Scott Demarest, MD
Associate Professor, Pediatrics-Neurology

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Medical School:
  • MD, The University of Texas School of Medicine at San Antonio (2009)
Graduate School :
  • MSCS, University of Colorado Health Sciences Center (2021)
Undergraduate School:
  • BS, University of Texas System (TX) (2005)
Residencies:
  • Children's National Medical Center/George Washington University Program, Child Neurology (2014)
  • Children's National Medical Center/George Washington University Program, Pediatrics (2011)
Fellowships:
  • University of Colorado (Children's Hospital Colorado) Program, Epilepsy (2015)
Department: Pediatrics-Neurology

Professional Titles

  • Assistant Professor

Research Interests

My research focuses on the characterization of clinical features, clinical trial design for disease modifying treatments and the development of novel precision therapies for epilepsy and neurogenetic conditions.

Teaching

  • Assistant Professor (2015)
    School of Medicine, Pediatrics
    Genetic Causes of Epilepsy in Children

Publications

  • Demarest S, Brooks-Kayal A. Precision Treatments in Epilepsy. Neurotherapeutics. 2021 Oct 26. [Epub ahead of print] PubMed PMID: 34704188
  • 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 Oct 14. [Epub ahead of print] PubMed PMID: 34648141
  • 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
  • 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
  • Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber D, Tartaglia M, Hamdan FF, Grabinska KA, Leuzzi V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain. 2021 Aug 11. [Epub ahead of print] PubMed PMID: 34382076
  • 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
  • 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 Aug;36(9):752-759. PubMed PMID: 33764203
  • 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. PubMed PMID: 33383403
  • 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 Jan;169:106521. PubMed PMID: 33341033
  • 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
  • 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. PubMed PMID: 33241211
  • 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. 2020 Oct 12. [Epub ahead of print] PubMed PMID: 33047306
  • 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 Sep;110:64-70. PubMed PMID: 32684372
  • 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 Aug;88(2):264-273. PubMed PMID: 32342562
  • Joshi, Charuta; Nickels, Katherine; Demarest, Scott; Eltze, Christin; Cross, J.Helen; Wirrell, Elaine, "Results of an International Delphi Consensus in Epilepsy with Myoclonic Atonic Seizures/ Doose syndrome" Seizure (Accepted)
  • 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 Aug;88(2):264-273. PubMed PMID: 32342562
  • 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 Sep;110:64-70. PubMed PMID: 32684372
  • 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. PubMed PMID: 33241211
  • 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
  • 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 Mar 1;142(3):542-559. PubMed PMID: 30668673
  • 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 Feb;150:70-77. PubMed PMID: 30660939
  • 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 Dec;132:104577. PubMed PMID: 31425744
  • . The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield. Epilepsia. 2019 May;60(5):797-806. PubMed PMID: 30951195
  • 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 Dec;132:104577. PubMed PMID: 31425744
  • Angione K, Gibbons M, Demarest S. An Objective Method for Evaluating Next-Generation Sequencing Panels. J Child Neurol. 2018 Dec 20;:883073818815036. [Epub ahead of print] PubMed PMID: 30569809
  • Demarest ST, Brooks-Kayal A. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Nat Rev Neurol. 2018 Dec;14(12):735-745. PubMed PMID: 30448857
  • 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 Aug;144:14-19. PubMed PMID: 29729532
  • 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 Oct;146:36-40. PubMed PMID: 30071384
  • 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 Nov;147:95-101. PubMed PMID: 30286391
  • Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, Piana RL, 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. PubMed PMID: 25535058
  • 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. PubMed PMID: 25038129
  • Avula S, Parikh S, Demarest S, Kurz J, Gropman A. Treatment of mitochondrial disorders. Curr Treat Options Neurol. 2014 Jun;16(6):292. PubMed PMID: 24700433
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Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation
  • Children's Hospital Colorado
Center Affiliations

Specialty Information

Specialties
  • Child Neurology, Board Certification (2014)
  • Epilepsy, Board Certification (2016)
Conditions & Treatments
  • Genetic Conditions and Testing
  • Brain and Nervous System - Epilepsy
  • Brain and Nervous System
Clinical Interests
I focus on the treatment of epilepsy due to genetic causes.

Care Philosophy
I believe in a collaborative approach to management of epilepsy and neurogenetic conditions.

General Information

Medical Schools:
  • MD, The University of Texas School of Medicine at San Antonio (2009)
Graduate Schools:
  • MSCS, University of Colorado Health Sciences Center (2021)
Undergraduate Schools:
  • BS, University of Texas System (TX) (2005)
Residency Programs:
  • Children's National Medical Center/George Washington University Program, Child Neurology (2014)
  • Children's National Medical Center/George Washington University Program, Pediatrics (2011)
Fellowships:
  • University of Colorado (Children's Hospital Colorado) Program, Epilepsy (2015)
Department: Pediatrics-Neurology
Contact Us
CU Anschutz
Fitzsimons Building

13001 East 17th Place
Campus Box C290
Aurora, CO 80045

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