The Ponzio Family Chair in Pediatric Neurology Research
Research Interests
Function of synapses; synaptic changes associated with learning, memory and development; seizures. Rett Syndrome. CDKL5 disorder. GRIN disorders. Neurogenetic conditions.
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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