Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review
This case highlights the diagnostic challenges of SHE and the importance of genetic testing in drug-resistant epilepsy. The identified <i>NPRL3</i> mutation shows the genetic complexity of SHE and its implications for treatment.
Authors
- Gudrun Kalss (ORCID: https://orcid.org/0000-0002-4311-1734)
- Fabio Rossini (ORCID: https://orcid.org/0000-0001-7300-7877)
- Serena Broggi (ORCID: https://orcid.org/0000-0003-3987-9772)
- Markus Leitinger (ORCID: https://orcid.org/0000-0003-0284-1914)
- Angela Abicht
- Eugen Trinka
- Kai-Nicolas Poppert
Institutions
- Paracelsus Medical University (AT)
- Stroke Association (GB)
- Medical Genetics Center (DE)
- Friedrich Baur Stiftung (DE)
- Cognitive Research (United States) (US)
- Karl Landsteiner Society (AT)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2026-01-19
- DOI
- https://doi.org/10.3389/fnins.2025.1669847
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00