ECA5
MCID: EPL136
MIFTS: 21

Epilepsy, Childhood Absence 5 (ECA5)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Childhood Absence 5

MalaCards integrated aliases for Epilepsy, Childhood Absence 5:

Name: Epilepsy, Childhood Absence 5 56 73 29 6
Epilepsy, Childhood Absence, Susceptibility to, 5 56 13
Eca5 56 73
Epilepsy, Childhood Absence, Type 5 39

Characteristics:

HPO:

31
epilepsy, childhood absence 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 612269
OMIM Phenotypic Series 56 PS600131
MeSH 43 D004832
MedGen 41 C2677087

Summaries for Epilepsy, Childhood Absence 5

UniProtKB/Swiss-Prot : 73 Epilepsy, childhood absence 5: 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.

MalaCards based summary : Epilepsy, Childhood Absence 5, is also known as epilepsy, childhood absence, susceptibility to, 5. An important gene associated with Epilepsy, Childhood Absence 5 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3). Related phenotype is generalized non-motor (absence) seizure.

More information from OMIM: 612269 PS600131

Related Diseases for Epilepsy, Childhood Absence 5

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 6
Epilepsy, Childhood Absence 5

Symptoms & Phenotypes for Epilepsy, Childhood Absence 5

Human phenotypes related to Epilepsy, Childhood Absence 5:

31
# Description HPO Frequency HPO Source Accession
1 generalized non-motor (absence) seizure 31 HP:0002121

Clinical features from OMIM:

612269

Drugs & Therapeutics for Epilepsy, Childhood Absence 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Childhood Absence 5

Genetic Tests for Epilepsy, Childhood Absence 5

Genetic tests related to Epilepsy, Childhood Absence 5:

# Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 5 29 GABRB3

Anatomical Context for Epilepsy, Childhood Absence 5

Publications for Epilepsy, Childhood Absence 5

Articles related to Epilepsy, Childhood Absence 5:

(show all 15)
# Title Authors PMID Year
1
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 6 56
18514161 2008
2
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. 56
16835263 2006
3
Key role of lipid management in nitrogen and aroma metabolism in an evolved wine yeast strain. 61
26861624 2016
4
Impact of available nitrogen and sugar concentration in musts on alcoholic fermentation and subsequent wine spoilage by Brettanomyces bruxellensis. 61
25475334 2015
5
Combined effects of nutrients and temperature on the production of fermentative aromas by Saccharomyces cerevisiae during wine fermentation. 61
25412578 2015
6
Dynamics and quantitative analysis of the synthesis of fermentative aromas by an evolved wine strain of Saccharomyces cerevisiae. 61
24989462 2015
7
Selection of DNA aptamers against uropathogenic Escherichia coli NSM59 by quantitative PCR controlled Cell-SELEX. 61
25008464 2014
8
Pilot-scale evaluation the enological traits of a novel, aromatic wine yeast strain obtained by adaptive evolution. 61
22986198 2012
9
The identification of SNPs with indeterminate positions using the Equine SNP50 BeadChip. 61
22486508 2012
10
Evolutionary engineered Saccharomyces cerevisiae wine yeast strains with increased in vivo flux through the pentose phosphate pathway. 61
21300171 2011
11
Refinement of a quantitative trait locus on equine chromosome 5 responsible for fetlock osteochondrosis in Hanoverian warmblood horses. 61
19392821 2009
12
Shielding design of an underground experimental area at point 5 of the CERN Super Proton Synchrotron (SPS). 61
16381709 2005
13
FISH analysis comparing genome organization in the domestic horse (Equus caballus) to that of the Mongolian wild horse (E. przewalskii). 61
14970707 2003
14
Karyotypic relationships of horses and zebras: results of cross-species chromosome painting. 61
14970709 2003
15
A primary male autosomal linkage map of the horse genome. 61
9750194 1998

Variations for Epilepsy, Childhood Absence 5

ClinVar genetic disease variations for Epilepsy, Childhood Absence 5:

