Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Scott Thomas Demarest

TitleAssociate Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Hayrapetyan A, Makarenko V, Tumasyan A, Adam W, Benato L, Bergauer T, Dragicevic M, Hussain PS, Jeitler M, Krammer N, Li A, Liko D, Matthewman M, Schieck J, Schöfbeck R, Shooshtari M, Sonawane M, Van Den Bossche N, Waltenberger W, Wulz CE, Janssen T, Kwon H, Ocampo Henao D, Van Laer T, Van Mechelen P, Ahmadi D, Bierkens J, Breugelmans N, D'Hondt J, Dansana S, De Moor A, Delcourt M, Gupta C, Heyen F, Hong Y, Kashko P, Lowette S, Makarenko I, Nandakumar S, Tavernier S, Tytgat M, Van Onsem GP, Van Putte S, Vannerom D, Wybouw T, Beshr A, Bilin B, Caviglia Roman F, Clerbaux B, Das AK, De Bruyn I, De Lentdecker G, Ducarme E, Evard H, Favart L, Khalilzadeh A, Malara A, Shahzad MA, Sharma A, Thomas L, Vanden Bemden M, Vander Velde C, Vanlaer P, Zhang F, Cauwels A, De Coen M, Dobur D, Giordano C, Gokbulut G, Kaspar K, Kavtaradze D, Marckx D, Skovpen K, Tomaru AM, van der Linden J, Vandenbroeck J, Aarup Petersen H, Bein S, Benecke A, Bethani A, Bruno G, Cappati A, De Favereau De Jeneret J, Delaere C, Gameiro Casalinho F, Giammanco A, Guzel AO, Lemaitre V, Lidrych J, Malek P, Turkcapar S, Alves GA, Barroso Ferreira Filho M, Coelho E, Gonçalves Sales MV, Hensel C, Matos Figueiredo D, Menezes De Oliveira T, Mora Herrera C, Rebello Teles P, Soeiro M, Tonelli Manganote EJ, Vilela Pereira A, Aldá Júnior WL, Brandao Malbouisson H, Carvalho W, Chinellato J, Costa Reis M, Da Costa EM, Da Silva Dalto D, Da Silveira GG, De Jesus Damiao D, Fonseca De Souza S, Gomes De Souza R, Jesus SS, Laux Kuhn T, Maslova K, Mota Amarilo K, Mundim L, Nogima H, Pinheiro JP, Santoro A, Sznajder A, Thiel M, Torres Da Silva De Araujo F, Bernardes CA, Calligaris L, Carvalho Leite J, Damas F, Tomei TRFP, Gregores EM, Lopes Da Costa B, Maietto Silverio I, Mercadante PG, Novaes SF, Padula SS, Scheurer V, Aleksandrov A, Antchev G, Danev P, Hadjiiska R, Iaydjiev P, Shopova M, Sultanov G, Dimitrov A, Litov L, Pavlov B, Petkov P, Petrov A, Keshri S, Laroze D, Meena M, Thakur S, Brooks W, Cheng T, Javaid T, Wang L, Yuan L, Gu J, Hu Z, Liang Z, Liu J, Wang X, Wang Y, Yang H, Zhang S, Chen GM, Chen HS, Chen M, Chen Y, Hou Q, Hou X, Iemmi F, Jiang CH, Liao H, Liu G, Liu ZA, Song S, Tao J, Wang C, Wang J, Zhang H, Zhao J, Agapitos A, Ban Y, Carvalho Antunes De Oliveira A, Deng S, Geng X, Guo B, Guo Q, He Z, Jiang C, Levin A, Li C, Li Q, Mao Y, Qian S, Qian SJ, Qin X, Quaranta C, Sun X, Wang D, Wang J, Yang T, Zhang M, Zhao Y, Zhou C, Hua X, Yang S, You Z, Lu N, Bauer G, Chen L, Cui Z, Li B, Wang H, Yi K, Zhang J, Li C, Li Y, Zhou Y, Lin Z, Lu C, Xiao M, Avila C, Cabrera A, Florez C, Reyes Vega JA, Rendón C, Rodriguez M, Ruales Barbosa AA, Ruiz Alvarez JD, Godinovic N, Lelas D, Sculac A, Kovac M, Petkovic A, Sculac T, Bargassa P, Brigljevic V, Ferencek D, Jakovcic K, Starodumov A, Susa T, Attikis A, Christoforou