|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
|
18469812 |
2008 |
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
|
21204804 |
2010 |
|
X-linked infantile spasms
|
0.200 |
Biomarker
|
disease |
BEFREE |
Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable).
|
20493457 |
2010 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
|
20887364 |
2010 |
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
|
20887364 |
2010 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
|
21762454 |
2011 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
X-linked infantile spasms
|
0.200 |
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 |
|
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 |
|
X-linked infantile spasms
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
STXBP1 and ARX mutations have been reported in patients with OS.
|
22709267 |
2012 |
|
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 |
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 |
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 |