Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.
نویسندگان
چکیده
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 Advanced Molecular Investigation (NIMA), Graduate Program in Health Science (PPGCS), Health and Biosciences School (ESB), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba PR, Brazil. Correspondence: Érica Leitão Ermel; Rua Weyner Junior Maciel Alves 320 / Condomínio Royal Golf; 86055-500 Londrina PR Brasil; E-mail: [email protected] Conflict of interest: There is no conflict of interest to declare. Received 20 March 2012; Received in final form 01 February 2013; Accepted 08 February 2013.
منابع مشابه
Novel 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...
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Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found in up to 95% of classical RTT cases and a lesser proportion of atypical cases. Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent...
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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...
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Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we describe the physiological, molecular, and behavioral phenotyping of a Cdkl5 conditional knockout mouse model of CDKL5 disorder. Behavioral analysis of constitutive Cdkl5 knockout mice revealed key features of the human disorde...
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Mutations in the X-linked CDKL5 (cyclin-dependent kinase-like 5) gene have been associated with several forms of neurodevelopmental disorders, including atypical Rett syndrome, autism spectrum disorders, and early infantile epileptic encephalopathy. Accordingly, loss of CDKL5 in mice results in autistic-like features and impaired neuronal communication. Although the biological functions of CDKL...
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عنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 71 6 شماره
صفحات -
تاریخ انتشار 2013