The X-linked gene encoding MECP2 is involved in two severe and complex
neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett …

Background Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases
occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl …

With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20
years since the first report on the link between Rett syndrome and MECP2 mutations, it is …

Drug studies on Rett syndrome (RTT) have drastically increased over the past few decades.
This review aims to provide master data on bench-to-bedside drug studies involving RTT. A …

The sigma-1 receptor is a 223 amino acid-long protein with a recently identified structure.
The sigma-2 receptor is a genetically unrelated protein with a similarly shaped binding …

N-methyl-D-aspartate receptors (NMDARs) are widely distributed in the central nervous
system (CNS) and play critical roles in neuronal excitability in the CNS. Both clinical and …

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects
females, resulting in severe cognitive and physical disabilities, and is one of the most …

Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal-dominant inherited disorder
caused by CTG microsatellite repeat expansions (MREs) in the 3′ untranslated region of …

Over the last decade, sigma-1 receptor (Sig1R) has been recognized as a valid target for the
treatment of seizure disorders and seizure-related comorbidities. Clinical trials with Sig1R …

Collectively, neurodevelopmental disorders are highly prevalent, but more than a third of
neurodevelopmental disorders have an identifiable genetic etiology, each of which is …