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GENE - TERM ANNOTATION REPORT

CRRD ID: 13945562
Species: Sus scrofa
CRRD Object: Gene
Symbol: GABRA1
Name: gamma-aminobutyric acid type A receptor subunit alpha1
Acc ID: DOID:4890
Term: juvenile myoclonic epilepsy
Definition: A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Definition Source(s): MESH:D020190, url:http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy "DO", url:http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic "DO", url:http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo "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 ISORGD:7309029068941CTDCTD Direct Evidence: marker/mechanism

 
GABRA1 ISORGD:103960029068941ClinVarClinVar Annotator: match by term: Juvenile myoclonic epilepsy

 
GABRA1 ISORGD:115929199068941ClinVarClinVar Annotator: match by term: Juvenile myoclonic epilepsy

 
GABRA1 ISORGD:116468699068941ClinVarClinVar Annotator: match by term: Juvenile myoclonic epilepsy

 
GABRA1 ISORGD:116565309068941ClinVarClinVar Annotator: match by term: Juvenile myoclonic epilepsy

 
GABRA1 ISORGD:116584829068941ClinVarClinVar Annotator: match by term: Juvenile myoclonic epilepsy

 
GABRA1 ISORGD:210714119068941ClinVarClinVar Annotator: match by term: Juvenile myoclonic epilepsy

 
GABRA1 ISORGD:210714129068941ClinVarClinVar Annotator: match by term: Juvenile myoclonic epilepsy

 
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