×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.
9545644
1998
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
A new paradigm for West syndrome based on molecular and cell biology.
16806828
2006
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
16829045
2006
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Munc18-1 binds directly to the neuronal SNARE complex.
17301226
2007
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
18469812
2008
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
19557857
2009
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
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
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
20876469
2010
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
20887364
2010
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Paternal mosaicism of an STXBP1 mutation in OS.
21062273
2011
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.
21204804
2010
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Intellectual disability without epilepsy associated with STXBP1 disruption.
21364700
2011
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
21762454
2011
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
21770924
2011
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
22495311
2012
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
22722545
2012
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
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
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
24623842
2014
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Dravet syndrome--from epileptic encephalopathy to channelopathy.
24836964
2014
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Whole-genome sequencing of quartet families with autism spectrum disorder.
25621899
2015
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
25714420
2015
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
25914188
2015
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
26514728
2015
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
Overgrowth
0.100
CausalMutation
CLINVAR
Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.
26537360
2016