|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.
|
26537360 |
2016 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
|
26865513 |
2016 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
|
27184330 |
2016 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Whole-genome sequencing of quartet families with autism spectrum disorder.
|
25621899 |
2015 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
|
26514728 |
2015 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
|
23409955 |
2013 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
22495311 |
2012 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
|
22722545 |
2012 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intellectual disability without epilepsy associated with STXBP1 disruption.
|
21364700 |
2011 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Paternal mosaicism of an STXBP1 mutation in OS.
|
21062273 |
2011 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
|
21762454 |
2011 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
|
21770924 |
2011 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
|
20196795 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
|
20887364 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
|
21204804 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
|
20876469 |
2010 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
|
19557857 |
2009 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
|
18469812 |
2008 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Munc18-1 binds directly to the neuronal SNARE complex.
|
17301226 |
2007 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
|
16829045 |
2006 |