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GENE - TERM ANNOTATION REPORT

RGD ID: 732211
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNB1
Name: potassium voltage-gated channel subfamily B member 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)
KCNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myoclonic absence seizurePMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 PMID:31512327 PMID:31513310 PMID:31600826 PMID:32581362
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