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The Division of Child Neurology represents an academic practice with commitment to patient care, teaching and research.

Formed in the 1980s as part of the Department of Neurology, the Division maintained a successful academic and training program through the 1990s. Dr. Berge Minassian became the Division Chief in 2016, and the Division has been a part of the Department of Pediatrics since 2006.

Under Dr. Minassian’s direction, the Division provides comprehensive diagnosis and management for children at Children’s Health from newborn to late adolescence who have disorders of the brain, spinal cord, nerve, or muscle. Faculty members specialize in providing neurological care, consultations, and second opinions for children afflicted by virtually any neurological disorder.

Division faculty conduct a variety of neurologic bench/basic research and clinical studies, including clinical trials. Current studies are focused in ten main areas:

Gene therapy

Movement Disorders

Metabolic disorders of the nervous system

Neuromuscular disease clinical trials

Anti-epileptic drug trials

Clinical trials in pediatric stroke

Clinical studies in the autism spectrum

Neuroimaging studies in pediatric movement disorders

Clinical Trials in Pediatric Migraine

Concussion Recovery utilizing cerebrovascular functioning

It is a priority in the Division to maintain a competitive Child Neurology (CN) Training Program and Neurodevelopmental Disabilities (NDD) Training Program that will supply high-quality faculty for many years to come. Together with the Department of Neurology & Neurotherapeutics, the division offers:

a three-year Child Neurology Residency Program (including a “Categorical” 5-year program, with 2-years preliminary UT Southwestern Pediatrics residency),

a four-year Neurodevelopmental Disabilities Residency Program (including a “Categorical” 6-year program, with 2-years preliminary UT Southwestern Pediatrics residency),

fellowship training in many pediatric neurology subspecialties, including Clinical Neurophysiology, Epilepsy, Fetal and Neonatal Neurology, Headache Medicine (with optional Sports Neurology track), Neuromuscular Medicine and Vascular Neurology

Each year, in collaboration with the Departments of Pediatrics and Neurology and Neurotherapeutics at UT Southwestern, Children's Health™, Texas Scottish Rite Hospital for Children, and the Muscular Dystrophy Association, the Division presents the Carrell-Krusen Neuromuscular Symposium for muscular dystrophy clinic directors, case managers, nurses, and members of interdisciplinary care teams. Dr. Iannaccone directs the symposium, and most residents and fellows from the Division of Pediatric Neurology and from the Department of Neurology and Neurotherapeutics present at the Symposium.

The Division of Pediatric Neurology hosts the New Frontiers in Pediatric Neurology Symposium in collaboration with UT Southwestern and Children's Health™, covering updates in the field of Pediatric Neurology. This is a one-day CME event for Pediatric Neurology physicians, advanced practice providers, residents and fellows. Drs. Castro, Golla and Sirsi direct the Symposium.

Berge Minassian, M.D. Professor, Division Chief

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The Pediatric NeuroConcussion Clinic, led by Medical Director Dr. Tonia Sabo, is the leading clinical enrolling site for the UTSW North Texas Concussion Registry (ConTex) which is a multicenter, prospective longitudinal registry for concussion established in 2015.

The Clinical Pediatric NeuroConcussion Program has expanded greatly in capacity to diagnose, treat and help youth with mild traumatic brain injury (mTBI) from sports and non-sports causes. The program recently moved operations to the newly opened Children’s Health Pediatric Multispecialty Center at Cityville that offers the latest in diagnostic and treatment capabilities for clinical care and includes specialized testing equipment, nursing, social work, school services and rehabilitative services. Medical student and resident education in these facilities allows proper training in safe “Return to Play” and current Neurological published standards for concussion management.

The Pediatric Headache Program offers an unparalleled clinical and academic program in the Southwest under the leadership of Pediatric Headache Fellowship Director, Dr. Tonia Sabo and is now training its third Pediatric Headache fellow, with a newly developed Sports Neurology track. Dr. Eric Remster, the first graduate of the Pediatric Headache Fellowship, recently joined the Pediatric Headache faculty and is involved with the ongoing clinical research studies in the Division that includes a Quality Initiative Care Pathway for Headache and a Pseudotumor database initiative. The clinical Pediatric Headache Program, which is also located in the Cityville Center, has capabilities of urgent headache care to help keep patients out of the Emergency Department and for procedures such as nerve blocks and botulinum therapy. Currently, the Headache Group is enrolling patients in a clinical trial to evaluate migraine therapy in children ages 5-11.

Faculty

The Division has 26 faculty members, four with a major commitment to research and all focused on clinical and teaching responsibilities. They represent a mix of young and mature individuals, each of whom brings special talents and experience that promise to contribute to further growth and development of the Division. Six faculty joined the Division in 2019.

Dallas Armstrong, M.D. Assistant Professor, Pediatrics and Neurology & Therapeutics

B.A. UT Austin, 2007 M.D. UT Health Science Center, Houston, 2009 Postdoctoral Training Residency, Pediatrics Drexel University School of Medicine/St. Christopher’s Hospital for Children, Philadelphia, PA, 2011 – 2013 Residency, Neurology/Child Neurology (Chief Resident – 2015-2016) UT Southwestern, 2013 – 2016

Fellowship, Epilepsy and Clinical Neurophysiology The Children’s Hospital of Philadelphia, PA, 2016 – 2017 Fellowship, Advanced Clinical Epilepsy The Children’s Hospital of Philadelphia, PA, 2017 – 2018 Interests Dallas Armstrong, M.D. is a neurologist interested in epilepsy.

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Michelle Christie, M.D. Assistant Professor, Pediatrics and Neurology & Neurotherapeutics

B.S. UT Austin, 2006 M.D. University of Texas Medical School at Houston, Houston, TX, 2011 Postdoctoral Training Residency, Pediatric Neurology (Chief Resident 2016) UT Southwestern, 2015 – 2016 Fellowship, Neurophysiology UT Southwestern, 2016 – 2017 Interests Michelle Christie, M.D., is a neurologist and neurophysiologist at Texas Scottish Rite Hospital

for Children.

