Timothy Benke, MD, PhD

Professional Titles

• Director of Research-Neurosciences Institute
• The Ponzio Family Chair in Pediatric Neurology Research

Research Interests

Publications

• Meredith FL, Benke TA, Rennie KJ. Hyperpolarization-activated current (I(h)) in vestibular calyx terminals: characterization and role in shaping postsynaptic events. J Assoc Res Otolaryngol. 2012 Dec;13(6):745-58. PubMed PMID: 22825486
• Boada R, Hutaff-Lee C, Schrader A, Weitzenkamp D, Benke TA, Goldson EJ, Costa AC. Antagonism of NMDA receptors as a potential treatment for Down syndrome: a pilot randomized controlled trial. Transl Psychiatry. 2012 Jul 17;2:e141. PubMed PMID: 22806212
• Liu X, Li F, Stubblefield EA, Blanchard B, Richards TL, Larson GA, He Y, Huang Q, Tan AC, Zhang D, Benke TA, Sladek JR, Zahniser NR, Li CY. Direct reprogramming of human fibroblasts into dopaminergic neuron-like cells. Cell Res. 2012 Feb;22(2):321-32. PubMed PMID: 22105488
• Bernard PB, Castano AM, O'Leary H, Simpson K, Browning MD, Benke TA. Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures. Neurobiol Dis. 2013 Nov;59:1-17. PubMed PMID: 23831253
• Benke T. O brother, wherefore are thou? Calcium-permeable AMPA receptors make an appearance in adult status epilepticus. Epilepsy Curr. 2013 Jan;13(1):32-4. PubMed PMID: 23447737
• Thyssen A, Mitchell M, Qvarnstrom Y, Rao S, Benke TA, Glodé MP. Eosinophilic meningitis in a previously healthy 13-year-old child. Pediatr Infect Dis J. 2013 Feb;32(2):194, 198. PubMed PMID: 23328824
• Benke TA. What you seize is what you get: do we yet understand epilepsy in rett syndrome?. Epilepsy Curr. 2014 Sep;14(5):283-5. PubMed PMID: 25346641
• Bernard PB, Benke TA. Early life seizures: Evidence for chronic deficits linked to autism and intellectual disability across species and models. Exp Neurol. 2015 Jan;263:72-8. PubMed PMID: 25284323
• Benke T. What the dentate gyrus and the millennial in your basement have in common. Epilepsy Curr. 2014 May;14(3):152-4. PubMed PMID: 24940163
• Benke T. Benchmark IV Progressing Nicely: Rational Pharmacotherapy May Address Cognitive Decline in Epilepsy. Epilepsy Curr. 2014 Mar;14(2):90-2. PubMed PMID: 24872788
• Barcomb K, Buard I, Coultrap SJ, Kulbe JR, O'Leary H, Benke TA, Bayer KU. Autonomous CaMKII requires further stimulation by Ca2 /calmodulin for enhancing synaptic strength. FASEB J. 2014 Aug;28(8):3810-9. PubMed PMID: 24843070
• Bernard PB, Castano AM, Bayer KU, Benke TA. Necessary, but not sufficient: insights into the mechanisms of mGluR mediated long-term depression from a rat model of early life seizures. Neuropharmacology. 2014 Sep;84:1-12. PubMed PMID: 24780380
• "Behavioral changes following a single episode of early-life seizures support the latent development of an autistic phenotype", Bernard, PB; Castano, AM; Beitzel, CS, Carlson, VM and Benke TA; Epilepsy and Behavior, 2015, in press
• O'Leary H, Bernard PB, Castano AM, Benke TA. Enhanced long term potentiation and decreased AMPA receptor desensitization in the acute period following a single kainate induced early life seizure. Neurobiol Dis. 2015 Dec 16. [Epub ahead of print] PubMed PMID: 26706598
• Benke TA. GettING in Touch With What Drives Your Inner Funky: Sources of CA1 Gamma Oscillations. Epilepsy Curr. 2015 Sep-Oct;15(5):271-3. PubMed PMID: 26448733
• Stafstrom CE, Benke TA. Autism and Epilepsy: Exploring the Relationship Using Experimental Models. Epilepsy Curr. 2015 Jul-Aug;15(4):206-10. PubMed PMID: 26316869
• Bernard PB, Castano AM, Beitzel CS, Carlson VB, Benke TA. Behavioral changes following a single episode of early-life seizures support the latent development of an autistic phenotype. Epilepsy Behav. 2015 Mar;44:78-85. PubMed PMID: 25659043
