Angelman syndrome (AS) is a neurogenetic disorder due to deficient expression of the maternal copy of the UBE3A gene, which encodes ubiquitin ligase E3A protein. Severe developmental delay, seizures and other neurological disorders characterize AS.
Therapeutic approach to neurological manifestations of Angelman syndrome
Ascoli, Michele;Gasparini, Sara;Mastroianni, Giovanni;Cianci, Vittoria;Neri, Sabrina;Pascarella, Angelo;Santangelo, Domenico;Aguglia, Umberto;Ferlazzo, Edoardo
2022-01-01
Abstract
Angelman syndrome (AS) is a neurogenetic disorder due to deficient expression of the maternal copy of the UBE3A gene, which encodes ubiquitin ligase E3A protein. Severe developmental delay, seizures and other neurological disorders characterize AS.File in questo prodotto:
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