Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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 | 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 | 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 | A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. | 25714420 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Whole-genome sequencing of quartet families with autism spectrum disorder. | 25621899 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Dravet syndrome--from epileptic encephalopathy to channelopathy. | 24836964 | 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 | 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 | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. | 23020937 | 2012 | |||||
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 | STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. | 21762454 | 2011 | |||||
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 | 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 | Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. | 20876469 | 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 | STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. | 20887364 | 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 | A new paradigm for West syndrome based on molecular and cell biology. | 16806828 | 2006 |