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GENE - TERM ANNOTATION REPORT

RGD ID: 732211
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNB1
Name: potassium voltage-gated channel subfamily B member 1
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 "DO" "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "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)
KCNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathyPMID:31600826
KCNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: developmental encephalopathy with epilepsyPMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 PMID:31512327 PMID:31513310 PMID:31600826 PMID:32581362
KCNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: developmental encephalopathy with epilepsyPMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514
KCNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathyPMID:25741868 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:29758562 PMID:31512327 PMID:31513310 PMID:31600826 PMID:32954514 PMID:33951346
KCNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathyPMID:25741868
KCNB1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathy 
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