Meagan Hainlen, M.D. Assistant Professor, Pediatrics and Neurology & Neurotherapeutics

B.S. Olivet Nazarene University, Bourbonnais, IL, 2007 M.D. Indiana University School of Medicine, Indianapolis, IN, 2011 Postdoctoral Training Residency, Pediatrics Baylor College of Medicine/Texas Children’s Hospital, 2011 – 2013 Residency, Child Neurology, Neurodevelopmental Disabilities Baylor College of Medicine/Texas Children’s Hospital, 2013 – 2017 Interests Dr. Hainlen has experience in the care of children with chronic and neurodegenerative conditions and palliative care. She is interested in epilepsy camp and transition care.

Michelle Machie, M.D. Assistant Professor, Pediatrics and Neurology & Neurotherapeutics B.S. University of Texas at Austin, Austin, TX, 2009 M.D. UT Southwestern, 2013 Postdoctoral Training Residency, Pediatrics UT Southwestern, 2013 – 2015 Residency, Child Neurology UT Southwestern, 2015 – 2018 Fellowship, Fetal and Neonatal Neurology UT Southwestern, Dallas, TX, 2018-2019

Interests Dr. Machie is experienced in caring for critically ill neonates with neurological disorders including hypoxic ischemic encephalopathy, congenital brain malformations, and preterm infants at risk for neurodevelopmental impairment or cerebral palsy. She has a clinical research interest in the use of advanced imaging techniques to better predict neurodevelopmental outcomes after perinatal brain injury. Dr. Machie is board certified in Child Neurology.

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Sarah Sinnett, Ph.D. Assistant Professor, Pediatrics

B.S. Massachusetts Institute of Technology, Cambridge, MA, 2008 Ph.D. University of North Carolina, Chapel Hill, NC, 2014 Interests

Dr. Sinnett has experience developing and assessing gene therapies for the pre-clinical

treatment of Rett Syndrome (RTT). Dr. Sinnett has a broader interest in optimizing gene

therapies for the treatment of gene dose-sensitive neurodevelopmental disorders.

Mathew Stokes, M.D. Assistant Professor, Pediatrics and Neurology & Neurotherapeutics

B.S. Brigham Young University, Provo, UT, 2009 M.D. UT Southwestern, Dallas, TX, 2013 Postdoctoral Training Residency, Child Neurology UT Southwestern, Dallas, TX, 2013-2018 Fellowship, Pediatric Headache (Sports Neurology Track) UT Southwestern, Dallas, TX, 2018-2019 Interests Dr. Stokes has experience in caring for athletes who have neurologic disorders, particularly concussion and headache. His clinical research interests focus on concussion, including

autonomic dysfunction following concussion, epidemiology, and the role of neuroimaging in concussion evaluation and treatment. Dr. Stokes is currently board certified in Neurology with Special Qualification in Child Neurology and is board eligible for Headache Medicine

Honors / Awards

Best Pediatric Specialists, D Magazine

Susan Arnold

Diana Castro

Alison Dolce

Michael Dowling

Rana Said

Texas Super Doctor, Texas Monthly

Susan Iannaccone

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Rachel Bailey

Swim with the Sharks! – A Team Science Pilot Grant Competition

Michael Dowling

Pediatric Neurology Resident Teaching Award “Golden Boots”

Kim Goodspeed

NeuroNEXT 2018-2019 Early Stage Investigator

Swim with the Sharks! – A Team Science Pilot Grant Competition

Tonia Sabo

Promotion to Associate Professor

Rana Said

Promotion to Professor

Fellow of the American Academy of Neurology (FAAN), April 2019

Outstanding Teaching Award by the MS-2022 class, UT Southwestern, November 2019

Invited Lectures

Rachel Bailey

Giant Axonal Neuropathy Meeting 2019, Bethesda, MD Presentation, “Update on GAN rat model and vagal nerve targeting”

Epilepsy Precision Medicine Conference 2019, Washington, DC, September 2019 Presentation, “Widespread Viral Gene Delivery to the Brain towards Clinical Applications”

American Epilepsy Society 2019 Annual Meeting, 2019, Baltimore, MD Presentation, “Investigators workshop: Gene therapy for developmental epileptic encephalopathies”

Xin Chen

Preclinical AAV9/AP4M1 Gene Therapy for SPG50 Disease. Cure AP-4 Research Conference and Family Meet-Up (11/2019). Boston, MA

Preclinical AAV9/AP4M1 Gene Therapy for SPG50 Disease. Cure AP-4 Research Conference and Family Meet-Up

(11/2019). Boston, MA

Preclinical AAV9/AP4M1 Gene Therapy for SPG50 Disease. Cure AP-4 Research Conference and Family Meet-Up

(11/2019). Boston, MA

Preclinical AAV9/AP4M1 Gene Therapy for SPG50 Disease. Cure AP-4 Research Conference and Family Meet-Up

(11/2019). Boston, MA

Michael Dowling

Department of Pediatrics, Multidisciplinary Clinical Conference, March 2019 o “Sometimes, It’s a Zebra…(Presentation on a Child with Menke’s Syndrome)”

Galeries d’Anatomie Comparée et de Paléontologie SMU Abroad Program, Paris, France, June 2019 o “Evolution and the Enlightenment”

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Patricia Evans

Texas Neurology Annual Seminar, Irving, TX, September 2019 o “Review of Autism Spectrum Disorder”

2019 Patricia d William L. Watson Award for Excellence in Clinical Medicine nominee 2019 UT Southwestern Medical Center

2019 Texas Top Doctor

Steven Gray

Medical Innovations Collaborative Symposium, Fort Worth, TX, March 2019 o “The Forever Fix: How Gene Therapy is Bringing New Hope for Untreatable Diseases”

2nd Asia Pacific Lysosome Storage Disease Conference, Auckland, NZ, February 2019 o “Gene therapy for Lysosomal Diseases”

