Startseite
English
Erweiterte Suche
Durchblättern nach ...
Publikationen im Überblick
Ansprechpartner
Hilfe
Verlagsversion
DOI
 |
Open Access Hybrid |
|
möglich sobald bei der ZB eingereicht worden ist.
Update zu Empfehlungen des Expertenpanels Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE).
Clin. Epileptol., DOI: 10.1007/s10309-026-00832-1 (2026)
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.
Altmetric
Weitere Metriken?
Zusatzinfos bearbeiten
[➜Einloggen]
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Positionspapier
Schlagwörter
Context (archaeology) ; Biophysical Profile ; Congenital Malformations; Classification; Malformations; Clingen; Complex; Surgery
ISSN (print) / ISBN
2948-104X
e-ISSN
2948-1058
Zeitschrift
Clinical Epileptology
Verlag
Springer
Verlagsort
Tiergartenstrasse 17, D-69121 Heidelberg, Germany
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
RWTH Aachen University (3131)