PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
This case expands the phenotypic spectrum associated with PPP5C variants, highlighting the potential role of this gene inneurological disorders. Our findings may provide some valuable insights into the spectrum of phenotypic manifestations linked to this gene less investigated in neuropediatrics.
Authors
- Annamaria Sapuppo (ORCID: https://orcid.org/0000-0001-9433-026X)
- Vincenzo Sortino (ORCID: https://orcid.org/0000-0002-0188-8430)
- Roberta Rocca (ORCID: https://orcid.org/0000-0001-9017-8088)
- Xena Giada Pappalardo (ORCID: https://orcid.org/0000-0002-4640-6677)
- Martino Ruggieri (ORCID: https://orcid.org/0000-0002-2658-4249)
- Raffaele Falsaperla (ORCID: https://orcid.org/0000-0002-4482-3506)
- Lidia Marino (ORCID: https://orcid.org/0000-0001-6015-3787)
- Roberta Rizzo (ORCID: https://orcid.org/0000-0001-9507-9126)
- Lucia Saccuzzo (ORCID: https://orcid.org/0009-0001-0444-1407)
- Gaia Fusto
- Marco Fichera (ORCID: https://orcid.org/0000-0002-8225-6880)
Institutions
- University of Ferrara (IT)
- University of Catania (IT)
- Oasi Maria SS (IT)
- Institute for Biomedical Research and Innovation (IT)
Publication Details
- Journal
- Molecular and Cellular Pediatrics
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1186/s40348-025-00191-3
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute