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GENE - TERM ANNOTATION REPORT

RGD ID: 2950
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcna2
Name: potassium voltage-gated channel subfamily A member 2
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)
Kcna2 ISOKCNA2 (Homo sapiens)7240710OMIM  
Kcna2 ISOKCNA2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Kcna2 ISOKCNA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-Related Disorder | ClinVar Annotator: match by term: KCNA2-related conditionPMID:15694325 PMID:16002579 PMID:17634333 PMID:18414213 PMID:20584892 PMID:20696761 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25741916 PMID:25751627 PMID:25950944 PMID:26467025 PMID:26599217 PMID:27062609 PMID:27117551 PMID:27457812 PMID:27543892 PMID:27733563 PMID:28019661 PMID:28032718 PMID:28204960 PMID:28492532 PMID:28806589 PMID:29050392 PMID:29100083 PMID:30182498 PMID:30283815 PMID:31170314 PMID:33232902 PMID:33624935 PMID:33802230 PMID:8663992 PMID:8663993
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