PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

Abstract Background Emerging evidence suggesting a possible link between the PPP5C gene (protein phosphatase 5 catalytic subunit; OMIM#600658) and developmental and epileptic encephalopathy (DEE, OMIM#308350), although the clinical significance of pathogenic variants in this gene remains unclear. PP...

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Main Authors: Raffaele Falsaperla, Annamaria Sapuppo, Xena Giada Pappalardo, Roberta Rizzo, Roberta Rocca, Gaia Fusto, Silvia Marino, Vincenzo Sortino, Lucia Saccuzzo, Martino Ruggieri, Marco Fichera
Format: Article
Language:English
Published: SpringerOpen 2025-04-01
Series:Molecular and Cellular Pediatrics
Subjects:
PPP5C (protein phosphatase 5 catalytic subunit)
Developmental disorders
Status epilepticus
Developmental and epileptic encephalopathy (DEE)
Online Access:https://doi.org/10.1186/s40348-025-00191-3
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