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 57 74 29 6
Epilepsy, Childhood Absence, Susceptibility to, 5 57 13
Eca5 57 74
Epilepsy, Childhood Absence, Type 5 40

Characteristics:

HPO:

32
epilepsy, childhood absence 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612269
MeSH 44 D004832
MedGen 42 C2677087

Summaries for Epilepsy, Childhood Absence 5

UniProtKB/Swiss-Prot : 74 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 Beta3 Subunit). Related phenotype is absence seizure.

More information from OMIM: 612269

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:

32
# Description HPO Frequency HPO Source Accession
1 absence seizure 32 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. 8 71
18514161 2008
2
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. 8
16835263 2006
3
Key role of lipid management in nitrogen and aroma metabolism in an evolved wine yeast strain. 38
26861624 2016
4
Impact of available nitrogen and sugar concentration in musts on alcoholic fermentation and subsequent wine spoilage by Brettanomyces bruxellensis. 38
25475334 2015
5
Combined effects of nutrients and temperature on the production of fermentative aromas by Saccharomyces cerevisiae during wine fermentation. 38
25412578 2015
6
Dynamics and quantitative analysis of the synthesis of fermentative aromas by an evolved wine strain of Saccharomyces cerevisiae. 38
24989462 2015
7
Selection of DNA aptamers against uropathogenic Escherichia coli NSM59 by quantitative PCR controlled Cell-SELEX. 38
25008464 2014
8
Pilot-scale evaluation the enological traits of a novel, aromatic wine yeast strain obtained by adaptive evolution. 38
22986198 2012
9
The identification of SNPs with indeterminate positions using the Equine SNP50 BeadChip. 38
22486508 2012
10
Evolutionary engineered Saccharomyces cerevisiae wine yeast strains with increased in vivo flux through the pentose phosphate pathway. 38
21300171 2011
11
Refinement of a quantitative trait locus on equine chromosome 5 responsible for fetlock osteochondrosis in Hanoverian warmblood horses. 38
19392821 2009
12
Shielding design of an underground experimental area at point 5 of the CERN Super Proton Synchrotron (SPS). 38
16381709 2005
13
Karyotypic relationships of horses and zebras: results of cross-species chromosome painting. 38
14970709 2003
14
FISH analysis comparing genome organization in the domestic horse (Equus caballus) to that of the Mongolian wild horse (E. przewalskii). 38
14970707 2003
15
A primary male autosomal linkage map of the horse genome. 38
9750194 1998

