STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Early-onset epileptic encephalopathy with STXBP1 mutation. 29718889 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. 29897043 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy. 29896790 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 Biomarker disease BEFREE Duplicated regions involved STXBP1; the gene related to epileptic encephalopathy. 28899818 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 Biomarker disease BEFREE While Munc18-1 interacts with Syntaxin1 and controls the formation of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNARE) complex to regulate presynaptic vesicle fusion in developed neurons, this molecule is likely to be involved in brain development since its gene abnormalities cause early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome), neonatal epileptic encephalopathy and other neurodevelopmental disorders. 29191246 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 Biomarker disease BEFREE STXBP1 as a therapeutic target for epileptic encephalopathy. 28971703 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 Biomarker disease BEFREE We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. 26384463 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation. 26212315 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 Biomarker disease BEFREE STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy. 26865513 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. 25418441 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Thus, our results confirm that using engineered human embryonic stem (ES) cells is a viable approach to studying disease-associated mutations in human neurons on a controlled genetic background, demonstrate that partial STXBP1 loss of function robustly impairs neurotransmitter release in human neurons, and suggest that heterozygous STXBP1 mutations cause early epileptic encephalopathy specifically through a presynaptic impairment. 26280581 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Mutations in STXBP1 have first been reported in early onset epileptic encephalopathy with suppression-bursts, then in infantile spasms and, more recently, in patients with non syndromic mental retardation without epilepsy. 24189369 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 Biomarker disease BEFREE Somatic mosaicism, including germline, has been described in several epileptic encephalopathies such as Dravet syndrome, KCNQ2 neonatal epileptic encephalopathy, SCN8A epileptic encephalopathy and STXBP1 related Ohtahara syndrome. 24814476 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. 24170257 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency. 24095819 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. 23409955 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924 2011
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease BEFREE Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural brain anomalies. 21762454 2011
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.200 CausalMutation disease CLINVAR