Skip to content

Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J and Leonard H. Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder. Eur J Hum Genet. 2022.

Downs, J., Jacoby, P., Saldaris, J., Leonard, H., Benke, T., Marsh, E., & Demarest, S. Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder. Journal of Sleep Research. 2022;e13600.

Saldaris J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest S, Downs J. Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand). Journal of Child Neurology. 2022;37(6):541-547.

Saldaris J, Weisenberg J, Pestana-Knight E, Marsh ED, Suter B, Rajaraman R, Heidary G, Olson HE, Devinsky O, Price D, Jacoby P, Leonard H, Benke TA, Demarest S, Downs J. Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. J Child Neurol. 2021 Oct;36(11):998-1006.

Dale T, Downs J, Wong K, Leonard H. The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder. Epilepsy Behav. 2021 Sep;122:108152.

Leonard H, Junaid M, Wong K, Aimetti AA, Pestana Knight E, Downs J. Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder. Epilepsia. 2021 Nov 27. In press.

Leonard H, Junaid M, Wong K, Demarest S, Downs J. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder. Epilepsy Res. 2021 Jan;169:106521.

MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Clin Genet. 2021 Jan;99(1):157-165.

MacKay CI, Bick D, Prokop JW, Muñoz I, Rouse J, Downs J, Leonard H. Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory? Am J Med Genet A. 2020 May;182(5):1217-1222.

Demarest S, Knight EP, Olson H, Downs J, Marsh E, Kaufmann W, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame K, Cross H, Chin R, Parikh S, Panzer A, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul J, Percy A, Benke TA. Severity Assessment in CDKL5 Deficiency Disorder. Pediatric Neurology. 2019;97:38-42.

Olson, HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lai D, Leonard H, Cross JH, Devinsky O, Benke TA. Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review. Pediatric Neurology. 2019;97:18-25.

Dale T, Downs J, Olson H, Bergin AM, Smith S, Leonard H. Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder. Epilepsy Res. 2019;151:31-39.

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. 2019;179:249-56.

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.


CDKL5 on Ch7 news

Telethon Kids Institute