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GENE - TERM ANNOTATION REPORT

RGD ID: 631360
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacna2d2
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 2
Acc ID: DOID:0050709
Term: early infantile epileptic encephalopathy
Definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO" "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "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)
Cacna2d2 ISOCACNA2D2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathyPMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802 PMID:31785789 PMID:33798445 PMID:9536098
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