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GENE - TERM ANNOTATION REPORT

RGD ID: 621714
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sptan1
Name: spectrin, alpha, non-erythrocytic 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"
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)
Sptan1 ISOSPTAN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: SeizuresPMID:18414213 PMID:20228407 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:29358611 PMID:33818783
Sptan1 ISOSPTAN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: SeizuresPMID:18414213 PMID:20228407 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:29358611
Sptan1 ISOSPTAN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SeizurePMID:25741868 PMID:28492532 PMID:33818783
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