K, Konstantinou S, Leonidou C, Paizanos L, Ptochos F, Razis PA, Rykaczewski H, Saka H, Stepennov A, Finger M, Finger M, Acurio E, Carrera Jarrin E, Elgammal S, Ellithi Kamel A, Hussein A, Mohammed H, Jaffel K, Kadastik M, Lange T, Nielsen C, Pata J, Raidal M, Seeba N, Tani L, Brücken E, Milieva A, Osterberg K, Voutilainen M, Garcia F, Hilden T, Inkaew P, Kallonen KTS, Kumar Verma R, Lampén T, Lassila-Perini K, Lehtela B, Lehti S, Lindén T, Mancilla Xinto NR, Myllymäki M, Rantanen MM, Saariokari S, Toikka NT, Tuominiemi J, Bin Norjoharuddeen N, Kirschenmann H, Luukka P, Petrow H, Besancon M, Couderc F, Dejardin M, Denegri D, Devouge P, Faure JL, Ferri F, Gaigne P, Ganjour S, Gras P, Guilloux F, Hamel de Monchenault G, Kumar M, Lohezic V, Maidannyk Y, Malcles J, Orlandi F, Portales L, Ronchi S, Sahin MÖ, Simkina P, Titov M, Tornago M, Amella Ranz R, Beaudette F, Boldrini G, Busson P, Charlot C, Chiusi M, Cuisset TD, Davignon O, De Wit A, Debnath T, Ehle IT, Ghosh S, Gilbert A, Granier de Cassagnac R, Manoni M, Nguyen M, Obraztsov S, Ochando C, Salerno R, Sauvan JB, Sirois Y, Sokmen G, Song Y, Urda Gómez L, Voirin B, Zabi A, Zghiche A, Agram JL, Andrea J, Bloch D, et al. Evidence of ZZ? Production and Observation of 4l? in Proton-Proton Collisions at sqrt[s]=13??TeV. Phys Rev Lett. 2026 Aug 28; 137(9):091805. PMID: 42727009.
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    2. Saby JN, Fleysh D, Kessler C, Jacoby P, Saldaris JM, Suter B, Olson HE, Hong W, Wilkinson CL, Downs J, Leonard H, Demarest S, Benke TA, Marsh ED. Associations between EEG measures and clinical severity in CDKL5 deficiency disorder. Clin Neurophysiol. 2026 Nov; 191:2112378. PMID: 42632229.
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    3. Hayrapetyan A, Makarenko V, Tumasyan A, Adam W, Benato L, Bergauer T, Dragicevic M, Hussain PS, Jeitler M, Krammer N, Li A, Liko D, Matthewman M, Schieck J, Schöfbeck R, Shooshtari M, Sonawane M, Van Den Bossche N, Waltenberger W, Wulz CE, Janssen T, Kwon H, Ocampo Henao D, Van Laer T, Van Mechelen P, Ahmadi D, Bierkens J, Breugelmans N, D'Hondt J, Dansana S, De Moor A, Delcourt M, Gupta C, Heyen F, Hong Y, Kashko P, Lowette S, Makarenko I, Nandakumar S, Tavernier S, Tytgat M, Van Onsem GP, Van Putte S, Vannerom D, Wybouw T, Beshr A, Bilin B, Caviglia Roman F, Clerbaux B, Das AK, De Bruyn I, De Lentdecker G, Ducarme E, Evard H, Favart L, Khalilzadeh A, Malara A, Shahzad MA, Sharma A, Thomas L, Vanden Bemden M, Vander Velde C, Vanlaer P, Zhang F, Cauwels A, De Coen M, Dobur D, Giordano C, Gokbulut G, Kaspar K, Kavtaradze D, Marckx D, Skovpen K, Tomaru AM, van der Linden J, Vandenbroeck J, Aarup Petersen H, Bein S, Benecke A, Bethani A, Bruno G, Cappati A, De Favereau De Jeneret J, Delaere C, Gameiro Casalinho F, Giammanco A, Guzel AO, Lemaitre V, Lidrych J, Malek P, Turkcapar S, Alves GA, Barroso Ferreira Filho M, Coelho E, Gonçalves Sales MV, Hensel C, Matos Figueiredo