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GENE - TERM ANNOTATION REPORT

RGD ID: 69364
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scn1a
Name: sodium voltage-gated channel alpha subunit 1
Acc ID: DOID:9005154
Term: Myoclonic Epilepsies
Definition: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Definition Source(s): MESH:D004831
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)
Scn1a ISOSCN1A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12907273 PMID:19099883 PMID:21480876 PMID:29929108 PMID:30123852
Scn1a ISOSCN1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsyPMID:17347258 PMID:28492532 PMID:35571373
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