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Aliases for GABRA1 Gene

Aliases for GABRA1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1 2 3
  • GABA(A) Receptor Subunit Alpha-1 3 4
  • GABA(A) Receptor, Alpha 1 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 3
  • EIEE19 3
  • ECA4 3
  • EJM5 3
  • EJM 3

External Ids for GABRA1 Gene

Previous GeneCards Identifiers for GABRA1 Gene

  • GC05P161391
  • GC05P161782
  • GC05P161209
  • GC05P161255
  • GC05P161206
  • GC05P156366

Summaries for GABRA1 Gene

Entrez Gene Summary for GABRA1 Gene

  • This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRA1 Gene

GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit) is a Protein Coding gene. Diseases associated with GABRA1 include Epileptic Encephalopathy, Early Infantile, 19 and Epilepsy, Juvenile Myoclonic 5. Among its related pathways are Peptide ligand-binding receptors and Circadian entrainment. GO annotations related to this gene include drug binding and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRA2.

UniProtKB/Swiss-Prot for GABRA1 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Tocris Summary for GABRA1 Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA1 Gene

Genomics for GABRA1 Gene

Regulatory Elements for GABRA1 Gene

Enhancers for GABRA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GABRA1 on UCSC Golden Path with GeneCards custom track

Promoters for GABRA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GABRA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GABRA1 gene promoter:

Genomic Location for GABRA1 Gene

Chromosome:
5
Start:
161,847,063 bp from pter
End:
161,899,981 bp from pter
Size:
52,919 bases
Orientation:
Plus strand

Genomic View for GABRA1 Gene

Genes around GABRA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA1 Gene

Proteins for GABRA1 Gene

  • Protein details for GABRA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14867-GBRA1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-1
    Protein Accession:
    P14867
    Secondary Accessions:
    • D3DQK6
    • Q8N629

    Protein attributes for GABRA1 Gene

    Size:
    456 amino acids
    Molecular mass:
    51802 Da
    Quaternary structure:
    • Interacts with TRAK1. Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Binds UBQLN1 (By similarity).

neXtProt entry for GABRA1 Gene

Post-translational modifications for GABRA1 Gene

  • Glycosylation at Asn 38 and Asn 138
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRA1 Gene

Domains & Families for GABRA1 Gene

Gene Families for GABRA1 Gene

Suggested Antigen Peptide Sequences for GABRA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14867

UniProtKB/Swiss-Prot:

GBRA1_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.
genes like me logo Genes that share domains with GABRA1: view

Function for GABRA1 Gene

Molecular function for GABRA1 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 1,subunit,component of a pentameric receptor mediating inhibitory neurotransmission
UniProtKB/Swiss-Prot Function:
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Gene Ontology (GO) - Molecular Function for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IEA --
GO:0008144 drug binding ISS --
genes like me logo Genes that share ontologies with GABRA1: view
genes like me logo Genes that share phenotypes with GABRA1: view

Human Phenotype Ontology for GABRA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRA1 Gene

MGI Knock Outs for GABRA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GABRA1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GABRA1 (GABA-A R alpha 1)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRA1 Gene

Localization for GABRA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRA1 Gene COMPARTMENTS Subcellular localization image for GABRA1 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with GABRA1: view

Pathways & Interactions for GABRA1 Gene

genes like me logo Genes that share pathways with GABRA1: view

Pathways by source for GABRA1 Gene

Gene Ontology (GO) - Biological Process for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2465923
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0051932 synaptic transmission, GABAergic ISS --
GO:0071420 cellular response to histamine IEA --
genes like me logo Genes that share ontologies with GABRA1: view

No data available for SIGNOR curated interactions for GABRA1 Gene

Drugs & Compounds for GABRA1 Gene

(204) Drugs for GABRA1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flumazenil Approved Pharma Antagonist, Allosteric regulator, antagonist, Target, Target, positive allosteric modulator Benzodiazepine antagonist 25
Etomidate Approved Pharma antagonist, Target, Target, agonist, positive allosteric modulator General anesthetic with GABA modulatory and GABA-mimetic actions 62
Lorazepam Approved Pharma agonist, Target, positive allosteric modulator 117
Zaleplon Approved, Illicit, Investigational Pharma Full agonist, Allosteric regulator, agonist, Target, potentiator 16
Zolpidem Approved Pharma Full agonist, Allosteric regulator, binder, Target, potentiator 98

(11) Additional Compounds for GABRA1 Gene - From: IUPHAR, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5alpha-pregnan-3alpha-ol-20-one
Potentiation, Allosteric regulator
alpha3IA
Inverse agonist, Allosteric regulator
alpha5IA
Inverse agonist, Allosteric regulator
Ro154513
Inverse agonist, Allosteric regulator
Ro194603
Inverse agonist, Allosteric regulator