D, Menezes De Oliveira T, Mora Herrera C, Rebello Teles P, Soeiro M, Tonelli Manganote EJ, Vilela Pereira A, Aldá Júnior WL, Brandao Malbouisson H, Carvalho W, Chinellato J, Costa Reis M, Da Costa EM, Da Silva Dalto D, Da Silveira GG, De Jesus Damiao D, Fonseca De Souza S, Gomes De Souza R, Jesus SS, Laux Kuhn T, Maslova K, Mota Amarilo K, Mundim L, Nogima H, Pinheiro JP, Santoro A, Sznajder A, Thiel M, Torres Da Silva De Araujo F, Bernardes CA, Calligaris L, Carvalho Leite J, Damas F, Tomei TRFP, Gregores EM, Lopes Da Costa B, Maietto Silverio I, Mercadante PG, Novaes SF, Padula SS, Scheurer V, Aleksandrov A, Antchev G, Danev P, Hadjiiska R, Iaydjiev P, Shopova M, Sultanov G, Dimitrov A, Litov L, Pavlov B, Petkov P, Petrov A, Keshri S, Laroze D, Meena M, Thakur S, Brooks W, Cheng T, Javaid T, Wang L, Yuan L, Gu J, Hu Z, Liang Z, Liu J, Wang X, Wang Y, Yang H, Zhang S, Chen GM, Chen HS, Chen M, Chen Y, Hou Q, Hou X, Iemmi F, Jiang CH, Liao H, Liu G, Liu ZA, Song S, Tao J, Wang C, Wang J, Zhang H, Zhao J, Agapitos A, Ban Y, Carvalho Antunes De Oliveira A, Deng S, Guo B, Guo Q, Jiang C, Levin A, Li C, Li Q, Mao Y, Qian S, Qian SJ, Qin X, Quaranta C, Sun X, Wang D, Wang J, Yang T, Zhang M, Zhao Y, Zhou C, Hua X, Yang S, You Z, Lu N, Bauer G, Chen L, Cui Z, Li B, Wang H, Yi K, Zhang J, Li C, Li Y, Zhou Y, Lin Z, Lu C, Xiao M, Avila C, Cabrera A, Florez C, Reyes Vega JA, Rendón C, Rodriguez M, Ruales Barbosa AA, Ruiz Alvarez JD, Godinovic N, Lelas D, Sculac A, Kovac M, Petkovic A, Sculac T, Bargassa P, Brigljevic V, Ferencek D, Jakovcic K, Starodumov A, Susa T, Attikis A, Christoforou K, Konstantinou S, Leonidou C, Paizanos L, Ptochos F, Razis PA, Rykaczewski H, Saka H, Stepennov A, Finger M, Finger M, Acurio E, Carrera Jarrin E, Khalil S, Salama E, Hussein A, Mohammed H, Jaffel K, Kadastik M, Lange T, Nielsen C, Pata J, Raidal M, Seeba N, Tani L, Brücken E, Milieva A, Osterberg K, Voutilainen M, Garcia F, Hilden T, Inkaew P, Kallonen KTS, Kumar Verma R, Lampén T, Lassila-Perini K, Lehtela B, Lehti S, Lindén T, Mancilla Xinto NR, Myllymäki M, Rantanen MM, Saariokari S, Toikka NT, Tuominiemi J, Bin Norjoharuddeen N, Kirschenmann H, Luukka P, Petrow H, Besancon M, Couderc F, Dejardin M, Denegri D, Devouge P, Faure JL, Ferri F, Gaigne P, Ganjour S, Gras P, Guilloux F, Hamel de Monchenault G, Kumar M, Lohezic V, Maidannyk Y, Malcles J, Orlandi F, Portales L, Ronchi S, Sahin MÖ, Simkina P, Titov M, Tornago M, Amella Ranz R, Beaudette F, Boldrini G, Busson P, Charlot C, Chiusi M, Cuisset TD, Davignon O, De Wit A, Debnath T, Ehle IT, Ghosh S, Gilbert A, Granier de Cassagnac R, Manoni M, Nguyen M, Obraztsov S, Ochando C, Salerno R, Sauvan JB, Sirois Y, Sokmen G, Song Y, Urda Gómez L, Zabi A, Zghiche A, Agram JL, Andrea J, Bloch D, Brom JM, Chabert EC, Collard C, et al. Observation of the Jet Diffusion Wake Using Dijets in Heavy-Ion Collisions. Phys Rev Lett. 2026 Aug 14; 137(7):071902. PMID: 42675426.
