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GENE - TERM ANNOTATION REPORT

RGD ID: 1304667
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcna10
Name: potassium voltage-gated channel subfamily A member 10
Acc ID: DOID:0080416
Term: developmental and epileptic encephalopathy 32
Definition: A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25751627 "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)
Kcna10 ISOKCNA10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230
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