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dc.contributor.authorFehr, Stephanie
dc.contributor.authorWilson, Meredith
dc.contributor.authorDowns, Jennepher
dc.contributor.authorWilliams, Simon
dc.contributor.authorMurgia, Alessandra
dc.contributor.authorSartori, Stefano
dc.contributor.authorVecchi, Marilena
dc.contributor.authorHo, Gladys
dc.contributor.authorPolli, Roberta
dc.contributor.authorPsoni, Stavroula
dc.contributor.authorBao, Xinhua
dc.contributor.authorde Klerk, Nick
dc.contributor.authorLeonard, Helen
dc.contributor.authorChristodoulou, John
dc.identifier.citationFehr, 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.

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.

dc.publisherNature Publishing Group
dc.titleThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
dc.typeJournal Article
dcterms.source.titleEuropean Journal of Human genetics
curtin.accessStatusOpen access

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