Variant: rs1554776842 

    present in Gene: STXBP1
    present in Chromosome: 9
    Position on Chromosome: 127660080
    Alleles of this Variant: C/-

rs1554776842 in STXBP1 gene and Movement Disorders PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

PMID 27184330 2016 Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

PMID 24836964 2014 Dravet syndrome--from epileptic encephalopathy to channelopathy.

PMID 25914188 2015 Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 25714420 2015 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

PMID 25621899 2015 Whole-genome sequencing of quartet families with autism spectrum disorder.

PMID 21062273 2011 Paternal mosaicism of an STXBP1 mutation in OS.

PMID 18469812 2008 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

PMID 16806828 2006 A new paradigm for West syndrome based on molecular and cell biology.

PMID 9545644 1998 Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 20876469 2010 Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

PMID 26537360 2016 Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

PMID 19557857 2009 De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

PMID 21204804 2010 STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

PMID 22722545 2012 Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

PMID 23409955 2013 Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

PMID 21364700 2011 Intellectual disability without epilepsy associated with STXBP1 disruption.

PMID 17301226 2007 Munc18-1 binds directly to the neuronal SNARE complex.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 21762454 2011 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

PMID 21770924 2011 Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.