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GENE - TERM ANNOTATION REPORT

RGD ID: 3632
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scn2a
Name: sodium voltage-gated channel alpha subunit 2
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): PMID:28276062 "DO" "DO", PMID: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)
Scn2a ISOSCN2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479388 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20371507 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:23935176 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26993267 PMID:27491411 PMID:27779742 PMID:27781031 PMID:28379373 PMID:28492532 PMID:28709814 PMID:29068549 PMID:29100083 PMID:29655203 PMID:30381472 PMID:30619928 PMID:31054490 PMID:31302675 PMID:31780880 PMID:31904120 PMID:31904126 PMID:32400968 PMID:34782754 PMID:35431799 PMID:36684540 PMID:37578743
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