Condition: Epileptic Encephalopathy, Early Infantile, 4


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.