Glut1 Deficiency Foundation
  • Home
  • About Glut1 Deficiency
    • What is Glut1 Deficiency?
    • Key Terms in Glut1 Deficiency
    • About the Ketogenic Diet
    • Newly Diagnosed
    • Research >
      • Research News >
        • Research Grant Program >
          • Research Grant Award Recipients
      • Recent Publications
      • Patient Registry
    • Resources >
      • Cognition and Learning
      • Videos
      • Resource List
      • Family Recommended Specialists
      • Patient Stories >
        • Stories >
          • Emily
          • Bobby
          • Lilly
          • Allison
          • Katie
          • Tessa
          • Justin
          • Whitney
          • Ryan
          • Erik
          • Pattygrace
          • Chris
          • Sam
          • Collette
          • Phil
          • Joshua
          • DeAndre
          • Matt
          • Jayden
          • Brittany
          • Macie
          • Braden
          • Dalton
          • Jordan
          • Joelle
          • Sabrina
          • Thomas
          • Haley
          • Reed
          • Ben
          • Parys
          • Ronnie-Louise
          • Colin
          • Nathan
          • Lee
          • Dominic
          • Raina
          • Dylan
          • Brayden
          • Elli
          • Jacob
          • Rian
          • Hailey
          • Olivia
          • Addie
          • Drake
        • Share Your Story
      • Materiales en Español
    • Brochures
  • About G1DF
    • About the Foundation
    • Leadership Team
    • Medical Advisory Board
    • Scientific Advisory Board
    • Educational Events and Exhibits
    • Ways to Help
  • News
    • COVID-19
    • CZI Rare As One
    • Foundation Newsletters >
      • Fall 2020
      • Summer 2020
      • Spring 2020
      • Winter 2020
      • Fall 2019
      • Summer 2019
      • Spring 2019
      • Winter 2019
      • Fall 2018
      • Summer 2018
      • Spring 2018
      • Winter 2018
      • Fall 2017
      • Summer 2017
      • Spring 2017
      • Winter 2017
  • Conferences and Events
    • Conferences
    • 2021 Conference - San Diego
    • Glut1 Gatherings on Zoom
  • Get Involved
    • Family and Professional Networks
    • Volunteer Network
    • UTSW Surveys
    • Sign Up for Our Mailing List
    • Ways to Give
    • Shop to Support
    • Donate
    • Love Some1 with Glut1 >
      • 2021 Love Some1 video
      • 2021 Love Some1 with Glut1
    • Million Dollar Bike Ride
    • Fundraising >
      • Fundraising Help
      • Host a Fundraiser
  • Donate

Medical Advisory Board

Picture
full bio
Mackenzie C. Cervenka  MD
Associate Professor of Neurology
Medical Director, Epilepsy Monitoring Unit
Medical Director, Adult Epilepsy Diet Center
Department of Neurology, Meyer 2-147
Johns Hopkins Hospital
600 North Wolfe Street
Baltimore, Maryland  21287
Tel: 443-287-0423      
​Email:  mcerven1@jhmi.edu
Picture
full bio
Darryl C. De Vivo  MD
Founding Director of the Colleen Giblin Research
Laboratories for Pediatric Neurology
The Neurological Institute of New York
Columbia University Irving Medical Center
710 West 168th Street, Suite 201
New York, New York  10032-3784
Tel: 212-305-5244    
​Email: dcd1@columbia.edu
Picture
full bio
Kristin Engelstad  MS, CGC
Genetic Counselor and Clinical Coordinator
Department of Neurology
Columbia University Irving Medical Center
NI 2nd Floor
710 W. 168th St
New York City, NY  10032
Tel:  212-305-6834  
​Email: ke4@columbia.edu
Picture
full bio
Prof. Dr. Jörg Klepper
Children’s Hospital Aschaffenburg
Klinik für Kinder und Jugendmedizin
Am Hasenkopf; D-63739
Aschaffenburg, Germany
Tel: 49-6021-32-3601
Email: joerg.klepper@klinikum-aschaffenburg.de
Picture
full bio
Eric H. W. Kossoff   MD
Associate Professor, Neurology and Pediatrics
Medical Director, Johns Hopkins Ketogenic Diet Center
Suite 2158 – 200 North Wolfe Street
Johns Hopkins Hospital
Baltimore, Maryland 21287
Tel: 410-955-4259   
​Email: ekossoff@jhmi.edu
Picture
full bio
Juan Pascual   MD, PhD
Director and Principal Investigator
Rare Brain Disorders Program
UT Southwestern Medical Center
5323 Harry Hines Boulevard
Dallas, Texas  75390-8813
Tel: 214-645-8300     
​Email:  juan.pascual@utsouthwestern.edu
Picture
full bio
Toni Pearson   MBBS, MD
Associate Professor, Neurology
Medical Director, Cerebral Palsy Center
Washington University School of Medicine
660 South Euclid Avenue   
​Campus Box 8111
Saint Louis, MO 63110
Tel: 314-454-6120   
​Email: 
tpearson@wustl.edu
Picture
full bio
Prof. Dr. Michèl Willemsen
Radboud University Medical Center
Amalia Children's Hospital

