EIG13
MCID: EPL205
MIFTS: 37

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
Idiopathic Generalized Epilepsy 13 12 15
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
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, also known as epilepsy, childhood absence 4, is related to kidney cortex necrosis and high pressure neurological syndrome. An important gene associated with Epilepsy, Idiopathic Generalized 13 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1), and among its related pathways/superpathways are Peptide ligand-binding receptors and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include brain, and related phenotypes are behavior/neurological and reproductive system

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

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 13:



Diseases related to Epilepsy, Idiopathic Generalized 13

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 13

Clinical features from OMIM:

611136

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 13:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 FBLN7 GABRA1 GLRA1 GLRA2 GLRA3 GLRB
2 reproductive system MP:0005389 9.17 ACSBG1 GABRA1 GLRA1 GLRA2 GLRB OXT

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. 6 56
21714819 2011
2
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 6 56
16718694 2006
3
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 6 56
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
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
6
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
7
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 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 NC_000005.9:g.(?_160721068)_(161528343_?)deldeletion Pathogenic 833049 5:160721068-161528343
3 GABRA1 NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)SNV Pathogenic 265161 rs727503940 5:161309644-161309644 5:161882638-161882638
4 GABRA1 NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)SNV Pathogenic/Likely pathogenic 265162 rs886039373 5:161309645-161309645 5:161882639-161882639
5 GABRA1 NM_001127644.2(GABRA1):c.857-2A>GSNV Likely pathogenic 585892 rs1313965409 5:161322670-161322670 5:161895664-161895664
6 GABRA1 NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp)SNV risk factor 16214 rs121434579 5:161322780-161322780 5:161895774-161895774
7 GABRA1 NM_001127644.2(GABRA1):c.975del (p.Ser326fs)deletion risk factor 16215 5:161322790-161322790 5:161895784-161895784
8 GABRA1 NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGCinsertion risk factor 127231 rs587777363 5:161964512-161964513 5:162537506-162537507
9 GABRA1 NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn)SNV risk factor 127232 rs587777364 5:161309659-161309659 5:161882653-161882653
10 GABRA1 NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys)SNV Likely pathogenic 858746 5:161318025-161318025 5:161891019-161891019
11 GABRA1 NM_001127644.2(GABRA1):c.703+8C>ASNV Conflicting interpretations of pathogenicity 697087 5:161309715-161309715 5:161882709-161882709
12 GABRA1 NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)SNV Conflicting interpretations of pathogenicity 93432 rs138259457 5:161324380-161324380 5:161897374-161897374
13 GABRA1 NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)SNV Conflicting interpretations of pathogenicity 127074 rs587777308 5:161300202-161300202 5:161873196-161873196
14 GABRA1 NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)SNV Conflicting interpretations of pathogenicity 129125 rs76224028 5:161281185-161281185 5:161854179-161854179
15 GABRA1 NM_001127644.2(GABRA1):c.-16+8C>ASNV Conflicting interpretations of pathogenicity 137407 rs138671319 5:161275436-161275436 5:161848430-161848430
16 GABRA1 NM_001127644.2(GABRA1):c.255+12C>TSNV Conflicting interpretations of pathogenicity 137408 rs144727170 5:161292806-161292806 5:161865800-161865800
17 GABRA1 NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)SNV Conflicting interpretations of pathogenicity 137409 rs190024862 5:161300308-161300308 5:161873302-161873302
18 GABRA1 NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)SNV Conflicting interpretations of pathogenicity 137410 rs200750234 5:161302590-161302590 5:161875584-161875584
19 GABRA1 NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)SNV Conflicting interpretations of pathogenicity 137412 rs551045474 5:161322769-161322769 5:161895763-161895763
20 GABRA1 NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)SNV Conflicting interpretations of pathogenicity 137414 rs41308303 5:161324212-161324212 5:161897206-161897206
