Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unreported cases with de novo pathogenic variants in P...

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Bibliographic Details
Main Authors: Roberto Previtali, Alessia Leidi, Martina Basso, Giana Izzo, Cecilia Stignani, Luigina Spaccini, Maria Iascone, Pierangelo Veggiotti, Stefania Maria Bova
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Neurology
Subjects:
PHACTR1
parkinsonism
movement disorder
epilepsy
developmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1181015/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1181015/full

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