Neuronal impairment and treatment prospects in Smith Magenis syndrome: Findings from patient-specific neuronal model
Ritu Nayak, Utkarsh Tripathi, Idan Rosh, Shani Stern · FENS Forum 2024
Smith Magenis syndrome (SMS) is a rare neurodevelopmental disorder resulting from a microdeletion on chromosomal region 17p11.2, which includes the Retinoic acid-induced 1 (RAI1) gene. Individuals with SMS exhibit a spectrum of psychiatric and neurological manifestations, such as developmental delays, behavioral disturbances, an intellectual disability (ID), and a circadian disorder. Additionally, they may present symptoms typical of Parkinsonism. Despite the availability of rodent models for SMS, the lack of cellular models and potential treatments has limited an in-depth study. In this resea
ePoster · Neuroscience