Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Early infantile epileptic encephalopathy with suppression bursts
0.400 Biomarker disease BEFREE Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome. 29217410 2018
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE Furthermore, our data reveal that STXBP1 mutations associated with the Ohtahara syndrome do not necessarily result in protein haploinsufficiency. 29067685 2017
Early infantile epileptic encephalopathy with suppression bursts
0.400 Biomarker disease BEFREE While Munc18-1 interacts with Syntaxin1 and controls the formation of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNARE) complex to regulate presynaptic vesicle fusion in developed neurons, this molecule is likely to be involved in brain development since its gene abnormalities cause early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome), neonatal epileptic encephalopathy and other neurodevelopmental disorders. 29191246 2017
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE This previously unreported STXBP1 mutation in a subject with Ohtahara syndrome and non-lesional magnetic resonance imaging (MRI) broadens the mutational spectrum associated with this devastating epileptic syndrome. 25631041 2016
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE Mutations in the STXBP1 gene (MUNC18-1) were first described to cause Ohtahara syndrome (Early infantile epileptic encephalopathy, EIEE)(12-14) characterized by very early infantile epileptic encephalopathy with frequent tonic spasms and a suppression-burst pattern on electroencephalogram. 27184330 2016
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. 26514728 2015
Early infantile epileptic encephalopathy with suppression bursts
0.400 Biomarker disease BEFREE Heterozygous mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes Munc18-1, a core component of the presynaptic membrane-fusion machinery, cause infantile early epileptic encephalopathy (Ohtahara syndrome), but it is unclear how a partial loss of Munc18-1 produces this severe clinical presentation. 26280581 2015
Early infantile epileptic encephalopathy with suppression bursts
0.400 Biomarker disease BEFREE Somatic mosaicism, including germline, has been described in several epileptic encephalopathies such as Dravet syndrome, KCNQ2 neonatal epileptic encephalopathy, SCN8A epileptic encephalopathy and STXBP1 related Ohtahara syndrome. 24814476 2014
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE For infants presenting with Ohtahara syndrome with responsiveness to folinic acid and negative antiquitin deficiency analyses, genetic testing for other possible causative genes such as STXBP1 mutation is recommended. 24315539 2014
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as "early infantile epileptic encephalopathy". 23531706 2013
Early infantile epileptic encephalopathy with suppression bursts
0.400 Biomarker disease BEFREE STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy. 24095819 2013
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE Mutations of the syntaxin binding protein 1 (STXBP1) have been associated with severe infantile epileptic encephalopathies (Ohtahara syndrome and West syndrome), but also with moderate to severe cognitive impairment and nonsyndromic epilepsy. 22596016 2012
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE STXBP1 and ARX mutations have been reported in patients with OS. 22709267 2012
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE De novo missense mutations in STXBP1 were recently reported in patients with Ohtahara syndrome, a form of encephalopathy with severe early-onset epilepsy. 21364700 2011
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE This is a first report of somatic mosaicism of an STXBP1 mutation, which has implications in genetic counseling of OS. 21062273 2011
Early infantile epileptic encephalopathy with suppression bursts
0.400 Biomarker disease BEFREE We confirm that STXBP1 is a major gene to screen in cases of Ohtahara syndrome, since it is mutated in >10% of the Ohtahara patients within our cohort. 21770924 2011
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. 21204804 2010
Early infantile epileptic encephalopathy with suppression bursts
0.400 GeneticVariation disease BEFREE This study shows that mutations in STXBP1 are not limited to patients with Ohtahara syndrome, but are also present in 10% (5/49) of patients with an early-onset epileptic encephalopathy that does not fit into either Ohtahara or West syndrome and rarely in typical West syndrome. 20876469 2010
Early infantile epileptic encephalopathy with suppression bursts
0.400 GermlineCausalMutation disease ORPHANET De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008