MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives.

ABSTRACT: Rett syndrome (RTT), an X-linked neurodevelopment disorder, occurs in approximately one out of 10,000 females. Individuals afflicted by RTT display a constellation of signs and symptoms, affecting nearly every organ system. Most striking are the neurological manifestations, including regression of language and motor skills, increased seizure activity, autonomic dysfunction, and aberrant regulation of breathing patterns. The majority of girls with RTT have mutations in the gene encoding for methyl-CpG binding protein 2 (MeCP2). Since the discovery of this genetic cause of RTT in 1999, there has been an accelerated pace of research seeking to understand the role of MeCP2 in the brain in the hope of developing a disease-modifying therapy for RTT. In this study, we review the clinical features

SUBMITTER: Cuddapah VA 

PROVIDER: S-EPMC7337177 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature