• <em>MECP2</em> Mutations in the Rett Syndrome Patients from South India
• <em>WDR45</em>, one gene associated with multiple neurodevelopmental disorders
• A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels
• A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
• A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways
• A review of ultrasonic vocalizations in mice and how they relate to human speech
• Aberrant astrocyte protein secretion contributes to altered neuronal development in multiple models of neurodevelopmental disorders
• Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
• Altered Purinergic Signaling in Neurodevelopmental Disorders: Focus on P2 Receptors
• An assessment of crucial structural contributors of HDAC6 inhibitors through fragment-based non-linear pattern recognition and molecular dynamics simulation approaches
• Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
• Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review
• CDKL5 Deficiency Augments Inhibitory Input into the Dentate Gyrus That Can Be Reversed by Deep Brain Stimulation
• CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype
• Complete loss of the X-linked gene <em>CASK</em> causes severe cerebellar degeneration
• Comprehensive Transcriptomic Investigation of Rett Syndrome Reveals Increasing Complexity Trends from Induced Pluripotent Stem Cells to Neurons with Implications for Enriched Pathways
• Concise Overview of Glypromate Neuropeptide Research: From Chemistry to Pharmacological Applications in Neurosciences
• Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome
• Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology
• Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology
• Discovery of Small Molecule KCC2 Potentiators Which Attenuate <em>In Vitro</em> Seizure-Like Activity in Cultured Neurons
• Discovery of Small Molecule KCC2 Potentiators Which Attenuate In Vitro Seizure-Like Activity in Cultured Neurons
• Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders
• Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?
• Early life stress exacerbates behavioural and neuronal alterations in adolescent male mice lacking methyl-CpG binding protein 2 (Mecp2)
• Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a <em>SMC1A</em> gene mutation
• Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation
• Effect of Positive Allosteric Modulation and Orthosteric Agonism of Dopamine D2-like Receptors on Respiration in Mouse Models of Rett Syndrome
• Epilepsy Research Now in 3D: Harnessing the Power of Brain Organoids in Epilepsy
• Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
• Experimental assessment of seizure-like behaviors in a girl with Rett syndrome
• Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset
• Exploring the role of the Kölliker-Fuse nucleus in breathing variability by mathematical modelling
• Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia
• Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
• Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome
• Identification and characterization of conserved noncoding <em>cis</em>-regulatory elements that impact <em>Mecp2</em> expression and neurological functions
• Identification of a <em>de novo</em> mutation of the <em>FOXG1</em> gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies
• Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
• Identification of neural oscillations and epileptiform changes in human brain organoids
• Induction of core symptoms of autism spectrum disorder by in vivo CRISPR/Cas9-based gene editing in the brain of adolescent rhesus monkeys
• International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
• Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials
• Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis
• Making sense of mRNA landscapes: Translation control in neurodevelopment
• MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice
• MECP2 Mutations in the Rett Syndrome Patients from South India
• MeCP2-induced heterochromatin organization is driven by oligomerization-based liquid-liquid phase separation and restricted by DNA methylation
• MECP2-related disorders while gene-based therapies are on the horizon
• Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome
• Melatonin in Neurodevelopmental Disorders: A Critical Literature Review
• microRNA-382 as a tumor suppressor? Roles in tumorigenesis and clinical significance
• Mirtazapine treatment in a young female mouse model of Rett syndrome identifies time windows for the rescue of early phenotypes
• Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome
• Morphological and behavioral analysis of Slc35f1-deficient mice revealed no neurodevelopmental phenotype
• Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome
• Multidimensional Analysis of a Social Behavior Identifies Regression and Phenotypic Heterogeneity in a Female Mouse Model for Rett Syndrome
• Natural Course of <em>IQSEC2</em>-Related Encephalopathy: An Italian National Structured Survey
• Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder
• Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand
• Neuronal non-CG methylation is an essential target for MeCP2 function
• Neurotrophins and Their Receptors: BDNF's Role in GABAergic Neurodevelopment and Disease
• Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate
• Norwegian population-based study of effectiveness of vagus nerve stimulation in patients with developmental and epileptic encephalopathies
• Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review
• Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the <em>STXBP1</em>
• Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the STXBP1
• Pharmacological intervention in young adolescents rescues synaptic physiology and behavioural deficits in Syngap1^+/- mice
• Photodynamic therapy for intergluteal warts in a child affected by Rett syndrome
• Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model
• Programmable RNA writing with trans-splicing
• Purkinje-cell-specific MeCP2 deficiency leads to motor deficits and autistic-like behavior due to aberrations in PTP1B-TrkB-SK signaling
• Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods
• Region-Specific KCC2 Rescue by rhIGF-1 and Oxytocin in a Mouse Model of Rett Syndrome
• Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms
• Retroelement-derived RNA and its role in the brain
• Rett and Rett-related disorders: Common mechanisms for shared symptoms?
• Rett Syndrome
• Rett Syndrome
• Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review
• Rett-like Phenotypes in <em>HNRNPH2</em>-Related Neurodevelopmental Disorder
• Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder
• Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease
• Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome
• Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
• Substantial acetylcholine reduction in multiple brain regions of Mecp2-deficient female rats and associated behavioral abnormalities
• Targeted RNA editing in brainstem alleviates respiratory dysfunction in a mouse model of Rett syndrome
• TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum
• Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders
• The constitutive activation of TLR4-IRAK1- NFkappaB axis is involved in the early NLRP3 inflammasome response in peripheral blood mononuclear cells of Rett syndrome patients
• The constitutive activation of TLR4-IRAK1- NFκB axis is involved in the early NLRP3 inflammasome response in peripheral blood mononuclear cells of Rett syndrome patients
• The role of a virtual avatar in attention and memory tasks in Rett syndrome
• The role of Kölliker-Fuse nucleus in breathing variability
• Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
• Trofinetide in Rett syndrome: A brief review of safety and efficacy
• Trofinetide: a pioneering treatment for Rett syndrome
• Trofinetide: First Approval
• Use of perampanel in children with refractory epilepsy of genetic aetiology
• Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline
• Vitamin D modulates cortical transcriptome and behavioral phenotypes in an Mecp2 heterozygous Rett syndrome mouse model