(5) Tocris Compounds for GABRA1 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist 40709-69-1
(-)-Bicuculline methochloride Water-soluble GABAA antagonist 53552-05-9
Muscimol Potent GABAA agonist 2763-96-4
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist 104104-50-9
TP 003 Functionally selective GABAA receptor (alpha3 subtype) partial agonist 628690-75-5

(100) ApexBio Compounds for GABRA1 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide 40709-69-1
(-)-Bicuculline methobromide 73604-30-5
(-)-Bicuculline methochloride 53552-05-9
(+)-Bicuculline GABAA receptor antagonist,competitve and classical 485-49-4
(±)-Nipecotic acid 60252-41-7
(R)-baclofen 69308-37-8
(S)-SNAP 5114 GABA uptake inhibitor 157604-55-2
17-PA 694438-95-4
2-Hydroxysaclofen 117354-64-0
3-Methyl-GABA 71424-95-8
AA 29504 GABAA receptor modulator 945828-50-2
Allopregnanolone GABA-A receptor activator, selective 516-54-1
Alphaxalone 23930-19-0
AWD 131-138 GABAA receptor agonist 188116-07-6
Baicalin 21967-41-9
Bemegride 64-65-3
Bretazenil 84379-13-5
CGP 46381 123691-14-5
CGP 52432 139667-74-6
CGP 54626 hydrochloride 149184-21-4
CGP 7930 57717-80-3
CGS 20625 111205-55-1
Chlormethiazole hydrochloride 6001-74-7
CI 966 hydrochloride 110283-66-4
CL 218872 66548-69-4
Dihydroergotoxine mesylate 8067-24-1
DMCM hydrochloride 1215833-62-7
DPNI-caged-GABA activates GABAA receptor 927866-58-8
DS2 374084-31-8
Etifoxine GABAA receptor potentiator 21715-46-8
Etifoxine hydrochloride GABAA receptor potentiator 56776-32-0
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Etomidate hydrochloride 53188-20-8
FG 7142 78538-74-6
FGIN-1-27 142720-24-9
FGIN-1-43 145040-29-5
Flumazenil Benzodiazepine antagonist 78755-81-4
Flunitrazepam 1622-62-4
Furosemide GABAA receptors antagonist 54-31-9
Gabapentin GABA enhancer 60142-96-3
Ganaxolone 38398-32-2
GBLD 345 benzodiazepine receptor agonist, potent 122479-08-7
Ginkgolide A 15291-75-5
GS 39783 39069-52-8
Guvacine hydrochloride 6027-91-4
Hispidulin 1447-88-7
Indiplon 325715-02-4
Isoguvacine hydrochloride 68547-97-7
L-655,708 130477-52-0
L-838,417 286456-42-6
Lorazepam 846-49-1
Loreclezole hydrochloride 117857-45-1
MK 0343 233275-76-8
MRK 016 783331-24-8
Muscimol GABAA receptor agonist, potent 2763-96-4
N-ArachidonylGABA 128201-89-8
NCS-382 520505-01-5
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
NNC 05-2090 hydrochloride 184845-18-9
NNC 711 145645-62-1
Ocinaplon 96604-21-6
Org 20599 156685-94-8
Pentobarbital sodium salt 57-33-0
Pentylenetetrazole 54-95-5
Phaclofen 114012-12-3
Phenobarbital sodium salt 57-30-7
PHP 501 trifluoroacetate 1236105-75-1
PK 11195 85532-75-8
Pregnanolone 128-20-1
rac BHFF 123557-91-5
Retigabine dihydrochloride Antiepileptic compound 150812-13-8
Ro 15-4513 91917-65-6
Ro 19-4603 99632-94-7
RuBi GABA trimethylphosphine
RuBi-GABA 1028141-88-9
Rufinamide 106308-44-5
Saclofen 125464-42-8
SB 205384 positive GABAA receptor modulator 160296-13-9
SCS 3232-36-8
SKF 89976A hydrochloride 85375-15-1
SKF 97541 127729-35-5
SR 95531 hydrobromide 104104-50-9
TACA 38090-53-8
TB 21007 207306-50-1
TCS 1105 185391-33-7
TCS 1205 355022-97-8
THIP hydrochloride 85118-33-8
TP 003 628690-75-5
TPMPA 182485-36-5
Tracazolate hydrochloride 1135210-68-2
trans-4-Hydroxycrotonic acid 24587-49-3
U 89843A 157013-85-9
U 90042 134516-99-7
U 93631 152273-12-6
Valerenic acid 3569-10-6
ZAPA sulfate 371962-01-5
ZK 93423 hydrochloride GABAA receptor agonist 1216574-52-5
ZK 93426 hydrochloride 1216792-30-1
β-CCB 84454-35-3
genes like me logo Genes that share compounds with GABRA1: view

Transcripts for GABRA1 Gene

Unigene Clusters for GABRA1 Gene

Gamma-aminobutyric acid (GABA) A receptor, alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GABRA1 (GABA-A R alpha 1)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA1 Gene

No ASD Table

Relevant External Links for GABRA1 Gene

GeneLoc Exon Structure for
GABRA1
ECgene alternative splicing isoforms for
GABRA1

Expression for GABRA1 Gene

mRNA expression in normal human tissues for GABRA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.6), Brain - Anterior cingulate cortex (BA24) (x8.3), Brain - Cerebellar Hemisphere (x7.6), Brain - Cortex (x6.6), and Brain - Cerebellum (x5.5).

