Gene: STXBP1

Alternate names for this Gene: DEE4|MUNC18-1|N-Sec1|NSEC1|P67|RBSEC1|UNC18|unc-18A|unc18-1

Gene Summary: This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: syntaxin binding protein 1

Type of Gene: protein-coding

rs1564351388 in STXBP1 gene and Abnormal coordination PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

rs1554778417 in STXBP1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 26384463 2016 Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.

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

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 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

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

rs121918317 in STXBP1 gene and Epileptic Encephalopathy, Early Infantile, 4 PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

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

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

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

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

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

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

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

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24170257 2014 A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

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

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

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 24189369 2014 Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

PMID 25418441 2015 A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25497044 2015 Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 24315539 2014 Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.

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 27069701 2016 Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

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

rs1564351388 in STXBP1 gene and Global developmental delay PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

rs1564351388 in STXBP1 gene and Infantile Spasm PMID 26865513 2016 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

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.

rs1554777375 in STXBP1 gene and Muscle hypotonia PMID 20887364 2010 STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

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

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

rs1554777919 in STXBP1 gene and Overgrowth PMID 25714420 2015 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs587784453 in STXBP1 gene and X-linked infantile spasms PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

PMID 26544041 2015 Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

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

PMID 26918652 2016 We generated iPSC lines from a patient with Ohtahara syndrome (OS) harboring a heterozygous nonsense mutation of STXBP1 (c.1099C>T; p.R367X) and performed neuronal differentiation.

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

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

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

rs10819303 in STXBP1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.