Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
نویسندگان
چکیده
منابع مشابه
Pathogenicity of C-terminal mutations in CDKL5
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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this research is about the political economy of china in central asia. in this research the political & economic interactions affected on chinas political economy in central asia are examined. chinas goal of presence in central asia including political-security, economic and energy goals is described in one part. in another part, the trade relations between china and central asian countries ar...
15 صفحه اولRecurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with Rett syndrome. With more than 80 reported patients, the phenotype of CDKL5-related encephalopathy is well-defined. The main features consist of seizures starting before 6 months of age, severe intellectual disability with...
متن کاملCDKL5 and ARX mutations in males with early-onset epilepsy.
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...
متن کاملCDKL5 variants
Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies withCDKL5 variants from new and all av...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2020
ISSN: 1824-7288
DOI: 10.1186/s13052-020-0775-y