Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients
نویسندگان
چکیده
منابع مشابه
Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.
1MD, Faculdade Evangélica do Paraná, Curitiba PR, Brazil; 2MD, Medical Genetic Service, Hospital de Clínicas de Porto Alegre RS, Brazil; 3MD, PhD, Neurophysiologist, Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba PR, Brazil; 4MD, PhD, Medical Genetic Service, Hospital de Clínicas de Porto Alegre RS, Brazil; 5MD, PhD, Group for Ad...
متن کاملCDKL5 mutations in early epileptic encephalopathy and in atypical forms of Rett syndrome
Rett syndrome (RTT, MIM #312750) is a neurodevelopmental disorder defined by a distinct set of clinical features, notably a regression that robs the affected individuals of spoken language and volitional hand use [1]. Additionally, affected people develop characteristic hand stereotypies that are classically wringing or washing in nature, although they make take on a variety of forms such as cl...
متن کاملNovel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy (CDKL5 / cyclin-dependent kinase-like 5 protein / early-onset epileptic encephalopathy / early-onset seizure variant of Rett syndrome)
The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental d...
متن کاملRespiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
AIM In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations. METHOD In four genetically conf...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2013
ISSN: 0004-282X
DOI: 10.1590/0004-282x20130050