Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1
Despite greater white matter degeneration and reduced cortical thickness, APOE ε4 carriers exhibited preserved deep brain volumes and better self-reported well-being. This study highlights the complex interplay between genetic factors and neurodegenerative processes. Our future research aims to provide more natural history data of EPM1 and correlate long-term phenotypic data with additional geno-phenotypic analyses.
Authors
- Yawu Liu (ORCID: https://orcid.org/0000-0003-2386-3370)
- Juhana Hakumäki (ORCID: https://orcid.org/0000-0001-7341-5440)
- Reetta Kälviäinen (ORCID: https://orcid.org/0000-0003-2935-5131)
- Tarja Joensuu (ORCID: https://orcid.org/0000-0002-7394-2141)
- Anna‐Elina Lehesjoki (ORCID: https://orcid.org/0000-0003-4014-3113)
- Marja Äikiä
- Katri Silvennoinen (ORCID: https://orcid.org/0000-0001-8456-0029)
- Jelena Hyppönen (ORCID: https://orcid.org/0000-0003-3027-9340)
- Esa Mervaala (ORCID: https://orcid.org/0000-0001-5682-5747)
- Henri Eronen
- Janina Gunnar (ORCID: https://orcid.org/0000-0002-5996-1653)
Institutions
- University of Helsinki (FI)
- University of Eastern Finland (FI)
- Kuopio University Hospital (FI)
- Folkhälsans Forskningscentrum (FI)
- Hospital District of Helsinki and Uusimaa (FI)
Publication Details
- Journal
- Epileptic Disorders
- Published
- 2025-10-03
- DOI
- https://doi.org/10.1002/epd2.70112
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00