Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects
predominantly females. In most cases, RTT is associated with pathogenic variants in …

Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …

In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

Rare diseases are very difficult to study mechanistically and to develop therapies for
because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …

Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females
resulting in severe cognitive and physical disabilities. Despite the commendable collective …

Background Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex
medical comorbidities extending beyond the nervous system requiring the attention of health …

Abstract Purpose Survival in Rett syndrome remains unclear. Although early estimates were
grim, more recent data suggest that survival into adulthood is typical. We aimed to define …

Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations
in the MECP2 gene, and in Rett-related disorders, such as MECP2 duplication. However …

Background Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder
with multisystem comorbidities that evolve across a patient's lifespan requiring attentive …

The Rett Syndrome Behaviour Questionnaire (RSBQ), which is completed by the caregiver,
is one of the most widely used efficacy measures in clinical studies of Rett syndrome (RTT) …