Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study
نویسندگان
چکیده
منابع مشابه
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study
Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory d...
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Rett syndrome (RTT) is a severe neurodevelopmental disorder and is the second most common form of severe mental retardation in females. RTT affects 1 in 8,000 births by the age of 15 and does not discriminate between racial or ethnic groups. It is a devastating condition characterised by progressive loss of speech and movement and the development of intellectual disability at a very young age. ...
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Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. In association with the Dutch RTT parent association, a 5-year longitudinal study was carried out. The study population consisted...
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Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS throu...
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Rett syndrome, a neurodevelopmental disorder that is a leading cause of mental retardation in females, is caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). MECP2 mutations have subsequently been identified in patients with a variety of clinical syndromes ranging from mild learning disability in females to severe mental retardation, seizures, ataxia, and som...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2016
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.37812