Expert Centre for Genetic Movement Disorders
Department of Pediatric Neurology
PO Box 9101    6500 HB
Nijmegen, The Netherlands
Email:  michel.willemsen@radboudumc.nl
Picture
full bio
Beth Zupec-Kania   RDN, CD
Ketogenic Therapies, LLC
Consultant to The Charlie Foundation for Ketogenic Therapies
www.bethzupeckania.com

Member Bios

Mackenzie Cervenka  MD
​Dr. Cervenka is an Associate Professor of Neurology at Johns Hopkins University School of Medicine. She completed her undergraduate studies at the University of Virginia and received her medical degree from the University of Virginia School of Medicine. She then completed her internship in internal medicine and residency in neurology at the University of Maryland Medical Center. Dr. Cervenka completed a 2 year fellowship in epilepsy and clinical neurophysiology at Johns Hopkins and has remained there on faculty in the Epilepsy Division since 2010. She is Medical Director of the Johns Hopkins Adult Epilepsy Diet Center and the Epilepsy Monitoring Unit. The Adult Epilepsy Diet Center is the first of its kind, providing ketogenic diet therapies to adults with intractable epilepsy including Glut1 Deficiency syndrome and smoothly transitioning children from a pediatric to a comprehensive adult diet center.  Dr. Cervenka’s research focuses on the efficacy of ketogenic diets in the treatment of adults with epilepsy and refractory status epilepticus.
​
Darryl De Vivo  MD
Dr. De Vivo is the Sidney Carter Professor of Neurology, Professor of Pediatrics, and Director Emeritus (1979-2000) of the Pediatric Neurology Service at Columbia University Medical Center in New York City. Dr. De Vivo received his MD Degree from the University of Virginia Medical School. Residency training in Medicine, Pediatrics, Neurology and Pediatric Neurology followed at Harvard, National Institutes of Health and Washington University. He then joined the Medical School Faculty at Washington University and over the next decade was promoted from Assistant Professor to Professor as he developed his clinical research skills in neurochemistry, metabolic diseases and neuromuscular disorders. He joined the Columbia University Faculty in 1979 as the Sidney Carter Professor of Neurology and Pediatrics and Director of the Pediatric Neurology Service. Currently he continues to fulfill his duties as Founding Director, Colleen Giblin Research Laboratories; Founding Director, Pediatric Neuromuscular Disease Center, Co-Director of the Center for Motor Neuron Biology and Diseases (MNC) and Associate Chairman (Neurology) for Pediatric Neurosciences. Dr. De Vivo was a Director for Neurology and President of the American Board of Psychiatry and Neurology, Secretary of the American Academy of Neurology, and President of the Child Neurology Society. He has published more than 500 original articles and reviews, lectures extensively in the U.S. and abroad, serves on several editorial boards and advisory committees, and is a former associate editor for Rudolph’s Textbook of Pediatrics. He is a current editor of “Neuromuscular Disorders in Infancy, Childhood and Adolescence: A Clinician’s Approach”, recognized as the standard reference in the field. Dr. De Vivo receives funding from the NIH, DOD, SMA Foundation, MDA, Hope for Children Research Foundation, Milestones for Children, Glut1 Deficiency Foundation and the Will Foundation. He serves as the Director for the PNCR Clinical Trials Network for SMA and he oversees several other sponsored clinical trials involving rare diseases such as MELAS, spinal muscular atrophy, muscular dystrophy and Glut1 Deficiency.

