Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:1825
Term: childhood absence epilepsy
Definition: A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)
Definition Source(s): MESH:D004832, url:http://en.wikipedia.org/wiki/Childhood_absence_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:103975199068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:28492532
GABRA1 ISORGD:151323139068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:28492532
GABRA1 ISORGD:85655079068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:16718694
GABRA1 ISORGD:85947419068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

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: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:16569738, PMID:26467025, PMID:28251550, PMID:28492532
GABRA1 ISORGD:86596269068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:16530959, PMID:25741868, PMID:26467025, PMID:28492532
GABRA1 ISORGD:86911549068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:28492532
GABRA1 ISORGD:86911569068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:28492532
GABRA1 ISORGD:86911589068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:28492532
GABRA1 ISORGD:86911609068941ClinVarClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4

PMID:28492532
Go Back to source page   Continue to Ontology report

NHLBI Logo

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