• Bernard PB, Benke TA. Early life seizures: evidence for chronic deficits linked to autism and intellectual disability across species and models. Exp Neurol. 2015 Jan;263:72-8. PubMed PMID: 25284323
• Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. JIMD Rep. 2016 Nov 18. [Epub ahead of print] PubMed PMID: 27858369
• Goodell DJ, Benke TA, Bayer KU. Developmental restoration of LTP deficits in heterozygous CaMKIIa KO mice. J Neurophysiol. 2016 Nov 1;116(5):2140-2151. PubMed PMID: 27535377
• Goldman AM, LaFrance WC Jr, Benke T, Asato M, Drane D, Pack A, Syed T, Doss R, Lhatoo S, Fureman B, Dingledine R. 2014 Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across The Lifespan. Epilepsy Curr. 2016 May-Jun;16(3):198-205. PubMed PMID: 27330453
• Barcomb K, Hell JW, Benke TA, Bayer KU. The CaMKII/GluN2B Protein Interaction Maintains Synaptic Strength. J Biol Chem. 2016 Jul 29;291(31):16082-9. PubMed PMID: 27246855
• O'Leary H, Bernard PB, Castano AM, Benke TA. Enhanced long term potentiation and decreased AMPA receptor desensitization in the acute period following a single kainate induced early life seizure. Neurobiol Dis. 2016 Mar;87:134-44. PubMed PMID: 26706598
• Kirk ME, Meredith FL, Benke TA, Rennie KJ. AMPA receptor-mediated rapid EPSCs in vestibular calyx afferents. J Neurophysiol. 2017 Jun 1;117(6):2312-2323. PubMed PMID: 28298303
• Larson A, Weisfeld-Adams JD, Benke TA, Bonnen PE. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. JIMD Rep. 2017;35:1-5. PubMed PMID: 27858369
• 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 neurological disorder, Neurology: Genetics (in press) 2017.
• Caballes, H. and Benke, T.A. "Animal Models of Other Brain Diseases With Altered Seizure Susceptibility: Autism and Fragile X Syndrome" in Models of Seizures and Epilepsy, Pitkanen, A. (Ed.), 2017.
• 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 Jan;180(1):55-67. PubMed PMID: 30536762
• Benke T, Traynelis SF. AMPA-Type Glutamate Receptor Conductance Changes and Plasticity: Still a Lot of Noise. Neurochem Res. 2018 Feb 23. [Epub ahead of print] PubMed PMID: 29476449
• Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response Dee Daniels, CPNP, RN, MSN1, 2, Kelly Knupp, MD, MSCS1, 2, Tim Benke, MD, PhD1, 2, Kristine Wolter-Warmerdam, PhD, ABD, MA1, Maura Moran, BA1, Fran Hickey, MD1, 2 Pediatric Global Health
• 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. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 Aug;60(8):1733-1742. PubMed PMID: 31313283
• 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 Aug;97:38-42. PubMed PMID: 31147226
• Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. Pediatr Neurol. 2019 Aug;97:18-25. PubMed PMID: 30928302
• 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 May;95(5):575-581. PubMed PMID: 30788845
• Daniels D, Knupp K, Benke T, Wolter-Warmerdam K, Moran M, Hickey F. Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response. Glob Pediatr Health. 2019;6:2333794X18821939. PubMed PMID: 30671494
• 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 Jan;180(1):55-67. PubMed PMID: 30536762
• Benke T, Traynelis SF. AMPA-Type Glutamate Receptor Conductance Changes and Plasticity: Still a Lot of Noise. Neurochem Res. 2019 Mar;44(3):539-548. PubMed PMID: 29476449
• Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL. Phenotypic features in MECP2 duplication syndrome: Effects of age. Am J Med Genet A. 2020 Nov 10. [Epub ahead of print] PubMed PMID: 33170557
• Raspa M, Bann CM, Gwaltney A, Benke TA, Fu C, Glaze DG, Haas R, Heydemann P, Jones M, Kaufmann WE, Lieberman D, Marsh E, Peters S, Ryther R, Standridge S, Skinner SA, Percy AK, Neul JL. A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials. Am J Intellect Dev Disabil. 2020 Nov 1;125(6):493-509. PubMed PMID: 33211820