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    4. Aartsma-Rus A, de Gusmao CM, Demarest S, van Roon-Mom W, Graessner H, Bush LW, Kogel C, Yu TW, Synofzik M, Schuele R. Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases. Cell Rep Med. 2026 Sep 15; 7(9):102989. PMID: 42594875.
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    5. Choudhari PR, Bonds K, Eschbach K, Chapman KE, Alexander A, Knupp KG, Park K, Demarest S, Bird W, Sirsi D, Talai A, Said R, Joshi C. Predicting pediatric epilepsy surgery outcomes via a multidisciplinary epilepsy surgery conference survey. Epilepsy Res. 2026 Aug 08; 227:107895. PMID: 42585886.
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    6. McKee JL, Ruggiero SM, Cunningham K, Coyne J, McSalley I, Kaufman MC, Bane B, Chisari T, Toib J, Glatts C, Tefft S, Orlando JM, Padmanabhan V, Gonzalez AK, Harrison A, Woo C, Zbikowski SA, Dhaduk R, Mercurio J, McCarthy M, Magielski JH, Grinspan Z, Abbott M, Knowles J, Chao HT, Xiong K, Berry-Kravis E, Tabarestani S, Graglia JM, Helde K, McNamar V, Son Rigby C, Goss J, Demarest S, Miele A, Prosser B, Boland MJ, Pierce SR, Helbig I. A prospective natural history study protocol for clinical trial readiness in synaptic disorders. Epilepsia. 2026 Jul 14. PMID: 42446932.
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    7. Bakhos C, Delagrammatikas CG, Demarest S, DeWoody Y, Dyer T, Miller IP, Moore A, Point AF, Rigby CS, Steinberg J, Vogel-Farley V, Wiltrout K. Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research. Front Neurol. 2026; 17:1619219. PMID: 41767010.
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    8. McKee JL, Ruggiero SM, Cunningham K, Coyne J, McSalley I, Kaufman MC, Bane B, Chisari T, Toib J, Glatts C, Tefft S, Orlando JM, Padmanabhan V, Gonzalez AK, Harrison A, Woo C, Zbikowski SA, Dhaduk R, Mercurio J, McCarthy M, Magielski JH, Grinspan Z, Abbott M, Knowles J, Chao HT, Xiong K, Berry-Kravis E, Tabarestani S, Graglia JM, Helde K, McNamar V, Rigby CS, Goss J, Demarest S, Miele A, Prosser B, Boland MJ, Pierce SR, Helbig I. A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders. medRxiv. 2026 Feb 02. PMID: 41674643.
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    9. SanInocencio C, Demarest S, Weitzman S, Thomas H, Chandran I, DeWoody Y. Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience. Qual Life Res. 2026 Jan 14; 35(2):47. PMID: 41533279.
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    10. Murthy H, Hoang N, Stark JC, Cui S, Pannia E, Tsoi CT, Harris S, Ceolin C, Verhaeghe L, Scholten S, Baribeau D, Summers J, Costain G, Selvanayagam T, Howe JL, Lewis MES, Brunet T, Rieger S, Rosenfeld JA, Craigen WJ, Burrage LC, Christie MR, Baldwin D, Wentzensen IM, Keren B, Cogne B, Isidor B, Afenjar A, Elshafie RM, Bastaki L, Alkanderi S, Myers KA, Demarest S, Angione K, Abbott M, Campeau PM, Dowling JJ, Mendoza-Londono R, Scherer SW, Deshwar AR, Vorstman J. Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia. Brain. 2026 Jan 08; 149(1):252-261. PMID: 40717498.
