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• W3176894908 endingPage "982" @default.
• W3176894908 startingPage "982" @default.
• W3176894908 abstract "Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of MWS. First, we will describe the role of ZEB2 in the formation and development of the nervous system by reviewing the preclinical studies in this regard. ZEB2 regulates the neural crest cell differentiation and migration, as well as in the modulation of GABAergic transmission. This leads to different degrees of structural and functional impairment that have been explored and deepened by various authors over the years. Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and peripheral nervous system involvement, as well as developmental, cognitive, and behavioral features) will be faced one at a time and extensively examined from both a clinical and etiopathogenetic point of view, linking them to the ZEB2 related pathways." @default.
• W3176894908 created "2021-07-05" @default.
• W3176894908 creator A5010719182 @default.
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• W3176894908 creator A5036096861 @default.
• W3176894908 creator A5060769023 @default.
• W3176894908 creator A5076533216 @default.
• W3176894908 date "2021-06-27" @default.
• W3176894908 modified "2023-10-18" @default.
• W3176894908 title "Neurological Phenotype of Mowat-Wilson Syndrome" @default.
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• W3176894908 doi "https://doi.org/10.3390/genes12070982" @default.

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