Objective
In this research group, we want to clarify whether and how genetic mutations trigger a cascade of multidimensional epileptogenic processes and how these interact with brain development so that age-related epilepsy syndromes manifest themselves.
We will combine the following studies to this end:
genetic testing
...which should further decipher the "lack of heredity" in the rare epileptic encephalopathies and the frequent genetic generalised epilepsies in the largest data sets available worldwide;
Studies
...of cell-specific, secondary transcriptional changes (single cell RNA sequencing);
Bioinformatic analyses
...which integrate primary genetic and transcriptional data to identify epileptogenic gene networks and signalling pathways
functional investigations
...which determine the consequences of genetic mutations at different developmental stages:
(a) the biophysical and neuronal behaviour in heterologous and neuronal expression systems,
(b) the neurophysiological changes in specific neuronal cell populations and compartments, and(c)
the behaviour of entire networks in vivo.
