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Tangarorang J, Leonard H, Epstein A, Downs J. A framework for understanding quality of life domains in individuals with the CDKL5 Deficiency Disorder. Am J Med Genet A. Forthcoming 2018.

Lim Z, Wong K, Downs J, Beggington K, Demarest S, Leonard H. Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder. Epilepsy Res. 2018;146:36-40.

Mori Y, Downs J, Wong K, Heyworth J, Leonard H. Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability. J Autism Dev Disord. 2017;48(5)1651-65.

Hector RD, Kalscheuer V, Hennig F, Leonard H, Downs J, Clarke A, Benke T, Armstrong J, Pineda MM, Bailey MES, Cobb SR. CDKL5 variants: improving our understanding of a rare neurological disorder. Neurology: Genetics. 2017;3(6).

Lim Z, Wong K, Olson HE, Bergin AM, Downs J, Leonard, H. Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. Epilepsia. 2017;58(8):1415-1422.

Mori Y, Downs J, Wong K, Anderson B, Epstein A, Leonard H. Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life. Orphanet J Rare Dis. 2017;12(1):16.

Mangatt M, Wong K, Anderson B, Epstein A, Hodgetts S, Leonard H, Downs J. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis. 2016;11(39):39.

Fehr S, Wong K, Chin R, Williams S, de klerk N, Forbes D, Krishnaraj R, Christodoulou J, Downs J, Leonard H. Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology. 2016;87(21):2206-13.

Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, Williams S, Leonard H. Functional abilities in children and adults with the CDKL5 disorder. Am J Med Genet A. 2016;170(11):2860-9.

Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J. There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 2015;7(1):2.

Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013;21(3):266-73. Epub 2012/08/09.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004;75(6):1079-93.


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