:161324165-161324165 5:161897159-161897159
28 GABRA1 NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu)SNV Uncertain significance 565880 rs1561584736 5:161317987-161317987 5:161890981-161890981
29 GABRA1 NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys)SNV Uncertain significance 536747 rs1554087843 5:161324389-161324389 5:161897383-161897383
30 GABRA1 NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=)SNV Likely benign 536752 rs1554087785 5:161324122-161324122 5:161897116-161897116
31 GABRA1 NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=)SNV Likely benign 468879 rs775895535 5:161317956-161317956 5:161890950-161890950
32 GABRA1 NM_001127644.2(GABRA1):c.856+8C>TSNV Likely benign 468880 rs1554087151 5:161318064-161318064 5:161891058-161891058
33 GABRA1 NM_001127644.2(GABRA1):c.857-8C>TSNV Likely benign 468881 rs752572964 5:161322664-161322664 5:161895658-161895658
34 GABRA1 NM_001127644.2(GABRA1):c.576A>G (p.Ala192=)SNV Likely benign 468877 rs1319609279 5:161309580-161309580 5:161882574-161882574
35 GABRA1 NM_001127644.2(GABRA1):c.48C>T (p.Leu16=)SNV Likely benign 468876 rs1554083720 5:161277864-161277864 5:161850858-161850858
36 GABRA1 NM_001127644.2(GABRA1):c.150A>G (p.Leu50=)SNV Likely benign 468873 rs1006797468 5:161281239-161281239 5:161854233-161854233

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

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Pathways for Epilepsy, Idiopathic Generalized 13

GO Terms for Epilepsy, Idiopathic Generalized 13

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