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    11. Abbott M, Angione K, Stringfellow M, Malik K, Saenz M, Miele A, Syverson K, Maniar B, Borello J, Chaby L, Demarest S. Evaluation of epilepsy in 8p-related disorders. Epilepsy Res. 2026 02; 220:107720. PMID: 41506120.
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    12. Downs J, Keeley J, Jacoby P, Benson-Goldberg S, Pillar S, Miele A, Leonard H, Saldaris J, Marsh ED, Benke TA, Demarest ST. Development and initial validation of the Communication Inventory Disability - Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder. J Patient Rep Outcomes. 2025 Dec 09; 10(1):6. PMID: 41364294.
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    13. Nguyen-Martinez AL, Jolliffe M, Scimeca LM, Park KL, Demarest S, Knupp KG, Angione K, Miele AS. Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists. Child Neuropsychol. 2026 May; 32(4):551-579. PMID: 41299892.
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    14. Jacoby P, Marsh ED, Demarest S, Saldaris JM, Leonard H, Olson HE, Saby JN, Pestana-Knight E, Rajaraman R, Price D, Weisenberg J, Suter B, Downs J, Benke TA. Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder. Brain Behav. 2025 Nov; 15(11):e71061. PMID: 41235743.
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    15. McEntee KE, McCurdy BL, Larson A, McCourt EA, Kaufman ML, Campbell AE, Pearson CG, Demarest S, Taliaferro JM, Hesselberth JR, Jagannathan S. Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome. bioRxiv. 2025 Oct 15. PMID: 41279107.
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    16. Keeley J, Skoda Z, Utley K, Marsh ED, Conecker GA, Hecker J, Ludwig NN, Leonard H, Saldaris J, Jacoby P, Pincus S, Benke TA, Demarest ST, Downs J. Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study. Qual Life Res. 2025 Dec; 34(12):3609-3620. PMID: 40924387.
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    17. Keeley J, Saldaris J, Benson-Goldberg S, Lariviere J, Leonard H, Marsh ED, Demarest ST, Benke TA, Jacoby P, Downs J. Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR). J Child Neurol. 2026 Apr; 41(4):520-528. PMID: 40900005.
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    18. Abbott M, Angione K, Stringfellow M, Malik K, Saenz M, McCourt E, Silveira L, Miele A, Benke TA, Demarest S. Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes. J Child Neurol. 2026 Apr; 41(4):470-477. PMID: 40767165.
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    19. Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, Fenger CD, Laze J, Rossi A, Trivisano M, Gonzalez-Giraldez B, Lama J, Krey I, Platzer K, Brischoux-Boucher E, Sarret C, Lomax LB, Zanus C, Musante L, Costa P, Moloney P, Delanty N, Russo A, Schönewolf-Greulich B, Bisgaard AM, Berger C, Freri E, Takahashi S, Zacher P, Jung J, Demarest S, Marsh E, Percy A, Neul J, Olson H, Swanson L, Meletti S, Cioclu MC, Ali QZ, Suller A, Beltran-Corbellini A, Gil-Nagel A, Zhang X, Previtali R, Højte AF, Specchio N, Downs J, Lesca G, Rubboli G, Andrade D, Gardella E, Pestana E, Devinsky O, Benke T, Helbig I, Thomas R, Møller RS. The natural history of CDKL5 deficiency disorder into adulthood. medRxiv. 2025 Jan 13. PMID: 39867409.
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    20. 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 12 01; 20(12):1887-1893. PMID: 38963064.
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    21. Kim-McManus O, Gleeson JG, Mignon L, Smith Fine A, Yan W, Nolen N, Demarest S, Berry-Kravis E, Finkel R, Leonard S, Finlayson S, Augustine E, Lyon GJ, Schule R, Yu T. A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases. Nat Commun. 2024 11 12; 15(1):9802. PMID: 39532857.
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    22. Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Clin Genet. 2025 02; 107(2):169-178. PMID: 39390634.
