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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:3329
Term: benign epilepsy with centrotemporal spikes
Definition: A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19172991/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK534845/ "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: Rolandic epilepsyPMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:31515523
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