1. Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction
- Author
-
Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Ambra Butera, Greta Amore, Vincenzo Salpietro, Antonio Gennaro Nicotera, and Gabriella Di Rosa
- Subjects
synaptopathy ,developmental and epileptic encephalopathy (DEE) ,pre-synaptic mechanisms ,drug resistant epilepsy ,intellectual disability (ID) ,SNAREopathies ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
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.
- Published
- 2022
- Full Text
- View/download PDF