About 80% of brain disorders have a genetic basis. The pathogenesis of most
neurodegenerative diseases is associated with a myriad of genetic defects, epigenetic …

An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

MECP2 deficiency causes a broad spectrum of neuropsychiatric disorders that can affect
both genders. Rett syndrome is the most common and is characterized by an apparently …

Early life stress, including maternal separation, is among one of the main causes of anxiety
in adolescents. DNA methyltransferase 3A (Dnmt3a) is a key molecule that regulates DNA …

We present a male patient carrying a pathogenic MECP2 p. Arg179Trp variant with
predominant negative psychiatric features and multilevel evidence of mitochondrial …

Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by
mutations in the methyl-CpG-binding protein 2 gene (MECP2). MeCP2 is a multi-functional …

Rett syndrome (RTT) is a severe neurodevelopmental disorder that constitutes the second
most common cause of intellectual disability in females worldwide. In the past few years, the …

Aberrant mitochondrial phenotypes are common to many central nervous system (CNS)
disorders, including neurodegenerative and neurodevelopmental diseases. Mitochondrial …

Transposable elements (TEs) are mobile genetic elements that constitute on average 45%
of mammalian genomes. Their presence and activity in genomes represent a major source …

Mutations in the X-linked methyl-CpG-binding 2 (MECP2) gene lead to Rett Syndrome (RTT;
OMIM 312750), a devasting neurodevelopmental disorder. RTT clinical manifestations are …