Research Area
Epilepsy, Genetics, Neuromuscular Diseases
Principle Investigator(s)
Abstract
My main research interest is the genetic background of neurological diseases with a focus on complex epilepsies and rare neuromuscular disorders (such as inherited polyneuropathies, myopathies and spastic paraplegia). I particularly investigate the clinical utility of next-generation sequencing (NGS) techniques to detect ultra-rare and pathogenic variants in these diseases. Further, I have collaborated within the framework of the international consortia EpiPGX and Epi25.