Susan Iannaccone

Texas Neurological Society Annual Meeting, Austin, TX, February 2019 o “Spinal Muscular Atrophy, A Changing Phenotype”

Department of Pediatrics, Multidisciplinary Clinical Conference, September 2019 o “It’s as Easy as ABCDE: Caring for Children with Neuromuscular Disorders in the PICU”

Rana Said

New Frontiers in Pediatric Neurology Symposium, UT Southwestern, May 2019

o Keynote Speaker: “The State of Medical Education in the Time of Mandated Joy”

Pediatric Grand Rounds, UT Southwestern, May 2019 o “Cannabidiol in Epilepsy: Seize the Day”

American Academy of Neurology Annual Meeting, Philadelphia, PA, May 2019 o Invited AAN Medical Student Ambassador o Navigating Your Career, “Child Neurology for Trainees” o “Negotiation Skills/Conflict Resolution” o “Child Neurology Program Director expert”

Haltalin Pediatric Seminar, Gaylord Texan, Grapevine, TX, June 2019

o “Cannabidiol in Epilepsy: Seize the Day”

Education Committee Meeting, American Academy of Neurology, Minneapolis, MN, September 2019 o Education Committee Scorecard Brainstorming

3rd Scientific Workshop of Ring 14 Syndrome, Brescia, Lombardi Region, Italy, October 2019 o “Management Approach to Treatment of Epilepsy Associated with Ring Chromosome 14”

American Epilepsy Society Annual Meeting, Baltimore, MD, December 2019 Roundtable Discussion Panel, “New Developments in NORSE and Brainstorming Protocols for Clinical Assessment, Treatment and Bio-Specimen Collection for NORSE”

Jennifer Thomas

Department of Pediatrics Multidisciplinary Conference, February 2019 o “Fungi Are Not Always Fun Guys in the Airways”

Texas Health System Neonatal Symposium, Dallas, TX, 2019 o “Neonatal Seizures”

Department of Pediatrics, Multidisciplinary Clinical Conference, November 2019 o “An Infant with Apnea and Neurologic Impairment. Is it Something New?”

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Cynthia Wang

Children’s Autoimmune Brain Disorders Association Community Meeting, Dallas, TX, 2019 o Presentation and Q&A

Jeff Waugh

3rd Movement Disorders Society-PAS School for Neurology Residents, Grapevine, TX, Oct 2019 o “Pediatric Movement Disorders: Case Presentations”

AAN Fall Conference, invited lecturer, “Practice Management I: Coding for Complex and Chronic Patients”, Oct 2019

Neurology Grand Rounds, UTSW, "What can diffusion imaging teach us about dystonia?", Oct 2019

Conference Presentations

15th Annual WORLD Symposium, Orlando, FL, February 2019

Lutz C, Presna M, Davis C, Cook J, Walls R, Burgess R, Bailey RM, Gray SJ Poster Presentation, “Preclinical gene therapy in a mouse model of Charcot-Marie-Tooth Disease Type 4J”

Bailey RM, Presna M, Lutz C, Gray SJ Poster Presentation, “Development of scAAV9/SUMF1 gene therapy for Multiple Sulfatase Deficiency”

Other Conferences Bailey RM, Presna M, Lutz C, Gray SJ American Society for Gene and Cell Therapy 22nd Annual Meeting, Washington D.C., May 2019 Platform Presentation, “Intrathecal scAAV9/SUMF1 gene therapy for Multiple Sulfatase Deficiency“ Lutz C, Presna M, Davis C, Cook J, Burgess R, Bailey R, Presna M, Lutz C, and Gray S

American Society for Gene and Cell Therapy 22nd Annual Meeting, Washington D.C., May 2019 Platform Presentation, “Pre-Clinical gene therapy in a mouse model for Charcot-Marie-Tooth Type 4J” Burgess R, Morelli K, Presa M, Bogdanik L, Bailey R, Gray S, Pyne N, Wallace L, Fowler A, Harper S, Lutz C

PNS Annual Meeting, Genoa, Italy, June 2019 Poster Platform Presentation, “Pre-Clinical gene therapy in a mouse model for Charcot-Marie-Tooth Type 4J” Bergman I, Garza I, Bailey R

UT Southwestern AMGEN/SURF Poster Session, Dallas, TX, August 2019 Poster Presentation, “Synthesizing microRNA shuttles that target and reduce the expression of tau” Stokes M, Do Val L, Hurd A, and Remster E Headache Cooperative of the Pacific Winter Meeting, Ojai, CA, January 2019 Poster Presentation, “Idiopathic Intracranial Hypertension: Epidemiology, Etiology, Evaluation and Management Based on a Retrospective Case Series at an Academic Center”

Sguigna P, Bonnet W, Yu A, Sirsi D, Greenberg B. American Academy of Neurology Annual Meeting, Toronto, Ontario, Canada, May 2019 Poster Presentation, “Bartonella Papillitis Mimicking Anti-MOG Optic Neuritis”

Michael Dowling Second Annual Aspen Conference on Pediatric Stroke and Cerebrovascular Disease and Stroke, Aspen, CO, July 2019 Moderator, Stroke Fellow Presentations, “Acute Interventions for Pediatric Stroke”

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Education and Training

Dr. Patricia Evans is the Director of the Neurodevelopmental Disabilities (NDD) clinical and residency programs. The NDD residency is ACGME accredited, highly competitive, and one of only eight national. The NDD training program includes a combined 6-year “Categorical” program with 2 years of ACGME-accredited Pediatrics training and 4 years of ACGME-accredited Neurodevelopmental Disabilities training, based at Children’s Health℠ Dallas/UT Southwestern Medical Center. Graduates are eligible for the American Board of Pediatrics, the American Board of Psychiatry and Neurology with special qualifications in Child Neurology and the American Board of Psychiatry and Neurology in Neurodevelopmental Disabilities. The Neuromuscular Medicine program is an ACGME-accredited program that accepts one Pediatric track fellow per year. The Pediatric Neuromuscular Medicine faculty serve in a Site Director capacity for the Pediatric subspecialty fellow. Graduates are eligible for the American Board of Psychiatry and Neurology in Neuromuscular Medicine.

