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GENE - TERM ANNOTATION REPORT

RGD ID: 1306143
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tbc1d24
Name: TBC1 domain family, member 24
Acc ID: DOID:0060681
Term: autosomal dominant nocturnal frontal lobe epilepsy
Definition: A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7895015 "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)
Tbc1d24 ISOTBC1D24 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant epilepsyPMID:27541164 PMID:28492532 PMID:28663785 PMID:31112829 PMID:33063868 PMID:3402014 PMID:34020146
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