Variations for Epilepsy, Childhood Absence 5

ClinVar genetic disease variations for Epilepsy, Childhood Absence 5:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GABRB3 NM_021912.5(GABRB3): c.695G> A (p.Arg232Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045045 15:26812868-26812868 15:26567721-26567721
2 GABRB3 NM_021912.5(GABRB3): c.766C> G (p.Leu256Val) single nucleotide variant Likely pathogenic rs1555401942 15:26812797-26812797 15:26567650-26567650
3 GABRB3 NM_021912.5(GABRB3): c.695G> C (p.Arg232Pro) single nucleotide variant Likely pathogenic rs797045045 15:26812868-26812868 15:26567721-26567721
4 GABRB3 NM_021912.5(GABRB3): c.895A> C (p.Lys299Gln) single nucleotide variant Likely pathogenic 15:26806264-26806264 15:26561117-26561117
5 GABRB3 NM_021912.5(GABRB3): c.31C> T (p.Pro11Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs25409 15:27018841-27018841 15:26773694-26773694
6 GABRB3 NM_021912.5(GABRB3): c.380A> G (p.Lys127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057519201 15:26866542-26866542 15:26621395-26621395
7 GABRB3 NM_021912.5(GABRB3): c.1293G> A (p.Arg431=) single nucleotide variant Conflicting interpretations of pathogenicity rs75914945 15:26793069-26793069 15:26547922-26547922
8 GABRB3 NM_021912.5(GABRB3): c.183C> G (p.Val61=) single nucleotide variant Conflicting interpretations of pathogenicity rs778097525 15:27017606-27017606 15:26772459-26772459
9 GABRB3 NM_021912.5(GABRB3): c.683-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs759453899 15:26812887-26812887 15:26567740-26567740
10 GABRB3 NM_021912.5(GABRB3): c.239T> C (p.Met80Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1064794797 15:27017550-27017550 15:26772403-26772403
11 GABRB3 NM_021912.5(GABRB3): c.487A> G (p.Met163Val) single nucleotide variant Uncertain significance rs1060502666 15:26828536-26828536 15:26583389-26583389
12 GABRB3 NC_000015.9: g.(?_26812708)_(26874170_?)del deletion Uncertain significance 15:26812708-26874170 15:26567561-26629023
13 GABRB3 NM_021912.5(GABRB3): c.712C> T (p.Arg238Trp) single nucleotide variant Uncertain significance rs144496462 15:26812851-26812851 15:26567704-26567704
14 GABRB3 NM_021912.5(GABRB3): c.506C> T (p.Pro169Leu) single nucleotide variant Uncertain significance rs1555368630 15:26828517-26828517 15:26583370-26583370
15 GABRB3 NM_021912.5(GABRB3): c.1058G> A (p.Arg353His) single nucleotide variant Uncertain significance rs200057173 15:26806101-26806101 15:26560954-26560954
16 GABRB3 NM_021912.5(GABRB3): c.682_682+3dup duplication Uncertain significance rs1254941219 15:26825463-26825466 15:26580316-26580319
17 GABRB3 NM_021912.5(GABRB3): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs1555371848 15:26866504-26866504 15:26621357-26621357
18 GABRB3 NM_021912.5(GABRB3): c.504C> A (p.Tyr168Ter) single nucleotide variant Uncertain significance rs1060502665 15:26828519-26828519 15:26583372-26583372
19 GABRB3 NM_021912.5(GABRB3): c.217G> C (p.Asp73His) single nucleotide variant Uncertain significance rs768859258 15:27017572-27017572 15:26772425-26772425
20 GABRB3 NM_021912.5(GABRB3): c.1078C> T (p.Arg360Trp) single nucleotide variant Uncertain significance rs771568810 15:26806081-26806081 15:26560934-26560934
21 GABRB3 NC_000015.9: g.(?_26792920)_(27020442_?)del deletion Uncertain significance
22 GABRB3 NC_000015.9: g.(?_26792920)_(27020442_?)dup duplication Uncertain significance
23 GABRB3 NM_021912.5(GABRB3): c.175C> T (p.Pro59Ser) single nucleotide variant Uncertain significance rs1555383878 15:27017614-27017614 15:26772467-26772467
24 GABRB3 NM_021912.5(GABRB3): c.44C> T (p.Ser15Phe) single nucleotide variant Uncertain significance rs121913126 15:27018828-27018828 15:26773681-26773681
25 GABRB3 NM_021912.5(GABRB3): c.94G> A (p.Gly32Arg) single nucleotide variant Uncertain significance rs71651682 15:27017906-27017906 15:26772759-26772759
