Variant: rs121918317 

    present in Gene: STXBP1
    present in Chromosome: 9
    Position on Chromosome: 127682489
    Alleles of this Variant: G/A;T

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.