Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene. [5] This gene encodes a syntaxin-binding protein. The encoded protein …

STXBP1 is essential for neurotransmitter release, the key mechanism by which neurons communicate with one another. STXBP1 is part of the SNARE complex, which also includes …

stxbp1. 基因产物：突触融合蛋白结合蛋白1。 蛋白功能：主要在脑内表达，通过与snare复合体的相互作用，在突触小泡和突触前膜的对接及融合过程中扮演着重要的角色，对神经递质释放的 …

All children with an STXBP1-related disorder have a pathogenic variant (“mutation”) in the gene STXBP1, which encodes the instructions to make a protein in the brain that is essential to how …

2021年2月1日 · STXBP1-related disorders comprise a spectrum of rare autosomal dominant neurodevelopmental conditions caused by changes in the STXBP1 gene. STXBP1-related …

2016年12月1日 · STXBP1 encephalopathy with epilepsy is an autosomal dominant disorder typically caused by a de novo pathogenic variant. Most individuals reported to date represent …

2025年3月30日 · STXBP1 (Syntaxin Binding Protein 1) is a Protein Coding gene. Diseases associated with STXBP1 include Developmental And Epileptic Encephalopathy 4 and Infantile …

STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent …

2024年9月1日 · STXBP1 encephalopathy (STXBP1-E) is a rare neurodevelopmental disorder that includes epilepsy; it is caused by de novo STXBP1 mutations. In clinical settings, …

Mutations in Munc18-1/STXBP1 (syntaxin-binding protein 1) are linked to various severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous mutations in the …