Dr. Tonia Sabo is the Director of the Pediatric Headache fellowship program. This program is TMB-approved and United Council for Neurologic Subspecialties (UCNS)-accredited program. This program accepts one fellow per year. Graduates are eligible for the United Council for Neurology Subspecialties board in Headache Medicine. There is a Sports Neurology track for interested candidates.

Dr. Rana Said is the Associate Director of Education for the division of Pediatric Neurology. She oversees all the training

programs of the division, including undergraduate medical education, the Child Neurology residency, the

Neurodevelopmental Disabilities residency and all fellowship programs. She also provides direct mentorship and support to

each of the Program Directors/Site Directors for each of these programs. In in her capacity as Program Director of the Child

Neurology Residency Program (core program) for the past 15.5 years, the program has grown considerably. The program

offers an ACGME-accredited 3-year training program, including a combined 5-year “Categorical” program with 2 years of

ACGME-accredited Pediatrics training and 3 years of ACGME-accredited Child Neurology training based at Children’s Health℠

Dallas/UT Southwestern Medical Center. The Program was approved by the ACGME in 2018 to increase complement to four

Child Neurology residents each year, making it one of the larger Child Neurology training programs in the nation. The program

continues to receive “Commended” status from the ACGME for the past review cycles. Graduates are eligible for the

American Board of Pediatrics and the American Board of Psychiatry and Neurology with special qualifications in Child

Neurology.

Dr. Deepa Sirsi is the Director of the Pediatric Epilepsy fellowship program. Graduates are eligible for the American Board of

Psychiatry and Neurology in Epilepsy.

Dr. Jennifer Thomas is the Director of the Fetal and Neonatal Neurology fellowship program. This is a Texas Medical Board (TMB)-approved program, which accepts one fellow per year, who has completed prior training in either Child Neurology or Neonatal-Perinatal Medicine.

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Research Activities

Division faculty conduct a variety of neurologic bench/basic research and clinical studies, including clinical trials. Current studies are focused in five areas:

Gene therapy

Movement Disorders

Metabolic disorders of the nervous system

Neuromuscular disease clinical trials

Anti-epileptic drug trials

Clinical trials in pediatric stroke

Clinical studies in the autism spectrum

Concussion recovery utilizing cerebrovascular functioning

Faculty research projects include:

Berge Minassian is an international authority on Lafora disease, a glycogen storage disorder of the brain with intractable and fatal epilepsy. His laboratory has uncovered large amounts of knowledge on the metabolism of glycogen in the brain. In addition, he is, with his colleague Dr. Gray and others of the faculty, building the premiere national Gene Therapy Center. The goal is a complete transformation of pediatric neurology whereby children with single gene defect brain diseases, as appropriate, would receive treatment in the form of replacing the missing gene.

Susan Arnold is involved in multiple industry-sponsored clinical research trials. In 2017, she was the site-principal investigator for three epilepsy clinical trials sponsored by UCB Pharma. She was also site principal investigator for a multi-center study of the pharmacokinetics of antiepileptic drugs in obese children funded by the National Institute of Child Health and Human Development. She has worked with Drew Thodeson on an evaluation of the utility of next generation gene sequencing in the evaluation and management of childhood epilepsy.

Rachel Bailey is the Principal Investigator and Co-Investigator of several research projects funded by private

foundations and industry. The main research areas are rare pediatric disorders, such as SLC13A5 deficiency and

Giant Axonal Neuropathy, and age-related neurodegenerative disorders including Alzheimer’s disease and

Frontotemporal Dementia. Dr. Bailey is working with clinicians within the Department of Pediatrics to initiate a

natural history study for SLC13A5 deficiency for clinical trial readiness for a gene therapy that she is developing for

this disorder. She is also developing unfunded projects in other areas, including collaborating with the Department

of Radiology to develop the use of focused-ultrasound to target viral based gene therapies to select regions of the

brain.

Diana Castro serves as the Principal Investigator and Co-Investigator of several research projects funded by industry and federal grants. The main research areas are Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. She is also developing unfunded projects in other areas including Guillain Barre Syndrome, myopathies and Myasthenia Gravis.

Xin Chen is the co-investigator of multiple research projects funded by private foundations, industry, and NIH to Dr. Steven Gray. Dr. Chen’s main research areas are Aspartylglucosaminuria, CLN7 Batten disease, SPG50 disease, SPG52 disease, SLC52A2 deficiency disease, and SRD5A3 deficiency disease. He is currently working to facilitate the initiation of gene therapy clinical trials for Aspartylglucosaminuria and CLN7 at UTSW. He is also helping in developing novel AAV capsids with superior efficacy, higher specificity, and less toxicity, supporting several projects in other laboratories and other institutions, and mentoring laboratory personnel.

Michael Dowling is involved in clinical research in the areas of stroke in children, Sturge-Weber syndrome, and neurologic complications of sickle cell disease.

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Dr. Patricia Evans is an active participant in translational research, both for the disorders of autism spectrum

disorders and fragile X syndrome. She is participating in a range of studies, including the genetics of autism

spectrum disorders, neurodevelopmental outcomes in children after extra-corporeal membrane oxygenation, and

mechanisms of fragile X syndrome cognitive deficits.

Kimberly Goodspeed is involved in clinical research of rare neurogenetic and neurodevelopmental disorders including Phelan-McDermid Syndrome and Pitt-Hopkins Syndrome. She is also heavily involved in the development of the UTSW Gene Therapy program, alongside Dr. Minassian and other faculty colleagues. She is the principal investigator for several gene therapy disease programs including clinical trial readiness studies for aspartylglucosaminuria, SLC6A1 Related Disorder, SLC13A5 Deficiency Disorder, and SRD5A3-CDG. Concurrently, she is completing a graduate certificate program in Clinical Sciences through the UTSW Center for Translation Medicine.

