A big step forward. Disease natural history and clinical trial readiness are constantly discussed topics in the rare genetic epilepsy space. Additionally, these concepts have driven our work in the Helbig lab since the very beginning. So why then did last week’s launch of our group’s first prospective natural history study of STXBP1 and SYNGAP1 […]
Postsynaptic. SYNGAP1-related disorders are among the most common genetic developmental and epileptic encephalopathies with a unique clinical presentation. However, since the initial gene discovery in 2009, the clinical spectrum has expanded significantly to include a wider range of epilepsies and seizure types. Additionally, the SYNGAP1 community has grown to encompass hundreds of individuals reported in […]
SYNGAP1. This is the Epilepsiome page of SYNGAP1, a gene for generalized developmental and epileptic encephalopathy. SYNGAP1 was initially discovered in 2009 as non-syndromic intellectual disability (ID) gene. Since then, SYNGAP1 has established itself as a prominent monogenic cause for ID, generalized epilepsy, global developmental delay, and autism spectrum disorder. Here are the most recent blog posts that […]
SYNGAP1. This is the Epilepsiome page of SYNGAP1, a gene for intellectual disability, autism, and generalized epilepsy. SYNGAP1 was initially discovered in 2009 and has become a prominent gene for these conditions. Here are the most recent blog posts on SYNGAP1 Balanced translocations in neurodevelopmental disorders Less is more – gene identification in epileptic encephalopathies through […]
Mind the Gap. Ever since its discovery in 2009, SYNGAP1 has been a prominent gene connected to autism and intellectual disability. However, even though probably more than half of all patients with pathogenic SYNGAP1 variants have seizures, it was never a gene that was particularly prominent in the epilepsy field. In a recent publication, we […]
Physics. When I tried to summarize the STXBP1 Summit in Colorado on my way back, I got stuck with the concept of momentum. Lots of things are happening in the world of STXBP1 disorders, but the most important thing is momentum, defined by Merriam-Webster as strength or force gained by motion or by a series […]
STXBP1. This is the Epilepsiome page for STXBP1, one of the most common genetic etiologies for epilepsy and neurodevelopmental disorders. While STXBP1 was implicated in human disease in individuals with Ohtahara Syndrome in 2008, the phenotypic spectrum has greatly expanded and is recognized as a prominent gene for epileptic encephalopathies with clinical features including but not limited […]
Framework. Neurogenetics is evolving, and so is the way we think about the connection between genes and seizures. Over the last few years, several new frameworks of thinking have entered the epilepsy genetics sphere that allow us to think about epilepsy genetics with more nuance. This blog post is dedicated to five known or emerging […]
SNAREopathies. This post continues the series on SNAREopathies, a group of neurodevelopmental conditions caused by variants in genes encoding components that form the SNARE complex and regulatory proteins. As previously described, the SNARE complex is the molecular machinery driving synaptic vesicle release in the presynapse, which enables communication between neurons. Here, we expand the discussion […]
SNARE complex. This is the first post in our series on SNAREopathies – an umbrella term for diseases caused by variants in the soluble NSF attachment protein receptor (SNARE) complex, that is essential for neuronal synaptic vesicle exocytosis in the presynapse. The core SNARE complex comprises a four-helix bundle consisting of two SNAP25 helices, which […]