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRB3 NC_000015.10:g.(?_26547773)_(26775295_?)deldeletion Pathogenic 469568 15:26547773-26775295
2 GABRB3 NC_000015.10:g.(?_26567561)_(26629023_?)deldeletion Pathogenic 537298 15:26812708-26874170 15:26567561-26629023
3 GABRB3 NC_000015.10:g.(?_25862297)_(26937328_?)deldeletion Pathogenic 833345 15:26107444-27182475
4 GABRB3 NC_000015.10:g.(?_26547773)_(26583434_?)deldeletion Pathogenic 833422 15:26792920-26828581
5 GABRB3 NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)SNV Pathogenic 839250 15:26806254-26806254 15:26561107-26561107
6 GABRB3 NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)SNV Pathogenic/Likely pathogenic 393256 rs797045045 15:26812868-26812868 15:26567721-26567721
7 GABRB3 NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro)SNV Likely pathogenic 209156 rs797045045 15:26812868-26812868 15:26567721-26567721
8 GABRB3 NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu)SNV Likely pathogenic 837360 15:26806257-26806257 15:26561110-26561110
9 GABRB3 NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn)SNV Likely pathogenic 856080 15:26828556-26828556 15:26583409-26583409
10 GABRB3 NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln)SNV Likely pathogenic 582255 rs1567106381 15:26806264-26806264 15:26561117-26561117
11 GABRB3 NM_000814.6(GABRB3):c.766C>G (p.Leu256Val)SNV Likely pathogenic 435274 rs1555401942 15:26812797-26812797 15:26567650-26567650
12 GABRB3 NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)SNV Conflicting interpretations of pathogenicity 447364 rs369631109 15:26793097-26793097 15:26547950-26547950
13 GABRB3 NM_000814.6(GABRB3):c.239T>C (p.Met80Thr)SNV Conflicting interpretations of pathogenicity 420927 rs1064794797 15:27017550-27017550 15:26772403-26772403
14 GABRB3 NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)SNV Conflicting interpretations of pathogenicity 16191 rs25409 15:27018841-27018841 15:26773694-26773694
15 GABRB3 NM_000814.6(GABRB3):c.557C>T (p.Thr186Met)SNV Conflicting interpretations of pathogenicity 571274 rs769801846 15:26825591-26825591 15:26580444-26580444
16 GABRB3 NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg)SNV Conflicting interpretations of pathogenicity 374687 rs1057519201 15:26866542-26866542 15:26621395-26621395
17 GABRB3 NM_000814.6(GABRB3):c.183C>G (p.Val61=)SNV Conflicting interpretations of pathogenicity 386998 rs778097525 15:27017606-27017606 15:26772459-26772459
18 GABRB3 NM_000814.5(GABRB3):c.-114_*4247deldeletion Uncertain significance 238187 15:26788693-27018223 15:26543546-26773076
19 GABRB3 NC_000015.9:g.(?_26792920)_(27018162_?)dupduplication Uncertain significance 583530 15:26792920-27018162 15:26547773-26773015
20 GABRB3 NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu)SNV Uncertain significance 537287 rs1555401426 15:26806249-26806249 15:26561102-26561102
21 GABRB3 NM_000814.6(GABRB3):c.1250G>A (p.Gly417Glu)SNV Uncertain significance 840123 15:26793112-26793112 15:26547965-26547965
22 GABRB3 NM_000814.6(GABRB3):c.1240C>T (p.Arg414Ter)SNV Uncertain significance 848888 15:26793122-26793122 15:26547975-26547975
23 GABRB3 NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)SNV Uncertain significance 16192 rs121913126 15:27018828-27018828 15:26773681-26773681
24 GABRB3 NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg)SNV Uncertain significance 16193 rs71651682 15:27017906-27017906 15:26772759-26772759
25 GABRB3 NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn)SNV Uncertain significance 841349 15:26825559-26825559 15:26580412-26580412
26 GABRB3 NM_000814.6(GABRB3):c.147C>G (p.Asp49Glu)SNV Uncertain significance 834156 15:27017853-27017853 15:26772706-26772706
27 GABRB3 NM_000814.6(GABRB3):c.55G>C (p.Val19Leu)SNV Uncertain significance 834876 15:27018055-27018055 15:26772908-26772908
