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VARIANT - TERM ANNOTATION REPORT

RGD ID: 14696568
Species: Homo sapiens
RGD Object: Variant
Symbol: CV622055
Name: NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg)
Acc ID: DOID:9001793
Term: Generalized Epilepsy
Definition: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Definition Source(s): MESH:D004829
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)
CV622055 IAGP 8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathyPMID:25741868 PMID:26477325 PMID:28492532 PMID:31513310
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