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    The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

    11770.pdf (589.3Kb)
    Access Status
    Open access
    Authors
    Fehr, Stephanie
    Wilson, Meredith
    Downs, Jennepher
    Williams, Simon
    Murgia, Alessandra
    Sartori, Stefano
    Vecchi, Marilena
    Ho, Gladys
    Polli, Roberta
    Psoni, Stavroula
    Bao, Xinhua
    de Klerk, Nick
    Leonard, Helen
    Christodoulou, John
    Date
    2012
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Fehr, Stephanie and Wilson, Meredith and Downs, Jenny and Williams, Simon and Murgia, Alessandra and Sartori, Stefano and Vecchi, Marilena et al. 2012. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics. 21: pp. 266-273.
    Source Title
    European Journal of Human genetics
    DOI
    10.1038/ejhg.2012.156
    ISSN
    1018-4813
    URI
    http://hdl.handle.net/20.500.11937/11790
    Collection
    • Curtin Research Publications
    Abstract

    The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant.

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    • The CDKL5 disorder is an independent clinical entity associated with early-onset encephalophy
      Fehr, S.; Wilson, M.; Downs, Jennepher; Williams, S.; Murgia, A.; Sartori, S.; Vecchi, M.; Ho, G.; Polli, R.; Psoni, S.; Bao, X.; Klerk, N.; Leonard, H.; Christodoulou, J. (2013)
      The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe ...
    • Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
      Mangatt, M.; Wong, K.; Anderson, B.; Epstein, A.; Hodgetts, S.; Leonard, H.; Downs, Jennepher (2016)
      Background: Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities ...
    • Ketogenic diet to manage refractory epilepsy in the cdkl5 disorder
      Lim, Z.; Downs, Jennepher; Wong, K.; Leonard, H. (2017)
      Objectives: Mutations involving the CDKL5 gene have been identified as a cause of severe epileptic encephalopathy, often later presenting with features similar to Rett syndrome.1 Cardinal features of epilepsy in the CDKL5 ...
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