Kristin Engelstad  MS, CGC
Kristin is a board certified genetic counselor at Columbia University. She has a long history of involvement with natural history studies and clinical trials for patients with Glut1 Deficiency Syndrome. She is also involved with various clinical studies in mitochondrial disorders. In addition, Kris provides genetic counseling services for the Columbia University Neuromuscular Clinic and for various clinical trials.
​
Prof. Dr. Jörg Klepper
Dr. Klepper is the Medical Director of Aschaffenburg Children’s Hospital in Aschaffenburg, Germany. Dr. Klepper’s clinical interests include disorders of brain energy metabolism such as Glut1 Deficiency and pyruvate dehydrogenase. His research interests include the mechanisms and adverse effects of the ketogenic diet on these disorders and establishing international protocols for the use of the ketogenic diet for epilepsy and metabolic disorders. Dr. Klepper earned his medical degree at Frankfurt/M and Würzburg University and completed his pediatric training at Würzburg and Essen University in Germany. He then completed his fellowship at Columbia University in New York City. In addition to his role at Aschaffenburg Children’s Hospital, Dr. Klepper serves as a consultant for pediatric neurology at Essen University and a lecturer on pediatrics at Essen University and Würzburg University. He is a board member of the Neuropaedriatric Society and a member of the German Paediatric Society.
​
Eric Kossoff  MD
Dr. Kossoff is a Professor of Neurology and Pediatrics at Johns Hopkins University in Baltimore, Maryland. He received his medical degree from SUNY at Buffalo School of Medicine in New York, followed by a residency in pediatrics at Eastern Virginia Medical School in Norfolk, Virginia. He completed a fellowship in child neurology and then pediatric epilepsy at  Johns Hopkins Hospital in Baltimore. He has been at Johns Hopkins for over 20 years, since 1998. His research and clinical practice focuses on the diagnosis and treatment of childhood seizures and epilepsy, particularly treatments other than medications such as diet, neurostimulation and surgery. Currently the Medical Director of the Pediatric Ketogenic Diet Center at Johns Hopkins, Dr. Kossoff is one of the world experts on ketogenic dietary therapy for neurologic disorders and developed the Modified Atkins Diet for children and adults in 2003. He is dedicated to bringing the use of diet therapies for neurologic disorders to the entire world and was recently the leader of a Task Force within the International League Against Epilepsy to help achieve this goal. He is a coauthor of The Ketogenic and Modified Atkins Diets: Treatments for Epilepsy and Other Disorders, now in its 6th edition, and helped organize both the 2008 and 2018 expert consensus guidelines on ketogenic diet management. Dr. Kossoff is also very involved in teaching and mentorship, and is the Director of the Child Neurology Residency Program at Johns Hopkins.
​
Juan Pascual  MD, PhD
Dr. Pascual is the inaugural Once Once Upon a Time Foundation Professor in Pediatric Neurologic Diseases and the Ed and Sue Rose Distinguished Professor in Neurology. He is a tenured professor in four Departments at the University of Texas Southwestern Medical Center at Dallas: Neurology and Neurotherapeutics, Physiology, Pediatrics and the Eugene McDermott Center for Human Growth & Development /Center for Human Genetics, and is Director of the Rare Brain Disorders Program (Clinic and Laboratory). He is also a member of the Division of Pediatric Neurology, of the graduate PhD programs in Neuroscience and Integrative Biology, and of the postgraduate clinical training programs in Neurology, Pediatric Neurology, Pediatrics