Spoto Giulia, Valentini Giulia, Saia Maria Concetta, Butera Ambra, Amore Greta, Salpietro Vincenzo, Nicotera Antonio Gennaro, Di Rosa Gabriella
Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, Messina, Italy.
Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, United Kingdom.
Front Neurol. 2022 Mar 8;13:826211. doi: 10.3389/fneur.2022.826211. eCollection 2022.
The proper connection between the pre- and post-synaptic nervous cells depends on any element constituting the synapse: the pre- and post-synaptic membranes, the synaptic cleft, and the surrounding glial cells and extracellular matrix. An alteration of the mechanisms regulating the physiological synergy among these synaptic components is defined as "synaptopathy." Mutations in the genes encoding for proteins involved in neuronal transmission are associated with several neuropsychiatric disorders, but only some of them are associated with Developmental and Epileptic Encephalopathies (DEEs). These conditions include a heterogeneous group of epilepsy syndromes associated with cognitive disturbances/intellectual disability, autistic features, and movement disorders. This review aims to elucidate the pathogenesis of these conditions, focusing on mechanisms affecting the neuronal pre-synaptic terminal and its role in the onset of DEEs, including potential therapeutic approaches.
突触前膜和突触后膜、突触间隙以及周围的神经胶质细胞和细胞外基质。调节这些突触成分之间生理协同作用的机制发生改变被定义为“突触病变”。编码参与神经元传递的蛋白质的基因突变与多种神经精神疾病相关，但其中只有一些与发育性和癫痫性脑病（DEE）相关。这些病症包括一组异质性的癫痫综合征，与认知障碍/智力残疾、自闭症特征和运动障碍有关。本综述旨在阐明这些病症的发病机制，重点关注影响神经元突触前终末的机制及其在DEE发病中的作用，包括潜在的治疗方法。
