Research & Innovation
Publications
Update zu Empfehlungen des Expertenpanels Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE)
PMU Authors
Gerhard Kluger, Celina von Stulpnagel
All Authors
Christian M. Bosselmann, Matias Wagner, Ingo Borggrafe, Christian Brandt, Stefanie Didt, Walid Fazeli, Anja Grimmer, Josua Kegele, Karl-Martin Klein, Gerhard Kluger, Johannes Lemke, Julia Loffler, Bernd A. Neubauer, Karen Muller-Schluter, Sarah von Spiczak, Celina von Stulpnagel, Yvonne Weber, Stefan Wolking, Ilona Krey
Journal association
CLINICAL EPILEPTOLOGY
Abstract
The field of clinical and molecular genetics for people with epilepsy is rapidly evolving. In this review article the expert panel "epilepsy and genetics" of the German Society for Epileptology (DGfE) provides a practice-oriented, up to date overview of recent developments, both clinically established and currently only carried out in the context of research. These build on the previous version of the general recommendations from 2023 and supplement them with additional specific aspects. The review highlights modern approaches to interpreting variants of uncertain significance, strategies for unresolved cases using novel sequencing technologies and omics approaches, the growing role of preoperative and postoperative sequencing in epilepsy surgery and risk stratification based on polygenic risk scores. Together, these aspects can have direct clinically applicable implications for all areas of epileptology.
Keywords
Variant interpretation, Genetic Testing, Omics, Polygenic scores, Presurgical epilepsy diagnostics