Steven Gray is the PI on several grant-funded projects. These include an NIH R01 grant to develop novel AAV

capsids for CNS gene transfer, an NIH R01 grant to understand and treat Giant Axonal Neuropathy, NIH funding to

test a gene therapy treatment for Krabbe disease, a sponsored research agreement from Abeona Therapeutics to

support the initiation of a Phase I clinical trial for CLN1 Batten disease, and a sponsored research agreement from

Neurogene to support the initiation of a Phase I clinical trial for Aspartylglucosaminuria. He also has funding from

several small foundations to support the development of gene therapy treatments for CLN7 Batten disease,

Multiple Sulfatase Deficiency, Rett syndrome, Angelman Syndrome, ATP1A3 Alternating Hemiplegia of Childhood,

SLC6A1 disease, Muccolipidosis type II, SPG50 disease, SLC52A2 disease, and Leigh Syndrome. Dr. Gray is actively

working to create a working core facility for research and clinical AAV manufacture, and also facilitate the initiation

of gene therapy clinical trials for multiple rare neurological diseases.

Susan Iannaccone has expanded the Pediatric Neuromuscular Clinical Trials Program (Pediatric NMCTP) that she started in 2005. She and the NM team are running 12 clinical trials for our patients with rare neuromuscular diseases including gene replacement therapy for Spinal Muscular Atrophy. Funding for studies in spinal muscular atrophy and Duchenne muscular dystrophy is largely through industry contracts making it possible for us to offer our patients access to state of the art and cutting-edge research. She is Associate Director of the Wellstone Muscular Dystrophy Center at UTSW for which the focus is gene editing for Duchenne muscular dystrophy.

Saima Kayani is involved in various research projects funded by industry and federal grants. Saima is acting in capacity of Principal Investigator and co-investigator of these research projects. The main research interests are rare neurodegenerative disorders and development of gene therapy programs for these disorders. These disorders include various neuro-metabolic disorders including energy metabolism disorders, lysosomal storage disorders and peroxisomal biogenesis disorders.

Tonia Sabo is involved in clinical industry related studies in Pediatric Headache. She is involved in faculty led research in Intracranial Hypertension. She is involved in Quality Initiative Research on the treatment of headache and she is the Children’s Medical Center Site Principal Investigator for the UTSW North Texas Concussion Registry (ConTex) which is a multicenter, prospective longitudinal registry for concussion established in 2015 that has enrolled over 900 patients to date. Dr. Sabo has been studying cerebrovascular recovery in concussed collegiate athletes. Currently, a new clinical trial focusing on treatment of pediatric migraine with triptan therapy started enrollment.

Rana Said is involved in multiple industry-sponsored clinical research trials. She is currently the Co-Principal Investigator working with Lauren Dengle, Daniel Bowers (Neuro-oncology), Elizabeth Maher (Internal Medicine), Rebekah Clarke (Neuroradiology) and Robert Bachoo (Neurology & Neurotherapeutics) in a study to assess a strict classic ketogenic diet for recurrent or progressive refractory brain tumors in children. This is a prospective study to assess not only response (anti-tumor effect to the ketogenic diet), but also the ability to achieve and maintain ketosis with a rigidly calculated and supervised classic ketogenic diet. We will also be assessing biomarkers of efficacy by screening for expression of enzymes that are critical for ketone metabolism in brain tumor samples. MR spectroscopy will also be utilized to evaluate the presence of certain metabolites in tumors that may serve as important biomarkers of tumor behavior and response to therapy. Rana Said is also involved with several medical education studies in conjunction with other members of the Education Committee of the American Academy of Neurology. She is also involved in clinical research on status epilepticus, refractory status epilepticus, new onset refractory status epilepticus (NORSE), and infantile spasms.

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Deepa Sirsi is involved in a range of clinical research studies concerning Electroencephalography, Genetic epilepsy

syndromes and industry funded anti-seizure medication studies. She collaborates with other clinicians and basic

scientists in research involving treatment of sodium channelopathies and other genetic causes of epilepsy such as

GLUT1 transporter deficiency syndrome.

Jennifer Thomas is involved in clinical research in the area of neonatal neurology. She is currently site co-principal investigator in a multi-center trial designed to study the efficacy of high dose erythropoietin for neuroprotection in term infants with hypoxic-ischemic encephalopathy, known as the HEAL trial.

Cynthia Wang is involved in a research project studying the longitudinal and neuropsychological outcomes of

patients with acute disseminated encephalomyelitis (ADEM). She is also involved in a study of biomarkers in

autoimmune brain disorders.

Jeff Waugh is involved in neuroimaging projects that utilize MRI to study the brain in patients with the movement disorder dystonia. In addition to these disease-related research projects, he develops novel methods for improving the accuracy of quantitative diffusion imaging and for identifying compartments within the human striatum in vivo that have previously been visualized only via post-mortem histology. Dr. Waugh collaborates with researchers and clinicians at the Harvard-MIT Martinos Center for Biomedical Imaging, Boston Children’s Hospital, the University of Lübeck in Germany and the University of Santo Tomas and the University of the Philippines, both in Manila, PH. He has current grant funding from the American Academy of Neurology and the Collaborative Center for X-linked Dystonia Parkinsonism.

