Cognitive and behavioural comorbidities are often seen in children with epilepsy, and are
more common and severe in refractory epilepsy. These comorbidities are associated with …

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) …

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

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 …

Objective Rett syndrome (RTT), commonly caused by methyl‐CpG‐binding protein 2
(MECP2) pathogenic variants, has many comorbidities. Fifty to ninety percent of children …

Objective Rett syndrome, CDKL5‐deficiency disorder, FOXG1 disorder, and MECP2
duplication disorder are developmental encephalopathies with shared and distinct features …

Introduction: Progress in the clinical application of next-generation-sequencing-based
techniques has resulted in a dramatic increase in the recognized genetic heterogeneity of …

This is the second of three papers that summarize the second symposium on Transition in
Epilepsies held in Paris in June 2016. This paper addresses the outcome for some …

Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily
affects females, typically resulting in a period of developmental regression in early childhood …

Abstract Background Rett Syndrome is a neurodevelopmental disorder almost exclusively
affecting females, characterized by a broad clinical spectrum of signs and symptoms and a …