Journal article
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder
S Fehr, K Wong, R Chin, S Williams, N De Klerk, D Forbes, R Krishnaraj, J Christodoulou, J Downs, H Leonard
Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016
Abstract
Objective: To investigate seizure outcomes and their relationships to genotype and functional abilities in individuals with the cyclin-dependent kinase-like-5 (CDKL5) disorder. Methods: Using the International CDKL5 Disorder Database, we identified 172 cases with a pathogenic CDKL5 mutation. We categorized individual mutations into 4 groups based on predicted structural and functional consequences. Negative binomial regression was used to model the linear association between current seizure rate and mutation group, current level of assistance required to walk 10 steps, and the highest level of expressive communication used to convey refusal or request. Results: All but 3 (169/172) patients h..
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Awarded by NHMRC
Awarded by National Health and Medical Research Council of Australia
Funding Acknowledgements
The International Foundation for CDKL5 Research provided ongoing support and assistance and recent funding. This study was also supported by Dr. Fehr's Australian Postgraduate Award, University of Western Australia Safety-Net Top-Up Scholarship, University of Western Australia Completion Scholarship Stan and Jean Perron Top-Up Scholarship, and Stan and Jean Perron Award for Excellence. Data collection was also supported by NHMRC Program grant #572742 (Dr. Jenny Downs) and NHMRC Senior Research Fellowship #572568 (Dr. Helen Leonard).