and Medical Genetics. He also teaches at the UT Southwestern Medical School. In addition, Dr. Pascual is an adjunct professor in the Department of Biological Sciences at the School of Natural Sciences and Mathematics, The University of Texas at Dallas. Dr. Pascual directs a highly collaborative research laboratory and is credentialed campus-wide at Children’s Medical Center Dallas, UT Southwestern University Hospitals and Clinics and Parkland Memorial Hospital, where he consults on inpatients and outpatients with particularly complex or severe diseases. Much of his research is funded by the National Institutes of Health. Dr. Pascual received his MD degree from the Universidad de Granada, Spain. He received his PhD in Molecular Physiology and Biophysics from Baylor College of Medicine in Houston, Texas, under Arthur M. Brown, MD, PhD, McCollum Professor and Chair. His postdoctoral research was conducted under Arthur Karlin, PhD, Higgins Professor and Director of the Center for Molecular Recognition, College of Physicians and Surgeons of Columbia University and, later, at the Colleen Giblin Research Laboratories for Pediatric Neurology at the same institution under a Neurological Sciences Academic Development Award from the National Institute of Neurological Disorders and Stroke. He also received residency training in Pediatrics at Washington University School of Medicine - St. Louis Children’s Hospital and in Neurology and Pediatric Neurology at the Neurological Institute of New York - Columbia University Medical Center. He received certification in Neurology with Special Qualification in Child Neurology from the American Board of Psychiatry and Neurology. As one of few actively practicing pediatric neurologists in the nation who is also a laboratory scientist, Dr. Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance (MRI) both in human subjects and in models of human diseases. His laboratory is located in the newest biomedical research building (NL) at UT Southwestern and is an integral part of the Department of Neurology and Neurotherapeutics.  The laboratory is home to scientists from very broad backgrounds and levels of training and expertise who have joined efforts to endow both pediatric neurology and human developmental neuroscience with a strong scientific basis. As a clinician, Dr. Pascual specializes in genetic and metabolic diseases of the nervous and neuromuscular systems of infants, children and adults with a particular emphasis on complex diagnostic problems, second opinions for patients visiting from the rest of the U.S. and abroad, and in clinical trials. Dr. Pascual has special clinical research expertise in rare diseases, glucose metabolism, mitochondrial, degenerative, and multi-organ disorders. Dr. Pascual has co-authored over three dozen scientific, medical and philosophical textbooks. He is the editor, together with Dr. Roger Rosenberg of Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease (5th edition, Academic Press, 2015; 6th edition in preparation). His textbook Progressive Brain Disorders in Childhood (Cambridge
University Press) was published in 2017. An avid reader, speaker and humanist, Dr. Pascual is also interested in the philosophy of mind. He is particularly concerned with the proper study of the unique concepts that define the human condition. He is a member of the North Texas Bioethics Network, tasked with enhancing community service, promoting public and professional education and increasing collaborative opportunities for research, teaching and contributions to the literature in the field of bioethics. Dr. Pascual has no interest in – nor is he sponsored by – any business that conducts medical research or
lobbies for financial gain.

