Epileptic encephalopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Early-onset epileptic encephalopathy with STXBP1 mutation.
|
29718889 |
2018 |
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 |
Epileptic encephalopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.
|
29896790 |
2018 |
Epileptic encephalopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Duplicated regions involved STXBP1; the gene related to epileptic encephalopathy.
|
28899818 |
2017 |
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 |
Epileptic encephalopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
STXBP1 as a therapeutic target for epileptic encephalopathy.
|
28971703 |
2017 |
Epileptic encephalopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy.
|
26384463 |
2016 |
Epileptic encephalopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.
|
26212315 |
2016 |
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 |
Epileptic encephalopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy.
|
25418441 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
Epileptic encephalopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
|
21770924 |
2011 |
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 |
Epileptic encephalopathy
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Epileptic encephalopathy
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Epileptic encephalopathy
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|