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GENE - TERM ANNOTATION REPORT

CRRD ID: 1304638
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Coq4
Name: coenzyme Q4
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, http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13121928554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathy

PMID:18469812, PMID:26865513, PMID:28492532, PMID:29264391
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.