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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:1825
Term: childhood absence epilepsy
Definition: A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Childhood_absence_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, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4PMID:16718694 PMID:25741868 PMID:28492532
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