Sleep disorders in Rett syndrome and Rett-related disorders: a narrative review
G Tascini, GB Dell'Isola, E Mencaroni… - Frontiers in …, 2022 - frontiersin.org
Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs
primarily in females, with a ratio of 1: 10.000. De novo mutations in the Methyl-CpG Binding …
primarily in females, with a ratio of 1: 10.000. De novo mutations in the Methyl-CpG Binding …
Electroencephalographic (EEG) biomarkers in genetic neurodevelopmental disorders
K Goodspeed, D Armstrong, A Dolce… - Journal of child …, 2023 - journals.sagepub.com
Collectively, neurodevelopmental disorders are highly prevalent, but more than a third of
neurodevelopmental disorders have an identifiable genetic etiology, each of which is …
neurodevelopmental disorders have an identifiable genetic etiology, each of which is …
Sleep quality and electroencephalogram delta power
Delta activity on electroencephalogram (EEG) is considered a biomarker of homeostatic
sleep drive. Delta power is often associated with sleep duration and intensity. Here, we …
sleep drive. Delta power is often associated with sleep duration and intensity. Here, we …
[HTML][HTML] Low-dose perampanel rescues cortical gamma dysregulation associated with parvalbumin interneuron GluA2 upregulation in epileptic Syngap1+/− mice
Background Loss-of-function SYNGAP1 mutations cause a neurodevelopmental disorder
characterized by intellectual disability and epilepsy. SYNGAP1 is a Ras GTPase-activating …
characterized by intellectual disability and epilepsy. SYNGAP1 is a Ras GTPase-activating …
Rett syndrome and CDKL5 deficiency disorder: from bench to clinic
Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked
developmental brain disorders with overlapping but distinct phenotypic features. This review …
developmental brain disorders with overlapping but distinct phenotypic features. This review …
Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2‐heterozygous mouse model of …
Rett syndrome is an X‐linked neurodevelopmental disorder caused by mutation of Mecp2
gene and primarily affects females. Glial cell dysfunction has been implicated in in Rett …
gene and primarily affects females. Glial cell dysfunction has been implicated in in Rett …
Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome
Spontaneous EEG contains important information about neuronal network properties that is
valuable for understanding different neurological and psychiatric conditions. Rett syndrome …
valuable for understanding different neurological and psychiatric conditions. Rett syndrome …
[HTML][HTML] UBE3A: The role in autism spectrum disorders (ASDs) and a potential candidate for biomarker studies and designing therapeutic strategies
B Roy, E Amemasor, S Hussain, K Castro - Diseases, 2023 - mdpi.com
Published reports from the CDC's Autism and Development Disabilities Monitoring Networks
have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to …
have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to …
Evoked potentials and EEG analysis in Rett syndrome and related developmental encephalopathies: towards a biomarker for translational research
JN Saby, SU Peters, TPL Roberts… - Frontiers in Integrative …, 2020 - frontiersin.org
Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying
treatment is available. Fortunately, advances in our understanding of the genetics and …
treatment is available. Fortunately, advances in our understanding of the genetics and …
Abnormal sleep physiology in children with 15q11. 2-13.1 duplication (Dup15q) syndrome
Background Sleep disturbances in autism spectrum disorder (ASD) represent a common
and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the …
and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the …