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  2. Timothy Benke, MD, PhD

Professor, Pediatrics-Neurology
Director of Research-Neurosciences Institute
The Ponzio Family Chair in Pediatric Neurology Research

Children’s Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
contact address
https://www.cudoctors.com/Find_A_Doctor/Profile/8952

Biosketch:

Dr. Benke is the Research Director of the Neuroscience Institute that studies the mechanisms of early-life seizures to cause intellectual challenges and the role of CDKL5 on synaptic function. He initiated the multi-disciplinary Rett Clinic in 2011 at CHCO, where I am the Medical Director. This clinic is supported by NIH, the Rocky Mountain Rett Association (RMRA) and recognized and supported as an International Foundation for CDKL5 Research (IFCR) and RettSyndrome.org (RSO) Center of Excellence (COE).

He also leads the IFCR COE CDKL5 natural history initiative, is the site Primary Investigator for the NIH funded Natural History Study of Rett, CDKL5, and FOXG1, and participates in clinical trials in RTT and CDKL5. One of his research goals is to understand the natural history of CDKL5 Deficiency Disorder, find better treatments and, eventually, cures for this and other developmental encephalopathies.

Declared conflicts of interest on file (09/21/2022)

Selected Bibliography:

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.
Severity Assessment in CDKL5 Deficiency Disorder.
Pediatr Neurol. 2019;97:38-42. PubMed abstract / Full Text

Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK.
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Am J Med Genet B Neuropsychiatr Genet. 2019;180(1):55-67. PubMed abstract / Full Text

Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Clin Genet. 2019;95(5):575-581. PubMed abstract / Full Text

Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR.
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Neurol Genet. 2017;3(6):e200. PubMed abstract / Full Text

Benke TA, Kind PC.
Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder.
Brain. 2020;143(3):716-718. PubMed abstract / Full Text