The primary goal of our research is to use gene discovery and molecular biology approaches to identify new treatments for epilepsy. We aim to 1) identify the genetic causes of epilepsy, 2) use stem cell models to understand how genetic mutations can cause epilepsy, 3) develop and test new therapeutics for this condition. Our work is based on the promise of precision medicine where knowledge of an individual’s genetic makeup shapes a personalized approach to care and management of epilepsy.
Lamar KJ, Carvill GL Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy. Front Mol Neurosci 2018;11:208. doi:10.3389/fnmol.2018.00208
Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Ann Neurol 2018 May;83(5):926-934. doi:10.1002/ana.25222
- Follow us on twitter @CarvillLab
- Kay-Marie and Gemma have published a new comprehensive review on CHD2 published in Frontiers of Molecular Neuroscience
- Check out our new paper on CUX2 pathogenic variants published in Annals of Neurlogy