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GENE - TERM ANNOTATION REPORT

RGD ID: 1621607
Species: Mus musculus
RGD Object: Gene
Symbol: Mef2c
Name: myocyte enhancer factor 2C
Acc ID: DOID:1826
Term: epilepsy
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)
Definition Source(s): http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO" "DO", http://www.merriam-webster.com/medlineplus/epilepsy "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)
Mef2c ISOMEF2C (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:20412115 PMID:29942082
Mef2c ISOMEF2C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: SeizurePMID:25741868
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