• 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. PubMed PMID: 33047306
• Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Lane J, Dinkel T, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatr Open. 2020;4(1):e000731. PubMed PMID: 33024833
• Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. 2020;4(1):e000717. PubMed PMID: 32984552
• Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Oct;22(10):1682-1693. PubMed PMID: 32475986
• Benke TA, Kind PC. Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. Brain. 2020 Mar 1;143(3):716-718. PubMed PMID: 32203572
• O'Leary H, Vanderlinden L, Southard L, Castano A, Saba LM, Benke TA. Transcriptome analysis of rat dorsal hippocampal CA1 after an early life seizure induced by kainic acid. Epilepsy Res. 2020 Mar;161:106283. PubMed PMID: 32062370
• Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED. Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study. Ann Neurol. 2020 Aug;88(2):396-406. PubMed PMID: 32472944
• Brock DC, Demarest S, Benke TA. Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies. Neurotherapeutics. 2021 Sep 30. [Epub ahead of print] PubMed PMID: 34595733
• Benke TA, Park K, Krey I, Camp CR, Song R, Ramsey AJ, Yuan H, Traynelis SF, Lemke J. Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs. Neuropharmacology. 2021 Nov 1;199:108805. PubMed PMID: 34560056
• Brock D, Fidell A, Thomas J, Juarez-Colunga E, Benke TA, Demarest S. Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement. J Child Neurol. 2021 Oct;36(11):974-980. PubMed PMID: 34547934
• 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. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 Sep 16;13(1):40. PubMed PMID: 34530725
• 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. PubMed PMID: 34378447
• Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 Nov;63(11):1308-1315. PubMed PMID: 34028805
• Aledo-Serrano Á, Gómez-Iglesias P, Toledano R, Garcia-Peñas JJ, Garcia-Morales I, Anciones C, Soto-Insuga V, Benke TA, Del Pino I, Gil-Nagel A. Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort. Epilepsy Behav. 2021 May;118:107946. PubMed PMID: 33848848
• Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Multisite Study of Evoked Potentials in Rett Syndrome. Ann Neurol. 2021 Apr;89(4):790-802. PubMed PMID: 33480039
• Raspa M, Bann CM, Gwaltney A, Benke TA, Fu C, Glaze DG, Haas R, Heydemann P, Jones M, Kaufmann WE, Lieberman D, Marsh E, Peters S, Ryther R, Standridge S, Skinner SA, Percy AK, Neul JL. A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials. Am J Intellect Dev Disabil. 2020 Nov 1;125(6):493-509. PubMed PMID: 33211820
• Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL. Phenotypic features in MECP2 duplication syndrome: Effects of age. Am J Med Genet A. 2021 Feb;185(2):362-369. PubMed PMID: 33170557
• 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. PubMed PMID: 33047306
• Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Lane J, Dinkel T, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatr Open. 2020;4(1):e000731. PubMed PMID: 33024833
• Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. 2020;4(1):e000717. PubMed PMID: 32984552
• Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Oct;22(10):1682-1693. PubMed PMID: 32475986
• Benke TA, Kind PC. Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. Brain. 2020 Mar 1;143(3):716-718. PubMed PMID: 32203572
• O'Leary H, Vanderlinden L, Southard L, Castano A, Saba LM, Benke TA. Transcriptome analysis of rat dorsal hippocampal CA1 after an early life seizure induced by kainic acid. Epilepsy Res. 2020 Mar;161:106283. PubMed PMID: 32062370
