Key clinical features to identify girls with CDKL5 mutations
نویسندگان
چکیده
منابع مشابه
Key clinical features to identify girls with CDKL5 mutations.
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of CDKL5-associated encephalopathy. We screened the entire coding re...
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It was with great interest that we read the report by Martínez et al. [1] entitled “CDKL5 in different atypical Rett syndrome variants: Description of the first eight patients from Spain”, and in particular of a late C-terminal missense mutation in CDKL5. The mutation described, p.Pro976Leu (c.2927C>T) was identified in a female patient with Rett syndrome (RTT) with regression of late onset. Th...
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Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absen...
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BACKGROUND The 10 warning signs of primary immunodeficiency diseases (PID) have been promoted by various organizations in Europe and the United States to predict PID. However, the ability of these warning signs to identify children with PID has not been rigorously tested. OBJECTIVE The main goal of this study was to determine the effectiveness of these 10 warning signs in predicting defined P...
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ژورنال
عنوان ژورنال: Brain
سال: 2008
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awn197