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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 11049598
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV224877
Name: NM_018129.4(PNPO):c.674G>A (p.Arg225His)
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)
CV224877 IAGP 8554872ClinVarClinVar Annotator: match by term: Seizures

PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:28492532, PMID:30311386
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.