Clinical Activities The Pediatric Neurology multidisciplinary teams include board-certified pediatric neurologists, pediatric nurse practitioners, physician assistants, genetic counselor, licensed pediatric nutritionists, occupational therapists, physical therapists and speech therapists. Our teams offer accurate diagnosis and comprehensive management plans as well as access to state-of-the-art clinical trials. Pediatric Neurology faculty treat:

Brain tumors

Cerebrovascular disease and stroke

Developmental delay

Neurobehavioral disorders and Autism

Neuroimmunologic disorders, such as Multiple Sclerosis

Neurologic complications of Sickle Cell Disease

Neurometabolic, neurogenetic and complex/rare diseases

Neuromuscular disorders, such as Muscular Dystrophy and Myasthenia Gravis

Movement disorders, such as dystonia, chorea, myoclonus, tremor, parkinsonism, and tics

Urgent epilepsy for new onset afebrile seizures

Neonates with neurological complications

Pediatric headache disorders including urgent headache treatment and intracranial hypertension

Pediatric mild traumatic brain injury including concussion diagnosis and Return-to-Play treatment plans

Center of Autism and Developmental Disabilities (CADD) The Center of Autism and Developmental Disabilities (CADD) is a multi-disciplinary center that provides assessment and management for children and adolescents who have autistic or severe developmental disabilities. CADD provides the integration of psychiatry, psychology, and neurodevelopmental disabilities specialists, as well as behavioral therapies. Dr. Patricia Evans serves as one of three clinical co-directors for the center. Dr. Kimberly Goodspeed directs the Phelan McDermid Syndrome and Pitt Hopkins Syndrome clinics, and participates in clinical trials for these rare syndromes. (Kim would you like to add any other information?) The center also houses a clinic for rare genetic variant Fragile X Syndrome.

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Comprehensive Epilepsy Center The Comprehensive Epilepsy Center at Children’s Medical Center, Dallas strives to provide excellence in all areas of epilepsy care. The physicians divide their time between patient care, epilepsy surgical procedures and interpretation of neurophysiology studies. Priorities are patient access, excellence in management of both straightforward and complex conditions, promotion of research and education, and community outreach to families and health care providers.

Access The Epilepsy Center continues to see patients at three CHST clinic locations in downtown Dallas, Plano, and at Texas Heath Presbyterian Hospital. A fourth location in Frisco is planned when UTSW opens specialty clinics there in 2020. Patient demand remains high with 2304 new patient referrals received in 2019. Two new pediatric epilepsy physicians joined the group in 2019 which improved access for physician appointments. Partnership with advanced practice providers is also essential to keep the wait time for new epilepsy patient appointments low. The center has 6 epilepsy-trained pediatric advanced practice providers who see outpatients and assist on the inpatient Epilepsy Monitoring Unit.

Epilepsy Surgery Program The Comprehensive Epilepsy Center is certified as a Level 4 Epilepsy center by the National Association of Epilepsy Centers, indicating provision of the highest level of complexity of epilepsy surgery services. The physicians work in a multidisciplinary team with the center neurosurgeon, neuroradiologist and neuropsychologist to create an individual surgical plan for each patient. Seizure-free outcomes for surgery at CMC Dallas equal or exceed those in pediatric series published in peer-reviewed literature. In 2019 CHST acquired a ROSA robot to assist in the surgical placement of stereo EEG electrodes, replacing the shared robot previously used at UTSW, allowing all epilepsy surgeries to be performed in the Children’s Hospital. The epilepsy surgery program is also a pioneer in the use of laser interstitial thermoablation therapy for corpus callosotomy. This minimally invasive surgical approach reduces surgical complications and allows for much faster recovery time. The addition of MEG source localization imaging at UTSW in 2019 is anticipated to further enhance the center’s ability to offer surgery to complex epilepsy patients. Dr Andrea Lowden has been training in MEG interpretation and will begin interpreting pediatric and adult MEG studies in 2020. The surgery program has shown steady growth and had a significant increase in 2018 reflecting growth of invasive monitoring using robotically assisted stereo-EEG electrodes. Approximately 45% of the Center’s surgical patients originate as consultations from the Children’s Health inpatient or ER services, 32% come from referrals for second opinions, and the remainder from our new-onset seizure clinic. With the loss of a physician in early 2019 volume declined slightly but is expected to increase with the addition of two new epilepsy faculty at the end of 2019.

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Neurophysiology services

Neurophysiology services have remained stable, with a decrease in routine EEG procedures offset by an increase in inpatient video EEG monitoring. The continued growth in ICU monitoring follows a national trend, and challenges the limits of the existing physicians to provide seamless 24/7 oncall coverage for this essential service. Active recuritement efforts are aimed at hiring at least one additional faculty member in 2020 to help meet this demand. The majority of EEG interpretation is on the CMC Dallas Neurophysiology service, but physicians also provide EEG interpretation services at two off-site NICU locations, Texas Health Presbyterian Hospital Dallas and Clements University Hospital in Dallas and expect to begin interpreting Parkland NICU studies in 2020 if staffing allows. The CMC Dallas Neurophysiology Lab maintained accreditation by the American Board of Registration of Electroencephalographic and Evoked Potential Technologists (ABRET), and is one of the few accredited pediatric neurophysiology laboratories in the region.

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Recognition for Quality Care The Comprehensive Epilepsy Center was first certified in 2011 by the Joint Commission Disease Specific program for Distinction in the management of Pediatric Epilepsy, and continues to be the only pediatric epilepsy center in the country with this certification. In 2019, the program was recertified by Joint Commission, recognizing its excellence in clinical care, and especially its services aimed at helping teens with epilepsy address mental health concerns and transition to adulthood. The quality measures supporting this distinguished status are:

Appropriate diagnostic evaluation with EEG

Epilepsy safety counseling (seizure precautions and first aid)

Ease of access (speed of scheduling ER referrals)

Patient and Family Understanding of the Diagnosis

Screening of teenage patients for depression

Measuring quality of life at each patient visit

Assessing medication adherence at each patient visit

The Comprehensive Epilepsy Center joined the Epilepsy Learning Heath System in 2019. This is a national network of epilepsy centers across the US who are working together to assess and improve quality of care for people with epilepsy. With the center’s history of high quality clinical care and successfully maintaining certification by Joint Commission, the center faculty are positioned to be national leaders in this multicenter quality network. Dr Susan Arnold, the center medical director, is also involved in setting Epilepsy quality standards on a national level. She is Chair of the Accreditation Committee for the National Association of Epilepsy Centers and served on an International League Against Epilepsy task force in 2019 to establish international standards for accreditation of Epilepsy Centers.