Toni Pearson  MBBS, MD
Dr. Pearson is a pediatric neurologist who specializes in movement disorders. She obtained her medical degree from the University of Adelaide Medical School in Australia, and then pursued postgraduate residency and fellowship training in child neurology and movement disorders at Columbia University in New York. She currently directs the program for Pediatric Movement Disorders and Cerebral Palsy at Washington University and St. Louis Children’s Hospital where she also serves as an Associate Professor in Neurology.

Prof. Dr. Michèl Willemsen
Dr. Willemsen completed medical school and his residencies in pediatrics, pediatric neurology, and adult neurology at Radboud University Medical Center in Nijmegen, The Netherlands. He has been a professor of Pediatric Neurology at Radboud since 2012 where he also serves as the head of the Pediatric Neurology Department and the head of Radboud UMC Expert Centre for Genetic Movement Disorders.  His fields of clinical and research interest include pediatric movement disorders, neurometabolic and neurodegenerative disorders, especially Sjögren-Larsson syndrome, Ataxia Telangiectasia, Glut1 Deficiency Syndrome, and neurotransmitter biosynthesis defects.  Academic teaching contributions include international courses and research focused on the same disorders, leading to numerous publications. Dr. Willemsen is a member of the board of the Dutch Society of Pediatric Neurology, the European Pediatric Neurology Society, and the International Child Neurology Congress. He is a member of many other international organizations on pediatrics, neurology and inborn errors of metabolism; local and national committees on health issues linked to pediatrics and pediatric neurology; and scientific boards of international congresses. He is a member of the editorial boards of the European Journal of Pediatric Neurology, Neuropediatrics, and Developmental Medicine and Child Neurology. 
​
Beth Zupec-Kania  RDN, CD
Beth is a world-renowned ketogenic expert, clinician, and speaker. She is a registered and certified dietitian and nutritionist. For over 25 years, she has coached medical professionals, patients and families through safe and effective use of nutritional ketosis for neurological disorders, certain cancers and other metabolic based conditions that require careful formulation and laboratory surveillance.  Alongside her private practice, she is the primary consultant for the Charlie Foundation. Her work is about health and hope.



Join OUr Networks

Picture
Picture
Picture

Picture

Glut1 Deficiency Foundation
PO Box 737 
Owingsville, KY 40360    
​info@G1DFoundation.org
​
Contact Us

​​Resources and information on this website are not intended as medical care or advice.
​​Please consult with your healthcare provider.
Picture
Mailing List
​
Shop to Support
Privacy Policy
Terms of Use

Cookie Statement
                    

Picture
Picture
Picture
Picture
Picture
Picture

Copyright © 2021 Glut1 Deficiency Foundation
  • Home
  • About Glut1 Deficiency
    • What is Glut1 Deficiency?
    • Key Terms in Glut1 Deficiency
    • About the Ketogenic Diet
    • Newly Diagnosed
    • Research >
      • Research News >
        • Research Grant Program >
          • Research Grant Award Recipients
      • Recent Publications
      • Patient Registry
    • Resources >
      • Cognition and Learning
      • Videos
      • Resource List
      • Family Recommended Specialists
      • Patient Stories >
        • Stories >
          • Emily
          • Bobby
          • Lilly
          • Allison
          • Katie
          • Tessa
          • Justin
          • Whitney
          • Ryan
          • Erik
          • Pattygrace
          • Chris
          • Sam
          • Collette
          • Phil
          • Joshua
          • DeAndre
          • Matt
          • Jayden
          • Brittany
          • Macie
          • Braden
          • Dalton
          • Jordan
          • Joelle
          • Sabrina
          • Thomas
          • Haley
          • Reed
          • Ben
          • Parys
          • Ronnie-Louise
          • Colin
          • Nathan
          • Lee
          • Dominic
          • Raina
          • Dylan
          • Brayden
          • Elli
          • Jacob
          • Rian
          • Hailey
          • Olivia
          • Addie
          • Drake
        • Share Your Story
      • Materiales en Español
    • Brochures
  • About G1DF
    • About the Foundation
    • Leadership Team
    • Medical Advisory Board
    • Scientific Advisory Board
    • Educational Events and Exhibits
    • Ways to Help
  • News
    • COVID-19
    • CZI Rare As One
    • Foundation Newsletters >
      • Fall 2020
      • Summer 2020
      • Spring 2020
      • Winter 2020
      • Fall 2019
      • Summer 2019
      • Spring 2019
      • Winter 2019
      • Fall 2018
      • Summer 2018
      • Spring 2018
      • Winter 2018
      • Fall 2017
      • Summer 2017
      • Spring 2017
      • Winter 2017
  • Conferences and Events
    • Conferences
    • 2021 Conference - San Diego
    • Glut1 Gatherings on Zoom
  • Get Involved
    • Family and Professional Networks
    • Volunteer Network
    • UTSW Surveys
    • Sign Up for Our Mailing List
    • Ways to Give
    • Shop to Support
    • Donate
    • Love Some1 with Glut1 >
      • 2021 Love Some1 video
      • 2021 Love Some1 with Glut1
    • Million Dollar Bike Ride
    • Fundraising >
      • Fundraising Help
      • Host a Fundraiser
  • Donate