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    23. Perinelli MG, Abbott M, Balagura G, Riva A, Amadori E, Verrotti A, Demarest S, Striano P. Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol. Syst Rev. 2024 08 31; 13(1):223. PMID: 39217383.
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    24. 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. 2025 01; 197(1):e63843. PMID: 39205479.
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    25. 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. PMID: 39190322.
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    26. 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. PMID: 39141588.
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    27. 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. PMID: 38959712.
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    28. 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 07; 194(7):e63570. PMID: 38425131.
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    29. 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 02; 200:107287. PMID: 38237219.
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    30. Olson HE, Amin S, Bahi-Buisson N, Devinsky O, Marsh ED, Pestana-Knight E, Rajaraman RR, Aimetti AA, Rybak E, Kong F, Miller I, Hulihan J, Demarest S. Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up. Epilepsia. 2024 01; 65(1):37-45. PMID: 37950390.
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    31. 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 04; 66(4):456-468. PMID: 37771170.
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    32. 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 11; 197:107231. PMID: 37751639.
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    33. 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 07; 64(7):1821-1832. PMID: 37114835.
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    34. 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. PMID: 37184758.
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    35. Brock DC, Abbott M, Reed L, Kammeyer R, Gibbons M, Angione K, Bernard TJ, Gaskell A, Demarest S. Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications. Epilepsy Res. 2023 07; 193:107167. PMID: 37230012.
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    36. Demarest S, Jeste S, Agarwal N, Arkilo D, Asgharnejad M, Hsiao S, Thibert R. Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE). Epilepsy Behav. 2023 05; 142:109173. PMID: 37011526.
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    37. Kalvakuntla S, Lee M, Chung WK, Demarest S, Freed A, Horning KJ, Bichell TJ, Iannaccone ST, Goodspeed K. Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder. Front Neurosci. 2023; 17:1024388. PMID: 36895422.
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    38. 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. 2023 Feb; 31(2):252. PMID: 36224270.
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    39. 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 02; 139:109069. PMID: 36634535.
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    40. 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. PMID: 36372969.
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    41. 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 02; 31(2):169-178. PMID: 35978140.
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    42. 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. PMID: 35939908.
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    43. Knowles JK, Helbig I, Metcalf CS, Lubbers LS, Isom LL, Demarest S, Goldberg EM, George AL, Lerche H, Weckhuysen S, Whittemore V, Berkovic SF, Lowenstein DH. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia. 2022 10; 63(10):2461-2475. PMID: 35716052.
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    44. 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. PMID: 35795799.
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    45. Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2022 06 03; 145(5):1668-1683. PMID: 35190816.
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    46. Hong W, Haviland I, Pestana-Knight E, Weisenberg JL, Demarest S, Marsh ED, Olson HE. CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment. CNS Drugs. 2022 06; 36(6):591-604. PMID: 35633486.
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    47. 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 05; 21(5):417-427. PMID: 35429480.
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    48. Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. CDKL5 deficiency disorder: clinical features, diagnosis, and management. Lancet Neurol. 2022 06; 21(6):563-576. PMID: 35483386.
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    49. 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 05; 37(6):541-547. PMID: 35422141.
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    50. 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 10; 31(5):e13600. PMID: 35415902.
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    51. 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 05; 37(6):451-460. PMID: 35196159.
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    52. 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 08 01; 43(6):e414-e418. PMID: 35075044.
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    53. 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 05; 64(5):633-640. PMID: 35830182.
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    54. Demarest S, Brooks-Kayal A. Precision Treatments in Epilepsy. Neurotherapeutics. 2021 07; 18(3):1429-1431. PMID: 34704188.
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    55. Carvill GL, Matheny T, Hesselberth J, Demarest S. Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology. Neurotherapeutics. 2021 07; 18(3):1500-1514. PMID: 34648141.
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    56. 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 10; 36(11):974-980. PMID: 34547934.
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    57. Brock DC, Demarest S, Benke TA. Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies. Neurotherapeutics. 2021 07; 18(3):1445-1457. PMID: 34595733.
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    58. 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 09 16; 13(1):40. PMID: 34530725.
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    59. 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 10; 36(11):998-1006. PMID: 34378447.
