Research & Publications

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.

Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A.J Neurodev Disord. 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z.PMID: 34530725

Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement.

Brock D, Fidell A, Thomas J, Juarez-Colunga E, Benke TA, Demarest S.J Child Neurol. 2021 Oct;36(11):974-980. doi: 10.1177/08830738211019284.PMID: 34547934

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder.

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.J Child Neurol. 2021 Oct;36(11):998-1006. doi: 10.1177/08830738211019576. Epub 2021 Aug 11.PMID: 34378447

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G.Dev Med Child Neurol. 2021 Nov;63(11):1308-1315. doi: 10.1111/dmcn.14908. Epub 2021 May 24.PMID: 34028805

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international d

MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H.Clin Genet. 2021 Jan;99(1):157-165. doi: 10.1111/cge.13862. Epub 2020 Oct 20.PMID: 33047306

Severity Assessment in CDKL5 Deficiency Disorder.

Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA.Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27.PMID: 31147226

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and

Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, Swanson LC, Riley KD, Bazin GA, Angione K, Niestroj LM, Lal D, Juarez-Colunga E, Benke TA.Epilepsia. 2019 Aug;60(8):1733-1742. doi: 10.1111/epi.16285. Epub 2019 Jul 16.PMID: 31313283

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA.Pediatr Neurol. 2019 Aug;97:18-25. doi: 10.1016/j.pediatrneurol.2019.02.015. Epub 2019 Feb 23.PMID: 30928302

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR.Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec.PMID: 29264392