Dr. Lauren Dengle

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Outreach: The faculty and staff of the Epilepsy Center partner with the Epilepsy Foundation of Texas to provide medical staff to two epilepsy camps each year. The staff also provides educational programming for both children and parents through the camp programs. The largest and most complex of these camps is the summer teen camp, Camp Kaleidoscope, which provides services to 100 teens with epilepsy and related neurological disabilities.

Research and Education In 2019 the Epilepsy Center physicians were site principal investigators for 4 clinical trials for new anti-seizure medications, and for a multicenter study of pharmacokinetics of antiseizure medication sponsored by the NICHD. Center physicians also provided EEG interpretation studies for a study of triheptanoin for Glut-1 deficiency, and for several natural history studies for genetic epilepsies which are overseen by other Pediatric Neurology faculty. Four faculty members presented research at national meetings in 2019, and three spoke at regional symposiums. Four faculty authored or co-authored a total of 5 papers in peer reviewed journals in 2019. The Pediatric Epilepsy and Neurophysiology Fellowship programs continue to attract talented applicants and the majority of fellows go on to university faculty positions. With new ACGME rules in 2019, both pediatric fellowships applied for and received independent accreditation from the ACGME (rather than being part of adult training programs as in the past). Two fellows presented original research at national meetings in 2019.

Current Grant/Contract Support

Rachel Bailey

Contractor: King Foundation Title of Project: Alzheimer’s Disease Gene Therapy Project Role: Principal Investigator Dates: 9/2019 – 8/2020 Contractor: G.D. Broughton, Jr. Foundation Title of Project: Alzheimer’s Disease Research Projects – Tau Gene Therapy Sub-project Role: Co-Investigator Dates: 1/2019 – 12/2022 Contractor: David M. Crowley Foundation Title of Project: Gene Therapy for Alzheimer’s Disease Role: Principal Investigator Dates: 2/2019 – 1/2020 Contractor: David M. Crowley Foundation Title of Project: Gene Therapy for Alzheimer’s Disease Role: Principal Investigator Dates: 2/2019 – 1/2020

Contractor: TESS Research Foundation Title of Project: Gene Therapy for SLC13A5 Deficiency Role: Principal Investigator Dates: 11/2018 – 10/2020

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Contractor: United MSD Foundation Title of Project: Multiple Sulfatase Deficiency Gene Therapy Using AAV Role: Principal Investigator Dates: 01/2018 – 12/2019

Contractor: Neurogene Title of Project: CMT4J Nonclincial Project Role: Principal Investigator Dates: 9/2018 – 12/2019

Diana Castro

Contractor: Cure SMA Title of Project: Site Capacity Funding for SMA Patients Role: Principal Investigator Dates: 02/2018 – 07/2019 Contractor: Cure SMA Title of Project: Cure SMA Clinical Data Registry Role: Principal Investigator Dates: 03/2019 – 03/2020

Contractor: Syneos Health LLC Title of Project: An Open-label Extension Study for Patients with Spinal Muscular Atrophy Who Previously Participated in Investigational Studies of ISIS 396443 Role: Site Principal Investigator Dates: 02/2016 – 02/2021 Contractor: Fibrogen Inc. Title of Project: Trial of FG-3019, a Monoclonal Antibody to Connective Role: Principal Investigator Dates: 11/2016 – 11/2021

Contractor: ReveraGen BioPharma Inc. Title of Project: A Phase IIb Randomized, Double-blind, VBP15-004 Role: Site Principal Investigator Dates: 11/2018 – 11/2023 Contractor: Sarepta Therapeutics Title of Project: An Open-Label Extension Study for Patients with Duchenne Muscular Dystrophy Who Participated in Studies of SRP-5051 Role: Site Principal Investigator Dates: 01/2019 – 01/2024

Michael Dowling

Grantor: University of California, San Francisco Title of Project: The Vascular effects of Infection in Pediatric Stroke (VIPS II) Role: Site Principal Investigator Dates: 09/2017 – 06/2022

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Steven Gray

Contractor: University of Pennsylvania Title of Project: Combination Therapy, Biomarkers and Imaging in Canine Krabbe Disease - YR3 Role: Site Principal Investigator Dates: 06/2018 – 05/2019 Contractor: Pitt-Hopkins Research Foundation Title of Project: Gene Therapy for Pitt-Hopkins Syndrome Role: Principal Investigator Dates: 02/2018 – 07/2019 Contractor: Angelman Syndrome Foundation, Inc. Title of Project: Angelman Syndrome Gene Therapy Role: Principal Investigator Dates: 12/2017 – 08/2019

Contractor: Abeona Therapeutics Inc. Title of Project: Completion of CLN1 Efficacy Studies and Novel CNS Capsid Evaluations Role: Principal Investigator Dates: 09/2016 – 09/2019 Contractor: Cure AHC Inc. Title of Project: ATP1A3 Gene Therapy Role: Principal Investigator Dates: 12/2018 – 11/2019 Contractor: Rett Syndrome Research Trust Title of Project: A Gene Therapy Consortium to Develop and Evaluate Gene Therapy Approaches in Rett syndrome Role: Principal Investigator Dates: 01/2018 – 01/2020

Contractor: NIH/NINDS Title of Project: Giant Axonal Neuropathy Gene Therapy Role: Principal Investigator Dates: 04/2014 – 03/2020 Contractor: Mila’s Miracle Foundation to Stop Batten Title of Project: CLN7 Gene Therapy Role: Principal Investigator Dates: 05/2017 – 04/2020

Contractor: Jackson Laboratory Title of Project: The Jackson Laboratory Center for Precision Genetics: From New Models to Novel Therapeutics Role: Site Principal Investigator Dates: 12/2018 – 06/2020

Contractor: Neurogene Inc. Title of Project: CLN5 Gene Therapy in Sheep Role: Pre-Clinical Principal Investigator Dates: 10/2018 – 09/2020

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Contractor: Neurogene Inc Title of Project: Gene Therapy for Angelman Syndrome Role: Co-Principal Investigator Dates: 11/2018 – 10/2020 Contractor: International Rett Syndrome Foundation Title of Project: Can non-invasive interventions synergistically enhance the efficacy of MECP2 gene therapy? Role: Principal Investigator Dates: 01/2019 – 10/2020

