ArticleBrain and behavior2019
Epilepsy and genetic in Rett syndrome: A review.
Article in Brain and behavior, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 89 citations in OpenAlex.
- Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.Journal of genetics · 2020Trial
- Understanding Caregivers' Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments.Neurology and therapy · 2026Article
- Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome.BMC medical education · 2026Article
- Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Genes · 2026Article
- Post-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS).Frontiers in pharmacology · 2026Article
- Reduction in Seizure Generalization Associated With Long-Term Low-Dose Immunomodulatory Therapy Using Prednisolone and Methotrexate in Rett Syndrome: A Case Report.Case reports in pediatrics · 2026Article
- Review
- Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications.Molecular biology reports · 2025Review
- Women With Genetic Epilepsies.Neurology. Genetics · 2025Review
- Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures.Journal of neurodevelopmental disorders · 2025Article
- Prevalence, severity, frequency and healthcare resource use of epilepsy among individuals with Rett Syndrome: analysis of data from a Rett Center of Excellence.Frontiers in neurology · 2025Article
- Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives.Orphanet journal of rare diseases · 2024Article
- Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database.Journal of neurodevelopmental disorders · 2024Article
- Epigenetic control of adaptive or homeostatic splicing during interval-training activities.Nucleic acids research · 2024Article
- Resting state EEG in young children with Tuberous Sclerosis Complex.Research square · 2024Article
- Calcium-Dependent Hyperexcitability in Human Stem Cell-Derived Rett Syndrome Neuronal Networks.Biological psychiatry global open science · 2024Article
- Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome.Epilepsia open · 2024Observational
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
- Trofinetide in Rett syndrome: A brief review of safety and efficacy.Intractable & rare diseases research · 2023Article
- Rett-like Phenotypes inGenes · 2023Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000-20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6-12 months) followed by a rapid decline with regression of acquired motor skills, loss of spoken language and purposeful hand use, onset of hand stereotypes, abnormal gait, and growth failure. The course of the disease, in its classical form, is characterized by four stages. Three different atypical variants of the disease have been defined. Epilepsy has been reported in 60%-80% of patients with RTT; it differs among the various phenotypes and genotypes and its severity is an important contributor to the clinical severity of the disease.
methodsIn this manuscript we reviewed literature on RTT, focusing on the different genetic entities, the correlation genotype-phenotype, and the peculiar epileptic phenotype associated to each of them.
resultsMutations in MECP2 gene, located on Xq28, account for 95% of typical RTT cases and 73.2% of atypical RTT. CDKL5 and FOXG1 are other genes identified as causative genes in atypical forms of RTT. In the last few years, a lot of new genes have been identified as causative genes for RTT phenotype.
conclusionsRecognizing clinical and EEG patterns in different RTT variants may be useful in diagnosis and management of these patients.
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