• Haviland I, Daniels CI, Greene CA, Drew J, Love-Nichols JA, Swanson LC, Smith L, Nie DA, Benke T, Sheidley BR, Zhang B, Poduri A, Olson HE. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. Pediatr Neurol. 2023 Jan;138:71-80. PubMed PMID: 36403551
• Stansauk J, Fidell A, Benke T, Schaffer M, Demarest ST. Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder. Am J Med Genet A. 2023 Jan;191(1):108-111. PubMed PMID: 36372969
• Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J, Leonard H. Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder. Eur J Hum Genet. 2022 Oct 13. [Epub ahead of print] PubMed PMID: 36224270
• Sanderson JL, Freund RK, Castano AM, Benke TA, Dell'Acqua ML. The Ca(V)1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca(2 ) channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome. Neuropharmacology. 2022 Dec 1;220:109271. PubMed PMID: 36162529
• Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J, Leonard H. Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder. Eur J Hum Genet. 2022 Aug 18. [Epub ahead of print] PubMed PMID: 35978140
• Saby JN, Mulcahey PJ, Zavez AE, Peters SU, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Benke TA, Marsh ED. Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder. Brain Commun. 2022;4(4):fcac197. PubMed PMID: 35974796
• Leonard H, Whitehouse A, Jacoby P, Benke T, Demarest S, Saldaris J, Wong K, Reddihough D, Williams K, Downs J. Quality of life beyond diagnosis in intellectual disability - Latent profiling. Res Dev Disabil. 2022 Oct;129:104322. PubMed PMID: 35939908
• Demarest S, Calhoun J, Eschbach K, Yu HC, Mirsky D, Angione K, Shaikh TH, Carvill GL, Benke TA. Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms. Dev Med Child Neurol. 2022 May;64(5):633-640. PubMed PMID: 35830182
• Amin S, Monaghan M, Aledo-Serrano A, Bahi-Buisson N, Chin RF, Clarke AJ, Cross JH, Demarest S, Devinsky O, Downs J, Pestana Knight EM, Olson H, Partridge CA, Stuart G, Trivisano M, Zuberi S, Benke TA. International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder. Front Neurol. 2022;13:874695. PubMed PMID: 35795799
• Buchanan CB, Stallworth JL, Joy AE, Dixon RE, Scott AE, Beisang AA, Benke TA, Glaze DG, Haas RH, Heydemann PT, Jones MD, Lane JB, Lieberman DN, Marsh ED, Neul JL, Peters SU, Ryther RC, Skinner SA, Standridge SM, Kaufmann WE, Percy AK. Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study. J Neurodev Disord. 2022 May 14;14(1):31. PubMed PMID: 35568815
• Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. CDKL5 deficiency disorder: clinical features, diagnosis, and management. Lancet Neurol. 2022 Jun;21(6):563-576. PubMed PMID: 35483386
• Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. Lancet Neurol. 2022 May;21(5):417-427. PubMed PMID: 35429480
• 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). J Child Neurol. 2022 May;37(6):541-547. PubMed PMID: 35422141
• 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. J Sleep Res. 2022 Oct;31(5):e13600. PubMed PMID: 35415902
• Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC. Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Mol Genet Genomic Med. 2022 May;10(5):e1917. PubMed PMID: 35318820
• Leonard H, Gold W, Samaco R, Sahin M, Benke T, Downs J. Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome. Orphanet J Rare Dis. 2022 Mar 4;17(1):108. PubMed PMID: 35246185
• Demarest S, Marsh R, Treat L, Fisher MP, Dempsey A, Junaid M, Downs J, Leonard H, Benke T, Morris MA. The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child. J Child Neurol. 2022 May;37(6):451-460. PubMed PMID: 35196159
• Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Peters SU, Jones NE, Youakim JM. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022 Mar;114:106704. PubMed PMID: 35149233
• Jacoby P, Whitehouse A, Leonard H, Saldaris J, Demarest S, Benke T, Downs J. Devising a Missing Data Rule for a Quality of Life Questionnaire-A Simulation Study. J Dev Behav Pediatr. 2022 Aug 1;43(6):e414-e418. PubMed PMID: 35075044
• Motil KJ, Geerts S, Annese F, Neul JL, Benke T, Marsh E, Lieberman D, Skinner SA, Glaze DG, Heydemann P, Beisang A, Standridge S, Ryther R, Lane JB, Edwards L, Percy AK. Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome. J Pediatr. 2022 May;244:169-177.e3. PubMed PMID: 35063470
• Bigelow LJ, Fiset C, Jarvis JHM, Macleod S, Wöhr M, Benke TA, Bernard PB. Early-life seizures modify behavioral response to ultrasonic vocalization playback in adult rats. Epilepsy Behav. 2022 Feb;127:108494. PubMed PMID: 34954511
• XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. Clinical and functional consequences of GRIA variants in patients with neurological diseases. Cell Mol Life Sci. 2023 Nov 3;80(11):345. PubMed PMID: 37921875
• Neul JL, Benke TA, Marsh ED, Suter B, Silveira L, Fu C, Peters SU, Percy AK. Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. J Neurodev Disord. 2023 Oct 13;15(1):33. PubMed PMID: 37833681
• Daniels C, Greene C, Smith L, Pestana-Knight E, Demarest S, Zhang B, Benke TA, Poduri A, Olson HE. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. Dev Med Child Neurol. 2023 Sep 28. [Epub ahead of print] PubMed PMID: 37771170
• Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Parental age effects and Rett syndrome. Am J Med Genet A. 2023 Sep 28. [Epub ahead of print] PubMed PMID: 37768187
• Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED, Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J, Rajaraman R, VanderVeen G, Benke TA, Downs J, Demarest S. The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder. Epilepsy Res. 2023 Nov;197:107231. PubMed PMID: 37751639
• Camp CR, Vlachos A, Klöckner C, Krey I, Banke TG, Shariatzadeh N, Ruggiero SM, Galer P, Park KL, Caccavano A, Kimmel S, Yuan X, Yuan H, Helbig I, Benke TA, Lemke JR, Pelkey KA, McBain CJ, Traynelis SF. Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons. Commun Biol. 2023 Sep 19;6(1):952. PubMed PMID: 37723282
• Percy AK, Neul JL, Benke TA, Marsh ED, Glaze DG. A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome. Front Pediatr. 2023;11:1229553. PubMed PMID: 37635789
• Castano A, Silvestre M, Wells CI, Sanderson JL, Ferrer CA, Ong HW, Lang Y, Richardson W, Silvaroli JA, Bashore FM, Smith JL, Genereux IM, Dempster K, Drewry DH, Pabla NS, Bullock AN, Benke TA, Ultanir SK, Axtman AD. Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology. Elife. 2023 Jul 25;12. PubMed PMID: 37490324
• Myers SJ, Yuan H, Perszyk RE, Zhang J, Kim S, Nocilla KA, Allen JP, Bain JM, Lemke JR, Lal D, Benke TA, Traynelis SF. Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Hum Mol Genet. 2023 Sep 16;32(19):2857-2871. PubMed PMID: 37369021
• Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, Lin T, Stankovic S, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat Med. 2023 Jun;29(6):1468-1475. PubMed PMID: 37291210
• Meredith FL, Vu TA, Gehrke B, Benke TA, Dondzillo A, Rennie KJ. Expression of hyperpolarization-activated current (I(h)) in zonally defined vestibular calyx terminals of the crista. J Neurophysiol. 2023 Jun 1;129(6):1468-1481. PubMed PMID: 37198134
• Saldaris J, Leonard H, Wong K, Jacoby P, Spence M, Marsh ED, Benke TA, Demarest S, Downs J. Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder. J Autism Dev Disord. 2023 May 15. [Epub ahead of print] PubMed PMID: 37184758
