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GENE - TERM ANNOTATION REPORT

RGD ID: 619864
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gabbr2
Name: gamma-aminobutyric acid type B receptor subunit 2
Acc ID: DOID:9001793
Term: Generalized Epilepsy
Definition: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Definition Source(s): MESH:D004829
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)
Gabbr2 ISOGABBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathyPMID:16199547 PMID:17576681 PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28856709 PMID:29100083 PMID:32860008 PMID:34055682 PMID:9536098
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