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GENE - TERM ANNOTATION REPORT

RGD ID: 12154441
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: MECP2
Name: methyl-CpG binding protein 2
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", https://www.ilae.org/guidelines/definition-and-classification/ilae-classification-of-the-epilepsies-2017 "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)
MECP2 ISOMECP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: SeizurePMID:10767337 PMID:10854091 PMID:11055898 PMID:11245712 PMID:11524741 PMID:12075485 PMID:12111643 PMID:12180070 PMID:12615169 PMID:16077736 PMID:16473305 PMID:16690727 PMID:17089071 PMID:17142618 PMID:17387578 PMID:19914908 PMID:20151026 PMID:20301670 PMID:21160487 PMID:21954873 PMID:21982064 PMID:25741868 PMID:28492532 PMID:34837432
MECP2 ISOMECP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: SeizuresPMID:10767337 PMID:10854091 PMID:11055898 PMID:11245712 PMID:11524741 PMID:12075485 PMID:12111643 PMID:12180070 PMID:12615169 PMID:16077736 PMID:16473305 PMID:16690727 PMID:17089071 PMID:17142618 PMID:17387578 PMID:18174559 PMID:19914908 PMID:20151026 PMID:20301670 PMID:21160487 PMID:21954873 PMID:21982064 PMID:22277191 PMID:25741868 PMID:28492532 PMID:34837432
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