|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Given the role of STXBP1 in exocytosis of neurotransmitters and other manifestations of dopamine dysregulation in patients with STXBP1-EIEE4, we suggest that in patients with STXBP1 encephalopathy, A-BRX might be the result of the involvement of dopaminergic circuits.
|
30654231 |
2019 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Our work illustrates the diversity of the pathophysiological pathways in CA, and highlights the pathogenic link between some CA and early infantile epileptic encephalopathies related to the same genes (STXBP1, BRAT1, CACNA1A and CACNA2D2).
|
29997391 |
2019 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
These iPSC clones showed pluripotent characteristics while retaining the genotype and demonstrated trilineage differentiation capability, indicating their utility in disease-modeling studies, i.e., STXBP1-encephalopathy.
|
31255830 |
2019 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
De novo pathogenic variants in <i>STXBP1</i> encoding syntaxin1-binding protein (STXBP1, also known as Munc18-1) lead to a range of early-onset neurocognitive conditions, most commonly early infantile epileptic encephalopathy type 4 (EIEE4, also called STXBP1 encephalopathy), a severe form of epilepsy associated with developmental delay/intellectual disability.
|
31221716 |
2019 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Taken together, these data demonstrate the construct, face and predictive validity of Stxbp1+/- mice and point to protein instability, haploinsufficiency and imbalanced excitation in neocortex, as the underlying mechanism of STXBP1-encephalopathy.
|
29538625 |
2018 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review.
|
29718889 |
2018 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We demonstrate that the three chemical chaperones 4-phenylbutyrate, sorbitol, and trehalose reverse the deficits caused by mutations in Munc18-1 in vitro and in vivo in multiple models, offering a novel strategy for the treatment of varied encephalopathies.
|
30266908 |
2018 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
In this review we hypothesize about the potential of STXBP1 as a therapeutic target in the field of epileptic encephalopathies.
|
28971703 |
2017 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.
|
29067685 |
2017 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
FOXG1 syndrome is as an epileptic-dyskinetic encephalopathy whose clinical presentation bears similarities with ARX- and STXBP1-gene related encephalopathies.
|
26344814 |
2016 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy.
|
26865513 |
2016 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The potential mechanisms explaining the variable clinical phenotypes caused by STXBP1 mutations are discussed and the designation of early-onset epileptic encephalopathies, including an updated genetic classification, is proposed to encompass the epileptic encephalopathies beginning in the first 6 months of life.
|
23533165 |
2015 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our data confirm that STXBP1 mutations are associated with neonatal-infantile epileptic encephalopathies.
|
26514728 |
2015 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
The present case further expands the clinical spectrum of "STXBP1-related encephalopathy" suggesting molecular analysis of STXBP1 in early onset epileptic encephalopathies of unknown etiology (with onset within the first year of life).
|
24170257 |
2014 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We analyzed clinical evolution and brain magnetic resonance imaging in 7 patients (6 females, 1 male) with early onset epileptic encephalopathies associated with STXBP1 mutations.
|
24189369 |
2014 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Head and upper limb stereotypies are valuable clinical clues to the diagnosis of STXBP1 encephalopathy in patients with profound impairments.
|
23763664 |
2013 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
|
23409955 |
2013 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
STXBP1 haploinsufficiency results in progressive encephalopathy characterized by intellectual disability and may be accompanied by epilepsy, movement disorders, and autism.
|
22722545 |
2012 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations of the syntaxin binding protein 1 (STXBP1) have been associated with severe infantile epileptic encephalopathies (Ohtahara syndrome and West syndrome), but also with moderate to severe cognitive impairment and nonsyndromic epilepsy.
|
22596016 |
2012 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
De novo missense mutations in STXBP1 were recently reported in patients with Ohtahara syndrome, a form of encephalopathy with severe early-onset epilepsy.
|
21364700 |
2011 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Although the phenotypic spectrum of STXBP1-related encephalopathy is emerging with evidence suggesting the relatively frequent involvement of this gene in infantile epileptic encephalopathies, accurate clinical descriptions of patients are still necessary to delineate this entity.
|
21762454 |
2011 |
|
Encephalopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
|
20876469 |
2010 |
|
Encephalopathies
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|