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GENE - TERM ANNOTATION REPORT

RGD ID: 2954
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcnb1
Name: potassium voltage-gated channel subfamily B member 1
Acc ID: DOID:1826
Term: epilepsy
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)
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" "DO", http://www.merriam-webster.com/medlineplus/epilepsy "DO" "DO", https://www.ilae.org/guidelines/definition-and-classification/ilae-classification-of-the-epilepsies-2017 "DO" "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)
Kcnb1disease_progressionISOKcnb1 (Mus musculus)126908006RGD  
Kcnb1susceptibilityISOKCNB1 (Homo sapiens)126908007RGDDNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) 
Kcnb1 ISOKCNB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SeizurePMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514
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