Current Status of Developmental Encephalopathies: Rett Syndrome, MECP2 Duplication Disorder, CDKL5 Deficiency Disorder, and FOXG1 Disorder
نویسندگان
چکیده
منابع مشابه
Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6-18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms are individually highly different. A single mutation in one gene, coding for methyl-CpG-binding p...
متن کاملPrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
BACKGROUND Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this dis...
متن کاملRett syndrome and long-term disorder profile.
In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so-called disorder profiles. Some examples of disorder profiles of different recurrent MECP2 mutations are discussed. RTT females with the frequently recurrent R133...
متن کاملDevelopmental coordination disorder: Current issues.
The concept of a specific disorder of motor function has been recognized for at least a century, with a gradual increase in awareness of this condition among health professionals and researchers developing over the past 30 years or so. First recognized in DSM-III-R (American Psychiatric Association 1987) as clumsy child syndrome, a number of labels have been applied to the disorder, including d...
متن کاملRett syndrome: a prototypical neurodevelopmental disorder.
Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. G...
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ژورنال
عنوان ژورنال: Translational science of rare diseases
سال: 2023
ISSN: ['2214-6512', '2214-6490']
DOI: https://doi.org/10.3233/trd-220055