• search hit 53 of 21564
Back to Result List

Polygenic risk scores in epilepsy

  • An epilepsy diagnosis has large consequences for an individual but is often difficult to make in clinical practice. Novel biomarkers are thus greatly needed. Here, we give an overview of how thousands of common genetic factors that increase the risk for epilepsy can be summarized as epilepsy polygenic risk scores (PRS). We discuss the current state of research on how epilepsy PRS can serve as a biomarker for the risk for epilepsy. The high heritability of common forms of epilepsy, particularly genetic generalized epilepsy, indicates a promising potential for epilepsy PRS in diagnosis and risk prediction. Small sample sizes and low ancestral diversity of current epilepsy genome-wide association studies show, however, a need for larger and more diverse studies before epilepsy PRS could be properly implemented in the clinic.

Export metadata

Additional Services

Search Google Scholar Statistics
Metadaten
Author details:Henrike O. HeyneORCiDGND
DOI:https://doi.org/10.1515/medgen-2022-2146
ISSN:0936-5931
ISSN:1863-5490
Title of parent work (English):Medizinische Genetik
Publisher:De Gruyter
Place of publishing:Berlin
Publication type:Article
Language:English
Date of first publication:2022/09/22
Publication year:2022
Release date:2024/09/13
Tag:complex disease; epilepsy; genome-wide association study; polygenic score; risk prediction
Volume:34
Issue:3
Number of pages:6
First page:225
Last Page:230
Organizational units:Digital Engineering Fakultät / Hasso-Plattner-Institut für Digital Engineering GmbH
DDC classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Peer review:Referiert
Publishing method:Open Access / Hybrid Open-Access
License (German):License LogoCC-BY - Namensnennung 4.0 International
Accept ✔
This website uses technically necessary session cookies. By continuing to use the website, you agree to this. You can find our privacy policy here.