21 GABRA1 NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=)SNV Conflicting interpretations of pathogenicity 137416 rs142385746 5:161324407-161324407 5:161897401-161897401
22 GABRA1 NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)SNV Conflicting interpretations of pathogenicity 198751 rs374616425 5:161309616-161309616 5:161882610-161882610
23 GABRA1 NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)SNV Conflicting interpretations of pathogenicity 205521 rs796052492 5:161317999-161317999 5:161890993-161890993
24 GABRA1 NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser)SNV Conflicting interpretations of pathogenicity 265163 rs139793542 5:161324282-161324282 5:161897276-161897276
25 GABRA1 NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=)SNV Conflicting interpretations of pathogenicity 352600 rs541335259 5:161324263-161324263 5:161897257-161897257
26 GABRA1 NM_001127644.2(GABRA1):c.*213C>TSNV Uncertain significance 352602 rs886060362 5:161324641-161324641 5:161897635-161897635
27 GABRA1 NM_001127644.2(GABRA1):c.*401G>ASNV Uncertain significance 352606 rs541504060 5:161324829-161324829 5:161897823-161897823
28 GABRA1 NM_001127644.2(GABRA1):c.*771C>TSNV Uncertain significance 352609 rs886060366 5:161325199-161325199 5:161898193-161898193
29 GABRA1 NM_001127644.2(GABRA1):c.*1061T>CSNV Uncertain significance 352610 rs374002978 5:161325489-161325489 5:161898483-161898483
30 GABRA1 NM_001127644.2(GABRA1):c.*1319A>GSNV Uncertain significance 352611 rs886060367 5:161325747-161325747 5:161898741-161898741
31 GABRA1 NM_001127644.2(GABRA1):c.*1381T>CSNV Uncertain significance 352612 rs187522588 5:161325809-161325809 5:161898803-161898803
32 GABRA1 NM_001127644.2(GABRA1):c.*1526A>GSNV Uncertain significance 352616 rs540638714 5:161325954-161325954 5:161898948-161898948
33 GABRA1 NM_001127644.2(GABRA1):c.*1971T>CSNV Uncertain significance 352623 rs886060372 5:161326399-161326399 5:161899393-161899393
34 GABRA1 NM_001127644.2(GABRA1):c.*2523A>CSNV Uncertain significance 352626 rs567624810 5:161326951-161326951 5:161899945-161899945
35 GABRA1 NM_000806.5(GABRA1):c.-455G>ASNV Uncertain significance 352579 rs531705924 5:161274210-161274210 5:161847204-161847204
36 GABRA1 NM_000806.5(GABRA1):c.-448G>CSNV Uncertain significance 352583 rs11576000 5:161274217-161274217 5:161847211-161847211
37 GABRA1 NM_000806.5(GABRA1):c.-405T>CSNV Uncertain significance 352587 rs181962869 5:161274260-161274260 5:161847254-161847254
38 GABRA1 NM_000806.5(GABRA1):c.-248+8C>ASNV Uncertain significance 352588 rs886060358 5:161274425-161274425 5:161847419-161847419
39 GABRA1 NM_001127644.2(GABRA1):c.477-14A>GSNV Uncertain significance 352596 rs757378039 5:161302552-161302552 5:161875546-161875546
40 GABRA1 NM_001127644.2(GABRA1):c.*398A>CSNV Uncertain significance 352605 rs374845401 5:161324826-161324826 5:161897820-161897820
41 GABRA1 NM_001127644.2(GABRA1):c.*1659A>GSNV Uncertain significance 352618 rs886060370 5:161326087-161326087 5:161899081-161899081
42 GABRA1 NM_001127644.2(GABRA1):c.*1752G>TSNV Uncertain significance 352619 rs41303356 5:161326180-161326180 5:161899174-161899174
43 GABRA1 NM_001127644.2(GABRA1):c.*2334C>TSNV Uncertain significance 352625 rs886060373 5:161326762-161326762 5:161899756-161899756
44 GABRA1 NM_000806.5(GABRA1):c.-449G>CSNV Uncertain significance 352581 rs190043578 5:161274216-161274216 5:161847210-161847210
45 GABRA1 NM_000806.5(GABRA1):c.-439A>GSNV Uncertain significance 352586 rs886060357 5:161274226-161274226 5:161847220-161847220
46 GABRA1 NM_001127644.2(GABRA1):c.-220T>CSNV Uncertain significance 352590 rs186477194 5:161275224-161275224 5:161848218-161848218
47 GABRA1 NM_000806.5(GABRA1):c.-448G>ASNV Uncertain significance 352582 rs11576000 5:161274217-161274217 5:161847211-161847211
48 GABRA1 NM_001127644.2(GABRA1):c.-10C>GSNV Uncertain significance 352595 rs376699435 5:161277807-161277807 5:161850801-161850801
49 GABRA1 NM_001127644.2(GABRA1):c.857-5T>CSNV Uncertain significance 352599 rs543710675 5:161322667-161322667 5:161895661-161895661
50 GABRA1 NM_001127644.2(GABRA1):c.*302A>GSNV Uncertain significance 352604 rs886060364 5:161324730-161324730 5:161897724-161897724

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 OXT GLRB GLRA3 GLRA2 GLRA1 GABRA1
2
Show member pathways
12.76 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
3
Show member pathways
12.57 GLRB GLRA4 GLRA3 GLRA2 GLRA1
4
Show member pathways
11.93 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
5
Show member pathways
10.72 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1

