Brain and muscle channelopathies
Brain and muscle channelopathies: from bench to bedside
Theme: Treatments and translational neuroscience
Monday 24th April, 19:30 – 11:10
We offer novel insights into channelopathy disorders affecting the central and peripheral nervous system. Talks will be delivered by established and up and coming researchers who have shown innovation in channelopathy research with transformative translational results that have had major clinical impact. Specific topics include the interpretation of gene variants in epilepsy and how this impacts on clinical outcomes, novel gene therapy approaches for epilepsy, up to date in vivo techniques for assessing muscle channelopathies and how muscle channelopathies may be contributing to unexpected clinical presentations. Our theme is to highlight how we can share knowledge across brain and muscle channelopathies to advance the diagnosis and treatment of both. We will highlight the advantages of cross cutting work between disciplines and how these can be achieved. Channelopathy research benefits from mechanistic insights that other neurological disorders often lack, and we are able to give a decade's worth of insight into how to link gene mutations to changes in protein function, to disease mechanism, to new mechanistic based treatments. Prof Schorge will discuss novel approaches to treating epilepsy with the development of a gene therapy that has moved into exciting early clinical trials. Prof Brunklaus highlights how biophysical characterisation of variants in one sodium channel gene can predict channel function across different sodium channel genes where experimental data are not available and how this may inform precision therapy. Dr Matthews will show the diverse and sometimes unexpected role of muscle channels in diseases such as sudden infant death. She will discuss how this knowledge informs our approach to the diagnosis of other paroxysmal neurological disorders. Dr Suetterlin presents a novel in vivo approach to assessing muscle channel function in human and animal models, new insights gained from this method and how they impact our understanding of human disease.
- Emma Matthews, St George's University of London, UK: Muscle channelopathies: unexpected clinical phenotypes and what they teach us about other paroxysmal neurological disorders
- Andreas Brunklaus, Royal Hospital for Children, Glasgow and Glasgow University, UK: Gene variant effects across sodium channelopathies predict function and guide precision therapy
- Stephanie Schorge, University College London, UK: Harnessing mechanistic insights from channelopathies to develop gene therapies for non-genetic epilepsies (co-chair)
- Karen Suetterlin, Newcastle University, UK: Bridging the preclinical-clinical gap: reverse translation of muscle velocity recovery cycles allows in vivo assessment of skeletal muscle excitability in mice and humans (co-chair)