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GENE - TERM ANNOTATION REPORT

CRRD ID: 12295714
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: GABRG2
Name: gamma-aminobutyric acid type A receptor subunit gamma2
Acc ID: DOID:3329
Term: benign epilepsy with centrotemporal spikes
Definition: An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)
Definition Source(s): MESH:D019305
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)
GABRG2 ISORGD:103960129068941ClinVarClinVar Annotator: match by term: Rolandic epilepsy

PMID:29358611
GABRG2 ISORGD:136103349068941ClinVarClinVar Annotator: match by term: Rolandic epilepsy

PMID:29358611
GABRG2 ISORGD:85726009068941ClinVarClinVar Annotator: match by term: Rolandic epilepsy

PMID:23708187, PMID:25726841, PMID:25730860, PMID:27864268, PMID:28492532, PMID:29100083, PMID:29358611
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.