{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T10:05:53Z","timestamp":1792404353488,"version":"4.4.0"},"reference-count":118,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T00:00:00Z","timestamp":1706054400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of speech; reduced lifespan; retarded growth; disturbance of sleep and breathing; seizures; autism; and gait apraxia. Pneumonia is the most common cause of death for patients with Rett syndrome, with a survival rate of 77.8% at 25 years of age. Survival into the fifth decade is typical in Rett syndrome, and the leading cause of death is cardiorespiratory compromise. Rett syndrome progression has multiple stages; however, most phenotypes are associated with the nervous system and brain. In total, 95% of Rett syndrome cases are due to mutations in the MECP2 gene, an X-linked gene that encodes for the methyl CpG binding protein, a regulator of gene expression. In this review, we summarize the recent developments in the field of Rett syndrome and therapeutics targeting MECP2.<\/jats:p>","DOI":"10.3390\/brainsci14020120","type":"journal-article","created":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T04:35:40Z","timestamp":1706070940000},"page":"120","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-1366-5553","authenticated-orcid":false,"given":"Adele Gaspar","family":"Lopes","sequence":"first","affiliation":[{"name":"Department of Pharmacology, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada"},{"name":"Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sampath Kumar","family":"Loganathan","sequence":"additional","affiliation":[{"name":"Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada"},{"name":"Department of Biochemistry, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H4A 3J1, Canada"},{"name":"Department of Otolaryngology, Head & Neck Surgery, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H4A 3J1, Canada"},{"name":"Departments of Experimental Surgery and Experimental Medicine, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6071-269X","authenticated-orcid":false,"given":"Jayalakshmi","family":"Caliaperumal","sequence":"additional","affiliation":[{"name":"Ingram School of Nursing, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3A 2M7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,24]]},"reference":[{"key":"ref_1","first-page":"723","article-title":"On a unusual brain atrophy syndrome in hyperammonemia in childhood","volume":"116","author":"Rett","year":"1966","journal-title":"Wien. 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