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GENE - TERM ANNOTATION REPORT

RGD ID: 737322
Species: Homo sapiens
RGD Object: Gene
Symbol: STXBP1
Name: syntaxin binding protein 1
Acc ID: HP:0200134
Term: Epileptic encephalopathy
Definition: A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Definition Source(s): PMID:21590624, PMID:23213494
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)
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 PMID:26865513 PMID:26918652 PMID:27159321 PMID:28135719 PMID:28492532
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:20887364 PMID:21762454 PMID:23934111 PMID:25741868 PMID:26648591 PMID:27171548 PMID:28387369 PMID:28492532 PMID:28947817
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

 
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:25741868
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:25741868
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:25741868
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:25741868
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:32581362
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:32581362
STXBP1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy

PMID:32581362
STXBP1 IAGP 8699517HPO OMIM:612164
STXBP1 IAGP 8699517HPO ORPHA:599373
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