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GENE - TERM ANNOTATION REPORT

CRRD ID: 12123175
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: PNPO
Name: pyridoxamine 5'-phosphate oxidase
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): http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO", http://www.merriam-webster.com/medlineplus/epilepsy "DO", MESH:D004827
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)
PNPO ISORGD:110495989068941ClinVarClinVar Annotator: match by term: Seizures

PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:28492532, PMID:30311386
PNPO ISORGD:115506039068941ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868
PNPO ISORGD:138285289068941ClinVarClinVar Annotator: match by term: Seizures

 
PNPO ISORGD:138290129068941ClinVarClinVar Annotator: match by term: Seizures

 
PNPO ISORGD:138304619068941ClinVarClinVar Annotator: match by term: Seizures

PMID:28492532
PNPO ISORGD:86603929068941ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868, PMID:26467025
PNPO ISORGD:86603939068941ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868
PNPO ISORGD:86603949068941ClinVarClinVar Annotator: match by term: Seizures

PMID:26467025, PMID:28492532
PNPO ISORGD:86603959068941ClinVarClinVar Annotator: match by term: Seizures

PMID:25741868
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