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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10054702
Species: Homo sapiens
RGD Object: Variant
Symbol: CV187842
Name: NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
Acc ID: DOID:0112202
Term: developmental and epileptic encephalopathy
Definition: An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "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)
CV187842 IAGP 8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:17054684 PMID:17347258 PMID:18930999 PMID:23808377 PMID:25741868 PMID:26096185 PMID:27465585 PMID:28492532
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