Neural Regeneration Research ›› 2025, Vol. 20 ›› Issue (11): 3211-3212.doi: 10.4103/NRR.NRR-D-24-00847

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The complex role of protocadherin-19 in brain function: a focus on the oxytocin system

Sara Mazzoleni, Marta Busnelli, Silvia Bassani*   

  1. CNR Institute of Neuroscience, Vedano al Lambro, Italy (Mazzoleni S, Busnelli M, Bassani S) NeuroMi Milan Center for Neuroscience, Milan, Italy (Busnelli M, Bassani S)
  • Online:2025-11-15 Published:2025-02-23
  • Contact: Silvia Bassani, PhD, silvia.bassani@in.cnr.it.
  • Supported by:
    This work was supported by a grant from Telethon Foundation (grant No. GGP20056 to SB). The generation of Pcdh19 floxed mouse model was funded by Cariplo Foundation (grant No. 2014- 0972 to SB). Presentation at a meeting: Some of the unpublished data in Figure 1 (panel B: the immunofluorescence images and a preliminary quantification of OXT+ cells from a reduced subset of samples; panel C: dosage of OXT) were presented in a poster at the XXI Scientific Convention of Telethon Foundation; Organization: Fondazione Telethon; Place: Riva del Garda; Date: March 13–15, 2023.

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Abstract: Mutations in the protocadherin-19 (PCDH19) gene (Xq22.1) cause the X-linked syndrome known as developmental and epileptic encephalopathy 9 (DEE9, OMIM # 300088) (Dibbens et al., 2008). DEE9 is characterized by early-onset clustering epilepsy associated with intellectual disability ranging from mild to profound, autism spectrum disorder, and other neuropsychiatric features including schizophrenia, anxiety, attentiondeficit/ hyperactivity, and obsessive or aggressive behaviors. While seizures may become less frequent in adolescence, psychiatric comorbidities persist and often worsen with age (Dibbens et al., 2008; Kolc et al., 2020).