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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Detalles Bibliográficos
Autores principales: Previtali, Roberto, Leidi, Alessia, Basso, Martina, Izzo, Giana, Stignani, Cecilia, Spaccini, Luigina, Iascone, Maria, Veggiotti, Pierangelo, Bova, Stefania Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359812/
https://www.ncbi.nlm.nih.gov/pubmed/37483454
http://dx.doi.org/10.3389/fneur.2023.1181015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359812/
https://www.ncbi.nlm.nih.gov/pubmed/37483454
http://dx.doi.org/10.3389/fneur.2023.1181015

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