Neural Regeneration Research ›› 2022, Vol. 17 ›› Issue (4): 803-805.doi: 10.4103/1673-5374.322455

Previous Articles     Next Articles

PCDH19 interplay with GABA(A) receptors: a window to DEE9 pathogenetic mechanisms

Sara Mazzoleni, Silvia Bassani*   

  1. Institute of Neuroscience, CNR, Milan, Italy (Mazzoleni S, Bassani S) 
    Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate (MI), Italy (Mazzoleni S) 
    NeuroMI Milan Center for Neuroscience, University of Milano-Bicocca, Milan, Italy (Bassani S) 
  • Online:2022-04-15 Published:2021-10-18
  • Contact: Silvia Bassani, PhD, silvia.bassani@in.cnr.it.
  • Supported by:
    The present work was supported by Fondazione Telethon – Italy (grant No. GGP17260 to Bassani S).

Abstract: Developmental and epileptic encephalopathy 9 (DEE9): The gene PCDH19 (Xq22.1), which encodes the calcium-dependent cell adhesion protein protocadherin-19 (PCDH19), is nowadays considered as one of the most important genes in monogenic epilepsy (Depienne and LeGuern, 2012). Mutations in PCDH19 are responsible for DEE9 (OMIM #300088), a severe neurodevelopmental disorder characterized by early-onset clustering epilepsy, various degrees of cognitive impairment and neuropsychiatric comorbidities, like autism spectrum disorder (ASD) and behavioural problems. DEE9 patients start suffering from seizures around the age of 10 months until adolescence, when seizures tend to reduce or even disappear, while the psychiatric symptoms persist (Depienne and LeGuern, 2012; Kolc et al., 2018).