|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation.
|
29544889 |
2018 |
|
X-linked infantile spasms
|
0.200 |
Biomarker
|
disease |
BEFREE |
Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.
|
29217410 |
2018 |
|
X-linked infantile spasms
|
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 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
|
27779742 |
2017 |
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, our data reveal that STXBP1 mutations associated with the Ohtahara syndrome do not necessarily result in protein haploinsufficiency.
|
29067685 |
2017 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
|
26865513 |
2016 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
|
26918652 |
2016 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
|
25693842 |
2016 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
|
26544041 |
2015 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The authors suggest that in spite of the rarity of STXBP1 mutations, molecular analysis of STXBP1 gene should be performed in patients with early infantile epileptic encephalopathy, after exclusion of ARX mutations in male patients and CDKL5 mutations in female patients.
|
23533165 |
2015 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
|
26514728 |
2015 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The genetic landscape of infantile spasms.
|
24781210 |
2014 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
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 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as "early infantile epileptic encephalopathy".
|
23531706 |
2013 |
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant).
|
21967765 |
2012 |
|
X-linked infantile spasms
|
0.200 |
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 |