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

作　　者：Sara Mazzoleni Marta Busnelli Silvia Bassani 

机构地区：[1]CNR Institute of Neuroscience,Vedano al Lambro,Italy [2]NeuroMi Milan Center for Neuroscience,Milan,Italy

出　　处：《Neural Regeneration Research》2025年第11期3211-3212,共2页中国神经再生研究（英文版）

基　　金：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)。

摘　　要：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).

关 键 词：EPILEPSY FUNCTION SYSTEM 

分 类 号：R742.1[医药卫生—神经病学与精神病学]