Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Our study strongly supports the use of holistic genetic approaches, encompassing CNV and mitochondrial analyses, in adults with epilepsy. Similar to pediatric cohorts, results may inform clinical care. Moreover, we report on phenotype expansions and a candidate gene discovery.
Authors
- Melanie Brügger (ORCID: https://orcid.org/0000-0002-6920-8550)
- Ekaterina Pataraia (ORCID: https://orcid.org/0000-0002-1454-7600)
- Theresa Brunet (ORCID: https://orcid.org/0000-0002-5183-780X)
- Ivan Milenković (ORCID: https://orcid.org/0000-0002-2990-0243)
- Karin Trimmel (ORCID: https://orcid.org/0000-0002-9203-5344)
- Juliane Winkelmann (ORCID: https://orcid.org/0000-0002-3074-599X)
- Rosa Weng (ORCID: https://orcid.org/0000-0002-0143-4260)
- Michelle Schwarz (ORCID: https://orcid.org/0000-0003-2328-9866)
- Elisabeth Graf (ORCID: https://orcid.org/0000-0002-1119-2285)
- Silvia Beatrice Bonelli (ORCID: https://orcid.org/0000-0002-6346-8474)
- Susanne Aull‐Watschinger (ORCID: https://orcid.org/0000-0002-1727-8100)
- Matias Wagner (ORCID: https://orcid.org/0000-0002-4454-8823)
- Fritz Zimprich (ORCID: https://orcid.org/0000-0002-6998-5480)
- Johannes Koren (ORCID: https://orcid.org/0000-0002-5290-2837)
- Jakob Rath (ORCID: https://orcid.org/0000-0001-6581-4572)
- Martin Krenn (ORCID: https://orcid.org/0000-0003-3026-3082)
- Judith Jud
- Christoph Baumgartner (ORCID: https://orcid.org/0000-0003-4766-988X)
Institutions
- TUM Klinikum (DE)
- Helmholtz Zentrum München (DE)
- Klinik Hietzing (AT)
- Karl Landsteiner Society (AT)
- Technical University of Munich (DE)
- Medical University of Vienna (AT)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-04-17
- DOI
- https://doi.org/10.1212/nxg.0000000000200260
- Citations
- 6
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 10.90