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    60. Nelson JA, Demarest S, Thomas J, Juarez-Colunga E, Knupp KG. Evolution of Infantile Spasms to Lennox-Gastaut Syndrome: What Is There to Know? J Child Neurol. 2021 08; 36(9):752-759. PMID: 33764203.
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    61. Joshi C, Nickels K, Demarest S, Eltze C, Cross JH, Wirrell E. Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome. Seizure. 2021 Feb; 85:12-18. PMID: 33383403.
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    62. 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 01; 169:106521. PMID: 33341033.
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    63. 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 01; 99(1):157-165. PMID: 33047306.
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    64. Goodspeed K, Pérez-Palma E, Iqbal S, Cooper D, Scimemi A, Johannesen KM, Stefanski A, Demarest S, Helbig KL, Kang J, Shaffo FC, Prentice B, Brownstein CA, Lim B, Helbig I, De Los Reyes E, McKnight D, Crunelli V, Campbell AJ, Møller RS, Freed A, Lal D. Current knowledge of SLC6A1-related neurodevelopmental disorders. Brain Commun. 2020; 2(2):fcaa170. PMID: 33241211.
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    65. Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 08; 88(2):264-273. PMID: 32342562.
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    66. de Los Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless JW, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020 09; 110:64-70. PMID: 32684372.
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    67. Arystarkhova E, Haq IU, Luebbert T, Mochel F, Saunders-Pullman R, Bressman SB, Feschenko P, Salazar C, Cook JF, Demarest S, Brashear A, Ozelius LJ, Sweadner KJ. Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. Neurobiol Dis. 2019 12; 132:104577. PMID: 31425744.
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    68. 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 08; 60(8):1733-1742. PMID: 31313283.
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    69. 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 08; 97:38-42. PMID: 31147226.
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    70. Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain. 2019 03 01; 142(3):542-559. PMID: 30668673.
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    71. 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 08; 97:18-25. PMID: 30928302.
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    72. Angione K, Eschbach K, Smith G, Joshi C, Demarest S. Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy Res. 2019 02; 150:70-77. PMID: 30660939.
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    73. Angione K, Gibbons M, Demarest S. An Objective Method for Evaluating Next-Generation Sequencing Panels. J Child Neurol. 2019 03; 34(3):139-143. PMID: 30569809.
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    74. Demarest ST, Brooks-Kayal A. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Nat Rev Neurol. 2018 12; 14(12):735-745. PMID: 30448857.
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    75. Eschbach K, Moss A, Joshi C, Angione K, Smith G, Dempsey A, Juarez-Colunga E, Demarest ST. Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy Res. 2018 11; 147:95-101. PMID: 30286391.
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    76. Lim Z, Wong K, Downs J, Bebbington K, Demarest S, Leonard H. Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder. Epilepsy Res. 2018 10; 146:36-40. PMID: 30071384.
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    77. Nickels K, Thibert R, Rau S, Demarest S, Wirrell E, Kossoff EH, Joshi C, Nangia S, Shellhaas R. How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. Epilepsy Res. 2018 08; 144:14-19. PMID: 29729532.
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    78. Demarest ST, Shellhaas RA, Gaillard WD, Keator C, Nickels KC, Hussain SA, Loddenkemper T, Patel AD, Saneto RP, Wirrell E, Sánchez Fernández I, Chu CJ, Grinspan Z, Wusthoff CJ, Joshi S, Mohamed IS, Stafstrom CE, Stack CV, Yozawitz E, Bluvstein JS, Singh RK, Knupp KG. The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium. Epilepsia. 2017 12; 58(12):2098-2103. PMID: 29105055.
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    79. Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, La Piana R, Uggetti C, Wang J, Gordisch-Dressman H, van der Knaap MS, Livingston JH. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. J Child Neurol. 2015 Sep; 30(10):1343-8. PMID: 25535058.
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    80. Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL. Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014 Sep; 29(9):1249-56. PMID: 25038129.
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    81. Avula S, Parikh S, Demarest S, Kurz J, Gropman A. Treatment of mitochondrial disorders. Curr Treat Options Neurol. 2014 Jun; 16(6):292. PMID: 24700433.
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