West Syndrome
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Here, we performed WES on four trios with West syndrome and identified three loss-of-function DNMs in both CSNK1E (c.885+1G>A) and STXBP1 (splicing, c.1111-2A>G; nonsense, p.(Y519X)).
|
30488659 |
2019 |
West Syndrome
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
According to epilepsy syndromes, the diagnostic yield was the highest among patients with West syndrome (WS) with a history of neonatal seizures and mutations in KCNQ2 and STXBP1 were most frequently identified.
|
29455050 |
2018 |
West Syndrome
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
STXBP1 mutations were the main findings in patients with West syndrome.
|
29314583 |
2018 |
West Syndrome
|
0.490 |
GermlineCausalMutation
|
disease |
ORPHANET |
In the present study, we performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs.
|
25497044 |
2015 |
West Syndrome
|
0.490 |
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 |
West Syndrome
|
0.490 |
GermlineCausalMutation
|
disease |
ORPHANET |
STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges.
|
21762454 |
2011 |
West Syndrome
|
0.490 |
Biomarker
|
disease |
BEFREE |
STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges.
|
21762454 |
2011 |
West Syndrome
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay.
|
20493457 |
2010 |
West Syndrome
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
This is the first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy.
|
21204804 |
2010 |
West Syndrome
|
0.490 |
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 |
West Syndrome
|
0.490 |
Biomarker
|
disease |
BEFREE |
STXBP1 was analyzed in 29 and 54 cases of cryptogenic EIEE and West syndrome, respectively, as a second cohort.
|
20887364 |
2010 |
West Syndrome
|
0.490 |
Biomarker
|
disease |
HPO |
|
|
|