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GENE - TERM ANNOTATION REPORT

RGD ID: 12055108
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: GABRA1
Name: gamma-aminobutyric acid type A receptor subunit alpha1
Acc ID: DOID:1826
Term: epilepsy
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)
Definition Source(s): http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO" "DO", http://www.merriam-webster.com/medlineplus/epilepsy "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
GABRA1 ISOGABRA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Intractable seizurePMID:24623842 PMID:25741868 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28492532 PMID:29655203
GABRA1 ISOGABRA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: SeizurePMID:16530959 PMID:16569738 PMID:18414213 PMID:24623842 PMID:24909990 PMID:25741868 PMID:26467025 PMID:27353043 PMID:27521439 PMID:28251550 PMID:28492532 PMID:29655203
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