Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
Biomarker
|
disease |
BEFREE |
Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.
|
29217410 |
2018 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, our data reveal that STXBP1 mutations associated with the Ohtahara syndrome do not necessarily result in protein haploinsufficiency.
|
29067685 |
2017 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This previously unreported STXBP1 mutation in a subject with Ohtahara syndrome and non-lesional magnetic resonance imaging (MRI) broadens the mutational spectrum associated with this devastating epileptic syndrome.
|
25631041 |
2016 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the STXBP1 gene (MUNC18-1) were first described to cause Ohtahara syndrome (Early infantile epileptic encephalopathy, EIEE)(12-14) characterized by very early infantile epileptic encephalopathy with frequent tonic spasms and a suppression-burst pattern on electroencephalogram.
|
27184330 |
2016 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients.
|
26514728 |
2015 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes Munc18-1, a core component of the presynaptic membrane-fusion machinery, cause infantile early epileptic encephalopathy (Ohtahara syndrome), but it is unclear how a partial loss of Munc18-1 produces this severe clinical presentation.
|
26280581 |
2015 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For infants presenting with Ohtahara syndrome with responsiveness to folinic acid and negative antiquitin deficiency analyses, genetic testing for other possible causative genes such as STXBP1 mutation is recommended.
|
24315539 |
2014 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as "early infantile epileptic encephalopathy".
|
23531706 |
2013 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
Biomarker
|
disease |
BEFREE |
STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy.
|
24095819 |
2013 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
STXBP1 and ARX mutations have been reported in patients with OS.
|
22709267 |
2012 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This is a first report of somatic mosaicism of an STXBP1 mutation, which has implications in genetic counseling of OS.
|
21062273 |
2011 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
Biomarker
|
disease |
BEFREE |
We confirm that STXBP1 is a major gene to screen in cases of Ohtahara syndrome, since it is mutated in >10% of the Ohtahara patients within our cohort.
|
21770924 |
2011 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
|
21204804 |
2010 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study shows that mutations in STXBP1 are not limited to patients with Ohtahara syndrome, but are also present in 10% (5/49) of patients with an early-onset epileptic encephalopathy that does not fit into either Ohtahara or West syndrome and rarely in typical West syndrome.
|
20876469 |
2010 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
|
18469812 |
2008 |