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<p>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&#xa0;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.</p>

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Update zu Empfehlungen des Expertenpanels Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE)

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月4日

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  • Christian M. Boßelmann,
  • Matias Wagner,
  • Ingo Borggräfe,
  • Christian Brandt,
  • Stefanie Didt,
  • Walid Fazeli,
  • Anja Grimmer,
  • Josua Kegele,
  • Karl-Martin Klein,
  • Gerhard Kluger,
  • Johannes Lemke,
  • Julia Löffler,
  • Bernd A. Neubauer,
  • Karen Müller-Schlüter,
  • Sarah von Spiczak,
  • Celina von Stülpnagel,
  • Yvonne Weber,
  • Stefan Wolking,
  • Ilona Krey

摘要

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.