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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:1826
Term: epilepsy
Definition: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Definition Source(s): MESH:D004827, url:http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO", url:http://www.merriam-webster.com/medlineplus/epilepsy "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:115601929068941ClinVarClinVar Annotator: match by term: Intractable seizure

PMID:27353043, PMID:27521439, PMID:28492532, PMID:29655203
GABRA1 ISORGD:135323639068941ClinVarClinVar Annotator: match by term: Seizures

PMID:11992121, PMID:16718694, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:26918889, PMID:27521439, PMID:9126483
GABRA1 ISORGD:136173909068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:136173949068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:138288999068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138305729068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138306089068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138306709068941ClinVarClinVar Annotator: match by term: Seizures

 
GABRA1 ISORGD:138307329068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:85947419068941ClinVarClinVar Annotator: match by term: Epilepsy

PMID:11992121, PMID:16718694, PMID:20551311, PMID:21714819, PMID:22190369, PMID:23934111, PMID:24623842, PMID:24811917, PMID:25741868, PMID:26918889, PMID:27521439, PMID:28492532, PMID:9126483
GABRA1 ISORGD:86403549068941ClinVarClinVar Annotator: match by term: Seizures

PMID:16569738, PMID:26467025, PMID:28251550, PMID:28492532
GABRA1 ISORGD:86596249068941ClinVarClinVar Annotator: match by term: Seizures

PMID:18414213, PMID:25741868, PMID:26467025
GABRA1 ISORGD:86596269068941ClinVarClinVar Annotator: match by term: Seizures

PMID:16530959, PMID:25741868, PMID:26467025, PMID:28492532
GABRA1 ISORGD:86911539068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:86911549068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:86911589068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
GABRA1 ISORGD:86911609068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.