GO Terms for Epilepsy, Idiopathic Generalized 13

Cellular components related to Epilepsy, Idiopathic Generalized 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.88 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
2 cell junction GO:0030054 9.85 GLRB GLRA3 GLRA2 GLRA1 GABRA1
3 synapse GO:0045202 9.83 GLRB GLRA3 GLRA2 GLRA1 GABRA1
4 neuron projection GO:0043005 9.77 GLRB GLRA3 GLRA2 GLRA1 GABRA1
5 postsynaptic membrane GO:0045211 9.55 GLRB GLRA3 GLRA2 GLRA1 GABRA1
6 GABA-ergic synapse GO:0098982 9.48 GLRB GABRA1
7 integral component of postsynaptic specialization membrane GO:0099060 9.43 GLRA4 GLRA1 GABRA1
8 chloride channel complex GO:0034707 9.35 GLRB GLRA3 GLRA2 GLRA1 GABRA1
9 glycine-gated chloride channel complex GO:0016935 9.32 GLRB GLRA3
10 glycinergic synapse GO:0098690 8.92 GLRB GLRA4 GLRA2 GLRA1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.05 OXT GLRB GLRA3 GLRA2 GLRA1 GABRA1
2 ion transport GO:0006811 9.95 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
3 ion transmembrane transport GO:0034220 9.88 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
4 chemical synaptic transmission GO:0007268 9.85 GLRB GLRA3 GLRA2 GLRA1 GABRA1
5 neuropeptide signaling pathway GO:0007218 9.8 GLRB GLRA3 GLRA2 GLRA1
6 regulation of membrane potential GO:0042391 9.77 GLRB GLRA3 GLRA2 GLRA1 GABRA1
7 excitatory postsynaptic potential GO:0060079 9.73 GLRB GLRA3 GLRA2 GLRA1
8 chloride transport GO:0006821 9.72 GLRB GLRA3 GLRA2 GLRA1 GABRA1
9 regulation of postsynaptic membrane potential GO:0060078 9.69 GLRB GLRA2 GABRA1
10 nervous system process GO:0050877 9.65 GLRB GLRA3 GLRA2 GLRA1 GABRA1
11 response to glucocorticoid GO:0051384 9.61 OXT ACSBG1
12 cellular response to amino acid stimulus GO:0071230 9.6 GLRA2 GLRA1
13 adult walking behavior GO:0007628 9.59 GLRB GLRA1
14 neuromuscular process GO:0050905 9.58 GLRB GLRA1
15 cellular response to zinc ion GO:0071294 9.57 GLRA2 GLRA1
16 acrosome reaction GO:0007340 9.56 GLRB GLRA1
17 startle response GO:0001964 9.55 GLRB GLRA1
18 response to amino acid GO:0043200 9.55 GLRB GLRA4 GLRA3 GLRA2 GLRA1
19 cellular response to ethanol GO:0071361 9.54 GLRA2 GLRA1
20 righting reflex GO:0060013 9.52 GLRB GLRA1
21 chloride transmembrane transport GO:1902476 9.43 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
22 synaptic transmission, glycinergic GO:0060012 8.92 GLRB GLRA3 GLRA2 GLRA1

Molecular functions related to Epilepsy, Idiopathic Generalized 13 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.91 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
2 ion channel activity GO:0005216 9.85 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
3 neurotransmitter receptor activity GO:0030594 9.8 GLRB GLRA3 GLRA2 GLRA1 GABRA1
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.76 GLRB GLRA2 GLRA1 GABRA1
5 chloride channel activity GO:0005254 9.72 GLRB GLRA3 GLRA2 GLRA1 GABRA1
6 transmitter-gated ion channel activity GO:0022824 9.56 GLRA4 GLRA3 GLRA2 GLRA1
7 glycine binding GO:0016594 9.55 GLRB GLRA4 GLRA3 GLRA2 GLRA1
8 drug binding GO:0008144 9.51 GLRB GABRA1
9 glycine-gated chloride ion channel activity GO:0022852 9.49 GLRA3 GLRA2
10 extracellularly glycine-gated ion channel activity GO:0016933 9.48 GLRB GLRA1
11 extracellular ligand-gated ion channel activity GO:0005230 9.43 GLRB GLRA4 GLRA3 GLRA2 GLRA1 GABRA1
12 extracellularly glycine-gated chloride channel activity GO:0016934 9.02 GLRB GLRA4 GLRA3 GLRA2 GLRA1

Sources for Epilepsy, Idiopathic Generalized 13

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11 DGIdb
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