Repeat Expansions with Small <scp>TTTCA</scp> Insertions in <scp><i>MARCHF6</i></scp> Cause Familial Myoclonus without Epilepsy
These findings indicate that as little as five TTTCA repeats combined with expanded TTTTA repeats can cause cortical myoclonus without epilepsy, highlighting the potential mechanisms underlying FAME pathophysiology. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Iris Unterberger (ORCID: https://orcid.org/0000-0001-6408-5777)
- Elsa Leitão (ORCID: https://orcid.org/0000-0001-5051-9714)
- Sabine Kaya
- Christel Depienne (ORCID: https://orcid.org/0000-0002-7212-9554)
- Kelly Astudillo (ORCID: https://orcid.org/0000-0002-5697-0968)
- M. Simonetta‐Moreau (ORCID: https://orcid.org/0000-0002-2278-0410)
- Theresa Kühnel (ORCID: https://orcid.org/0000-0003-0629-3521)
- Claudia Del Gamba (ORCID: https://orcid.org/0000-0003-3408-7426)
- Giulietta Riboldi (ORCID: https://orcid.org/0000-0003-0322-5718)
- Fabian Kilpert (ORCID: https://orcid.org/0000-0001-6401-2180)
- S.J. Frucht
- Éric Bieth (ORCID: https://orcid.org/0000-0003-3126-5493)
- Renate Lunzer
Institutions
- Université Toulouse III - Paul Sabatier (FR)
- Innsbruck Medical University (AT)
- Inserm (FR)
- Université Fédérale de Toulouse Midi-Pyrénées (FR)
- Centre Hospitalier Universitaire de Toulouse (FR)
- Azienda Usl Toscana Centro (IT)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-04-09
- DOI
- https://doi.org/10.1002/mds.30192
- Citations
- 1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 1.67
Funders
- U.S. Department of Defense
- Parkinson's Foundation
- Deutsche Forschungsgemeinschaft
- Ipsen
- National Institutes of Health