STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype BEFREE A literature review of STXBP1 mutation cases in which ACTH was administered showed that complete seizure control is observed in 60% of cases, 20% are partially affected, and the remaining 20% show no effect. 29718889 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype BEFREE Expert opinion: Current treatment for STXBP1-E is largely limited to seizure control and future therapies will need to target the developmental aspects of the disease as well. 28971703 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype BEFREE Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 23409955 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype BEFREE STXBP1 was screened in a multicenter cohort of 52 patients with early onset epilepsy (first seizure observed before the age of 3 months), no cortical malformation on brain magnetic resonance imaging (MRI), and negative metabolic screening. 21770924 2011
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype HPO