• Olson HE, Demarest S, Pestana-Knight E, Moosa AN, Zhang X, Pérez-Pérez JR, Weisenberg J, O'Connor Prange E, Marsh ED, Rajaraman RR, Suter B, Katyayan A, Haviland I, Daniels C, Zhang B, Greene C, DeLeo M, Swanson L, Love-Nichols J, Benke T, Harini C, Poduri A. Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies. Epilepsia. 2023 Jul;64(7):1821-1832. PubMed PMID: 37114835
• Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Comparison of evoked potentials across four related developmental encephalopathies. J Neurodev Disord. 2023 Mar 4;15(1):10. PubMed PMID: 36870948
• Saldaris JM, Jacoby P, Leonard H, Benke TA, Demarest S, Marsh ED, Downs J. Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials. Epilepsy Behav. 2023 Feb;139:109069. PubMed PMID: 36634535
• Haviland I, Daniels CI, Greene CA, Drew J, Love-Nichols JA, Swanson LC, Smith L, Nie DA, Benke T, Sheidley BR, Zhang B, Poduri A, Olson HE. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. Pediatr Neurol. 2023 Jan;138:71-80. PubMed PMID: 36403551
• Stansauk J, Fidell A, Benke T, Schaffer M, Demarest ST. Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder. Am J Med Genet A. 2023 Jan;191(1):108-111. PubMed PMID: 36372969
• Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J, Leonard H. Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder. Eur J Hum Genet. 2023 Feb;31(2):169-178. PubMed PMID: 35978140
• Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. MECP2 Variants in Males: More Common than Previously Appreciated. Pediatr Neurol. 2024 Sep 30;161:263-267. [Epub ahead of print] PubMed PMID: 39476560
• Bigelow LJ, Pope EK, Jarvis JHM, Fiset C, Le Maistre-Matthys C, Benke TA, Bernard PB. Early life seizures and olfactory communication in rats. Epilepsia. 2024 Oct;65(10):3091-3099. PubMed PMID: 39221936
• Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2024 Aug 28;:e63843. [Epub ahead of print] PubMed PMID: 39205479
• Neul JL, Benke TA, Marsh ED, Suter B, Fu C, Ryther RC, Skinner SA, Lieberman DN, Feyma T, Beisang A, Heydemann P, Peters SU, Ananth A, Percy AK. Clinical Features and Disease Progression in Older Individuals with Rett Syndrome. Genes (Basel). 2024 Aug 22;15(8). PubMed PMID: 39202466
• Saldaris JM, Jacoby P, Downs J, Marsh ED, Leonard H, Pestana-Knight E, Rajaraman R, Weisenberg J, Suter B, Olson HE, Price D, Hong W, Prange E, Benke TA, Demarest S. Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder. Epilepsia. 2024 Oct;65(10):3064-3075. PubMed PMID: 39190322
• Saldaris JM, Ayalde J, Kankanange S, Keeley J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest ST, Downs J. Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review. Int J Lang Commun Disord. 2024 Nov-Dec;59(6):2528-2553. PubMed PMID: 39141588
• Percy AK, Neul JL, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, Barrett AM, An D, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study. Med. 2024 Oct 11;5(10):1275-1281.e2. PubMed PMID: 39025065
• Saldaris JM, Demarest S, Jacoby P, Olson HE, Maski K, Pestana-Knight E, Price D, Rajaraman R, Suter B, Weisenberg J, Leonard H, Marsh ED, Benke TA, Downs J. Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study. J Clin Sleep Med. 2024 Jul 4. [Epub ahead of print] PubMed PMID: 38963064
• Downs J, Jacoby P, Specchio N, Cross H, Amin S, Bahi-Buisson N, Rajaraman R, Suter B, Devinsky O, Aimetti A, Busse G, Olson HE, Demarest S, Benke TA, Pestana-Knight E. Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial. Eur J Paediatr Neurol. 2024 Jul;51:140-146. PubMed PMID: 38959712
• Percy AK, Neul JL, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, An D, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study. Med. 2024 Sep 13;5(9):1178-1189.e3. PubMed PMID: 38917793
