Scott Demarest, MD
Assistant Professor, Pediatrics-Neurology

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Medical School:
  • MD, The University of Texas School of Medicine at San Antonio (2009)
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 impact of genetics on a patient's unique form of epilepsy.

Teaching

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

Publications

  • 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)
  • 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 its many comorbidities.

General Information

Medical Schools:
  • MD, The University of Texas School of Medicine at San Antonio (2009)
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
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