Protein differential expression in normal tissues from HIPED for GABRA1 Gene

This gene is overexpressed in Frontal cortex (50.7), Retina (11.2), and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRA1 Gene



Protein tissue co-expression partners for GABRA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRA1 Gene:

GABRA1

SOURCE GeneReport for Unigene cluster for GABRA1 Gene:

Hs.175934
genes like me logo Genes that share expression patterns with GABRA1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GABRA1 Gene

Orthologs for GABRA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRA1 34
  • 93.64 (n)
  • 99.12 (a)
GABRA1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC489143 34
  • 94.15 (n)
  • 98.9 (a)
GABRA1 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra1 34
  • 91.65 (n)
  • 98.68 (a)
Gabra1 16
Gabra1 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRA1 34
  • 99.42 (n)
  • 100 (a)
GABRA1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra1 34
  • 90.7 (n)
  • 98.68 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRA1 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 98 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves GABRA1 34
  • 84.18 (n)
  • 96.04 (a)
GABRA1 35
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra1 34
  • 75.35 (n)
  • 84.11 (a)
zebrafish
(Danio rerio)
Actinopterygii gabra1 34
  • 77.65 (n)
  • 88.56 (a)
gabra1 35
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2338 34
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36
  • 43 (a)
Grd 36
  • 48 (a)
Species where no ortholog for GABRA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GABRA1 Gene

ENSEMBL:
Gene Tree for GABRA1 (if available)
TreeFam:
Gene Tree for GABRA1 (if available)

Paralogs for GABRA1 Gene

Paralogs for GABRA1 Gene

genes like me logo Genes that share paralogs with GABRA1: view

Variants for GABRA1 Gene

Sequence variations from dbSNP and Humsavar for GABRA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121434579 Juvenile myoclonic epilepsy 5 (EJM5) 161,895,774(+) CTATG(A/C)CTTTG reference, missense
rs587777308 Epileptic encephalopathy, early infantile, 19 (EIEE19) 161,873,196(+) CCTCC(A/G)GTTAA reference, missense
rs587777364 Epilepsy, idiopathic generalized 13 (EIG13) 161,882,653(+) AGTAT(A/G)ACCTT reference, missense
rs587777307 Epileptic encephalopathy, early infantile, 19 (EIEE19) 161,890,945(+) AGATT(A/G)GCTAC reference, missense
rs587777309 Epileptic encephalopathy, early infantile, 19 (EIEE19) 161,895,726(+) CCCTA(A/C)GGTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GABRA1 Gene

Variant ID Type Subtype PubMed ID
esv2533707 CNV deletion 19546169
esv34078 CNV loss 18971310
nsv600184 CNV loss 21841781

Variation tolerance for GABRA1 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRA1 Gene

Human Gene Mutation Database (HGMD)
GABRA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA1 Gene

Disorders for GABRA1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for GABRA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 19
  • eiee19
epilepsy, juvenile myoclonic 5
  • epilepsy, childhood absence 4
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
dravet syndrome
  • dravet syndrome, modifier of
gabra1-related juvenile myoclonic epilepsy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GBRA1_HUMAN
  • Epilepsy, childhood absence 4 (ECA4) [MIM:611136]: 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. {ECO:0000269 PubMed:16718694}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136]: 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. {ECO:0000269 PubMed:21714819}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]: A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability. {ECO:0000269 PubMed:24623842}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]: 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. {ECO:0000269 PubMed:11992121}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for GABRA1

Genetic Association Database (GAD)
GABRA1
Human Genome Epidemiology (HuGE) Navigator
GABRA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRA1
genes like me logo Genes that share disorders with GABRA1: view

No data available for Genatlas for GABRA1 Gene

Publications for GABRA1 Gene

  1. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. (PMID: 17440936) Loh E.W. … Stadlin A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 22 46 65
  2. Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities. (PMID: 16569738) Brito V.N. … Latronico A.C. (J. Clin. Endocrinol. Metab. 2006) 3 22 46 65
  3. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PMID: 16839746) Ma S. … Hedera P. (Epilepsy Res. 2006) 3 22 46 65
  4. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PMID: 16172613) Petryshen T.L. … Sklar P. (Mol. Psychiatry 2005) 3 22 46 65
  5. Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders. (PMID: 14706423) Horiuchi Y. … Arinami T. (Biol. Psychiatry 2004) 3 22 46 65

Products for GABRA1 Gene

Sources for GABRA1 Gene

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