Journal article

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

Stephanie Fehr, Meredith Wilson, Jenny Downs, Simon Williams, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Gladys Ho, Roberta Polli, Stavroula Psoni, Xinhua Bao, Nick de Klerk, Helen Leonard, John Christodoulou

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2013


Awarded by NHMRC

Awarded by Fondazione Cariplo

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).