• Simões de Oliveira L, O'Leary HE, Nawaz S, Loureiro R, Davenport EC, Baxter P, Louros SR, Dando O, Perkins E, Peltier J, Trost M, Osterweil EK, Hardingham GE, Cousin MA, Chattarji S, Booker SA, Benke TA, Wyllie DJA, Kind PC. Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder. Mol Autism. 2024 Jun 14;15(1):28. PubMed PMID: 38877552
• Swanson MA, Jiang H, Busquet N, Carlsen J, Brindley C, Benke TA, Van Hove RA, Friederich MW, MacLean KN, Mesches MH, Van Hove JLK. Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia. J Inherit Metab Dis. 2024 Sep;47(5):971-990. PubMed PMID: 38840294
• Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing. Am J Med Genet A. 2024 Oct;194(10):e63725. PubMed PMID: 38775384
• Saby JN, Mulcahey PJ, Benke TA, Peters SU, Standridge SM, Lieberman DN, Key AP, Percy AK, Nelson CA, Roberts TPL, Neul JL, Marsh ED. Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders. Ann Neurol. 2024 Jul;96(1):175-186. PubMed PMID: 38721759
• Benke TA, Demarest S, Angione K, Downs J, Leonard H, Saldaris J, Marsh ED, Olson H, Haviland I. CDKL5 Deficiency Disorder. 2024 Apr 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.PMID: 38603524
• Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cell Mol Life Sci. 2024 Mar 28;81(1):153. PubMed PMID: 38538865
• Raspa M, Gwaltney A, Bann C, von Hehn J, Benke TA, Marsh ED, Peters SU, Ananth A, Percy AK, Neul JL. Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS). J Autism Dev Disord. 2024 Mar 5. [Epub ahead of print] PubMed PMID: 38438817
• Keeley J, Benson-Goldberg S, Saldaris J, Lariviere J, Leonard H, Marsh ED, Demarest ST, Benke TA, Jacoby P, Downs J. Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study. Am J Med Genet A. 2024 Jul;194(7):e63570. PubMed PMID: 38425131
• Saldaris JM, Jacoby P, Marsh ED, Suter B, Leonard H, Olson HE, Rajaraman R, Pestana-Knight E, Weisenberg J, Price D, Drummond C, Benke TA, Demarest S, Downs J. Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study. Epilepsy Res. 2024 Feb;200:107287. PubMed PMID: 38237219
• Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Peters SU, Marsh ED, An D, Bishop KM, Youakim JM. Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome. Pediatr Neurol. 2024 Mar;152:63-72. PubMed PMID: 38232652
• Daniels C, Greene C, Smith L, Pestana-Knight E, Demarest S, Zhang B, Benke TA, Poduri A, Olson HE. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. Dev Med Child Neurol. 2024 Apr;66(4):456-468. PubMed PMID: 37771170
• Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Parental age effects and Rett syndrome. Am J Med Genet A. 2024 Feb;194(2):160-173. PubMed PMID: 37768187
• Saldaris J, Leonard H, Wong K, Jacoby P, Spence M, Marsh ED, Benke TA, Demarest S, Downs J. Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder. J Autism Dev Disord. 2024 Jul;54(7):2526-2535. PubMed PMID: 37184758

Professional Memberships

• American Epilepsy Society, Member
• Society for Neuroscience, Member
• Child Neurology Society, Member
• Neuorpharmacology (Journal), Editorial Board

Practice Locations

• Children's Hospital Colorado

Specialty Information

• Child Neurology, Board Certification (2002)

• Brain and Nervous System
• Brain and Nervous System - Cerebral Palsy
• Brain and Nervous System - Chiari Malformation
• Brain and Nervous System - Epilepsy
• Brain and Nervous System - Meningitis
• Brain and Nervous System - Migraine
• Brain and Nervous System - Movement Disorders
• Brain and Nervous System - Neuromuscular Diseases
• Brain and Nervous System - Neurovascular Conditions
• Brain and Nervous System - Traumatic and Acquired Brain Injuries
• Brain and Nervous System - Stroke
• Genetic Conditions and Testing