26 GABRB3 NM_021912.5(GABRB3): c.910A> G (p.Lys304Glu) single nucleotide variant Uncertain significance rs1555401426 15:26806249-26806249 15:26561102-26561102
27 GABRB3 NM_021912.5(GABRB3): c.417C> T (p.Arg139=) single nucleotide variant Uncertain significance rs933729675 15:26866505-26866505 15:26621358-26621358
28 GABRB3 NM_021912.5(GABRB3): c.1057C> T (p.Arg353Cys) single nucleotide variant Uncertain significance rs775988401 15:26806102-26806102 15:26560955-26560955
29 GABRB3 NM_021912.5(GABRB3): c.1021A> C (p.Lys341Gln) single nucleotide variant Uncertain significance rs761102474 15:26806138-26806138 15:26560991-26560991
30 GABRB3 NM_021912.5(GABRB3): c.995T> C (p.Phe332Ser) single nucleotide variant Uncertain significance rs1555401411 15:26806164-26806164 15:26561017-26561017
31 GABRB3 NM_021912.5(GABRB3): c.292G> A (p.Ala98Thr) single nucleotide variant Uncertain significance rs756369937 15:26866630-26866630 15:26621483-26621483
32 GABRB3 NM_021912.5(GABRB3): c.650G> A (p.Arg217His) single nucleotide variant Uncertain significance rs121913125 15:26825498-26825498 15:26580351-26580351
33 GABRB3 NM_000814.5(GABRB3): c.-114_*4247del deletion Uncertain significance 15:26788693-27018223 15:26543546-26773076
34 GABRB3 NM_021912.5(GABRB3): c.835+5G> A single nucleotide variant Uncertain significance 15:26812723-26812723 15:26567576-26567576
35 GABRB3 NM_021912.5(GABRB3): c.758C> A (p.Pro253His) single nucleotide variant Uncertain significance 15:26812805-26812805 15:26567658-26567658
36 GABRB3 NM_021912.5(GABRB3): c.1148G> A (p.Gly383Asp) single nucleotide variant Uncertain significance 15:26793214-26793214 15:26548067-26548067
37 GABRB3 NM_021912.5(GABRB3): c.640G> A (p.Val214Met) single nucleotide variant Uncertain significance 15:26825508-26825508 15:26580361-26580361
38 GABRB3 NM_021912.5(GABRB3): c.557C> T (p.Thr186Met) single nucleotide variant Uncertain significance 15:26825591-26825591 15:26580444-26580444
39 GABRB3 NC_000015.9: g.(?_26792920)_(27018162_?)dup duplication Uncertain significance 15:26792920-27018162 15:26547773-26773015
40 GABRB3 NM_021912.5(GABRB3): c.296A> G (p.Tyr99Cys) single nucleotide variant Uncertain significance 15:26866626-26866626 15:26621479-26621479
41 GABRB3 NM_021912.5(GABRB3): c.1039G> C (p.Ala347Pro) single nucleotide variant Uncertain significance 15:26806120-26806120 15:26560973-26560973
42 GABRB3 NM_021912.5(GABRB3): c.701C> T (p.Ser234Leu) single nucleotide variant Uncertain significance 15:26812862-26812862 15:26567715-26567715
43 GABRB3 NM_021912.5(GABRB3): c.1153A> G (p.Ile385Val) single nucleotide variant Uncertain significance 15:26793209-26793209 15:26548062-26548062
44 GABRB3 NM_021912.5(GABRB3): c.1052A> G (p.Asn351Ser) single nucleotide variant Uncertain significance 15:26806107-26806107 15:26560960-26560960
45 GABRB3 NM_021912.5(GABRB3): c.545A> G (p.Tyr182Cys) single nucleotide variant Uncertain significance 15:26825603-26825603 15:26580456-26580456
46 GABRB3 NM_021912.5(GABRB3): c.428T> G (p.Leu143Arg) single nucleotide variant Uncertain significance 15:26866494-26866494 15:26621347-26621347
47 GABRB3 NM_021912.5(GABRB3): c.331C> T (p.Arg111Ter) single nucleotide variant Uncertain significance 15:26866591-26866591 15:26621444-26621444
48 GABRB3 NM_021912.5(GABRB3): c.184T> G (p.Cys62Gly) single nucleotide variant Uncertain significance 15:27017605-27017605 15:26772458-26772458
49 GABRB3 NM_021912.5(GABRB3): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance 15:27018870-27018870 15:26773723-26773723
50 GABRB3 NC_000015.9: g.(?_27017808)_(27020442_?)dup duplication Uncertain significance 15:27017808-27020442 15:26772661-26775295

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

74
# Symbol AA change Variation ID SNP ID
1 GABRB3 p.Gly32Arg VAR_047957 rs71651682

Expression for Epilepsy, Childhood Absence 5

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GO Terms for Epilepsy, Childhood Absence 5

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