28 GABRB3 NM_000814.6(GABRB3):c.650G>A (p.Arg217His)SNV Uncertain significance 16190 rs121913125 15:26825498-26825498 15:26580351-26580351
29 GABRB3 NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys)SNV Uncertain significance 575460 rs1566778864 15:26866626-26866626 15:26621479-26621479
30 GABRB3 NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro)SNV Uncertain significance 567268 rs1365439059 15:26806120-26806120 15:26560973-26560973
31 GABRB3 NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu)SNV Uncertain significance 572302 rs1567113254 15:26812862-26812862 15:26567715-26567715
32 GABRB3 NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val)SNV Uncertain significance 652737 15:26793209-26793209 15:26548062-26548062
33 GABRB3 NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser)SNV Uncertain significance 653022 15:26806107-26806107 15:26560960-26560960
34 GABRB3 NM_000814.6(GABRB3):c.545A>G (p.Tyr182Cys)SNV Uncertain significance 663328 15:26825603-26825603 15:26580456-26580456
35 GABRB3 NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg)SNV Uncertain significance 640537 15:26866494-26866494 15:26621347-26621347
36 GABRB3 NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)SNV Uncertain significance 653036 15:26866591-26866591 15:26621444-26621444
37 GABRB3 NM_000814.6(GABRB3):c.184T>G (p.Cys62Gly)SNV Uncertain significance 665193 15:27017605-27017605 15:26772458-26772458
38 GABRB3 NM_021912.5(GABRB3):c.2T>C (p.Met1Thr)SNV Uncertain significance 649834 15:27018870-27018870 15:26773723-26773723
39 GABRB3 NC_000015.9:g.(?_27017808)_(27020442_?)dupduplication Uncertain significance 654110 15:27017808-27020442 15:26772661-26775295
40 GABRB3 NM_000814.6(GABRB3):c.487A>G (p.Met163Val)SNV Uncertain significance 409957 rs1060502666 15:26828536-26828536 15:26583389-26583389
41 GABRB3 NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp)SNV Uncertain significance 469571 rs771568810 15:26806081-26806081 15:26560934-26560934
42 GABRB3 NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter)SNV Uncertain significance 409956 rs1060502665 15:26828519-26828519 15:26583372-26583372
43 GABRB3 NM_000814.6(GABRB3):c.217G>C (p.Asp73His)SNV Uncertain significance 409958 rs768859258 15:27017572-27017572 15:26772425-26772425
44 GABRB3 NM_000814.6(GABRB3):c.1058G>A (p.Arg353His)SNV Uncertain significance 469570 rs200057173 15:26806101-26806101 15:26560954-26560954
45 GABRB3 NM_000814.6(GABRB3):c.682_682+3dupduplication Uncertain significance 469575 rs1254941219 15:26825462-26825463 15:26580315-26580316
46 GABRB3 NM_000814.6(GABRB3):c.418A>G (p.Met140Val)SNV Uncertain significance 469574 rs1555371848 15:26866504-26866504 15:26621357-26621357
47 GABRB3 NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp)SNV Uncertain significance 537292 rs144496462 15:26812851-26812851 15:26567704-26567704
48 GABRB3 NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu)SNV Uncertain significance 537288 rs1555368630 15:26828517-26828517 15:26583370-26583370
49 GABRB3 NC_000015.9:g.(?_26792920)_(27020442_?)dupduplication Uncertain significance 469569 15:26547773-26775295
50 GABRB3 NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser)SNV Uncertain significance 469573 rs1555383878 15:27017614-27017614 15:26772467-26772467

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence 5:

73
# Symbol AA change Variation ID SNP ID
1 GABRB3 p.Gly32Arg VAR_047957 rs71651682

Expression for Epilepsy, Childhood Absence 5

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 5.

Pathways for Epilepsy, Childhood Absence 5

GO Terms for Epilepsy, Childhood Absence 5

Sources for Epilepsy, Childhood Absence 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....