Journal article
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
S Fehr, M Wilson, J Downs, S Williams, A Murgia, S Sartori, M Vecchi, G Ho, R Polli, S Psoni, X Bao, N De Klerk, H Leonard, J Christodoulou
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2013
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 we..
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Awarded by University of Western Australia
Funding Acknowledgements
We thank all the families and clinicians who have contributed to the International Rett Syndrome Phenotype Database (InterRett) by completing questionnaires. We acknowledge the International Rett Syndrome Foundation (IRSF previously IRSA) for their ongoing support of the Inter Rett project and the International Foundation for CDKL5 Research for their support of this study and all the families, especially Leita Boltwood, who have actively worked in promoting this study. The InterRett project receives funding from the International Rett Syndrome Foundation (IRSF previously IRSA). Dr Helen Leonard is funded from an NHMRC Senior Research Fellowship no. 572568 and Stephanie Fehr receives funding from the University of Western Australia as part of her Australian Postgraduate Award and Safety-Net Top-Up Scholarship. This research was also part funded by NHMRC Project Grant no. 570752 and Dr Murgia, Dr Sartori and Dr Polli received funding from Fondazione Cariplo (Grant 2010-0724).