Contractor: Neurogene Inc. Title of Project: Prepare and Submit IND Applications for CLN5 and CLN7 Gene Replacement Therapy and Obtain IBC and RAC Approvals as Necessary Role: Pre-Clinical Principal Investigator Dates: 01/2018 – 12/2020

Contractor: NIH/NINDS Title of Project: Directed Evolution of Novel AAV Capsids for Global CNS Gene Delivery in Rodents and Primates Role: Principal Investigator Dates: 08/2018 – 07/2021 Contractor: Neurogene Inc. Title of Project: IND-enabling studies for Aspartylglucosaminuria (AGU) to support the initiation of an AAV9/AGA gene transfer clinical trial Role: Pre-Clinical Principal Investigator Dates: 08/2018 – 07/2023 Contractor: Neurogene Inc. Title of Project: IND-enabling studies for CMT4J to support the initiation of an AAV9/FIG4 gene transfer clinical trial Role: Pre-Clinical Principal Investigator Dates: 12/2018 – 11/2023 Contractor: Neurogene Inc. Title of Project: Support the GLP Toxicology Study Being Carried out by MPI Research Role: Pre-Clinical Principal Investigator Dates: 03/2019 – 02/2024

Susan Iannaccone

Contractor: Muscular Dystrophy Association Title of Project: MDA Care Center Role: Principal Investigator Dates: 01/2017 – 01/2020

Contractor: Muscular Dystrophy Association Title of Project: MDA Care Center Role: Principal Investigator Dates: 10/2010 – 08/2020

Contractor: Sarepta Therapeutics Title of Project: Essence: double-blind, placebo-controlled, multi-center study with an open-label extension to evaluate the efficacy and safety of SRP-4045 and SRP-4053 in patients with DMD Role: Site Principal Investigator Dates: 05/2017 – 05/2022

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Contractor: AveXis Title of Project: STRIVE - Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Role: Site Principal Investigator Dates: 12/2017 – 12/2022

Contractor: AveXis Title of Project: STRONG - Phase I, Open-Label, Dose Comparison Study of AVXS-101 for Sitting but Non-ambulatory Patients with Spinal Muscular Atrophy Role: Site Principal Investigator Dates: 01/2018 – 01/2023

Contractor: AveXis Title of Project: SPRINT - A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants with Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy with Multiple Copies of SMN2 Role: Site Principal Investigator Dates: 11/2018 – 11/2023

Contractor: Mallinckrodt Pharmaceuticals Title of Project: A Multicenter, Randomized, Parallel Group, Double Blind, Multiple Dose, Placebo Controlled Study to Assess the Efficacy and Safety of MNK-1411 in Male Subjects 4 to 8 Years of Age With Duchenne Muscular Dystrophy Role: Site Principal Investigator Dates: 01/2019 – 01/2024

Contractor: Sarepta Therapeutics Title of Project: Long-term, Open-label Extension Study for Patients With Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen Role: Site Principal Investigator Dates: 06/2019 – 06/2040

Berge Minassian

Contractor: University of Kentucky Research Foundation Title of Project: Genome Editing, mRNA Suppression, and Glycogen Chain Termination as Therapy for Lafora Disease YR3 Role: Site Principal Investigator Dates: 07/2019 – 06/2020

Contractor: University of Pennsylvania Title of Project: Gene Replacement Therapy for APBD Role: Principal Investigator Dates: 02/2019 – 01/2020 Contractor: Ultragenyx Pharmaceutical Inc Title of Project: Viral Gene Replacement Therapy for Unverricht-Lundborg Disease Role: Principal Investigator Dates: 12/2018 – 11/2020 Contractor: University of Pennsylvania Title of Project: Prospective, Longitudinal, Observational Study of the Na? Role: Principal Investigator? Dates: 08/2019 – 12/2040

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Eric Remster

Contractor: Lilly USA LLC Title of Project: LY2951742 Protocol Addendum I5Q-MC-CGAS(1.1) Role: Site Principal Investigator Dates: 01/2019 – 12/2024

Tonia Sabo

Grantor: Impax Laboratories LLC Title of Project: A Clinical Study to Evaluate the Efficacy and Safety of Zolmitriptan Nasal Spray Role: Site Principal Investigator Dates: 01/2018 – 11/2023

Deepa Sirsi

Grantor: Zogenix Inc Title of Project: A Two-Part Study of ZX008 Role: Principal Investigator Dates: 10/19/18 – 10/19/2023

Jeff Waugh

Grantor: American Academy of Neurology, Career Development Award Title of Project: Evaluating a potential mechanism for dystonia: the role of impaired inhibition Role: Principal Investigator Dates: 02/2018 – 01/2021

Peer-Reviewed Publications

1. Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA. Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Ann Clin Transl Neurol. 2019 Mar 7;6(4):807-811. PMID: 31020005

2. Armao D, Bouldin T, Bailey R, Hooper J, Bharucha D, Gray S. Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens. Orphanet J Rare Dis. 2019 Feb 1;14(1):27. PMID: 30709364

3. Armstrong D, Said R. Outcomes of High-Dose Steroid Therapy for Infantile Spasms in Children With Trisomy 21. J Child Neurol. 2019 Oct;34(11):646-652. PMID: 31113280

4. Blackburn K, Wang C, Greenberg B. Two cases of aquaporin-4 positive neuromyelitis optica associated with T-cell lymphoma. J Neuroimmunol. 2019 Oct 30;338:577092. PMID: 31706113

5. Blood AJ, Kuster JK, Waugh JL, Levenstein JM, et al. White Matter Changes in Cervical Dystonia Relate to Clinical Effectiveness of Botulinum Toxin Treatment. Front Neurol. 2019 Apr 4;10:265. PMID: 31019484

6. Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Waugh JL, et al. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. 2019 Oct 23. PMID: 31646703

7. Chung MG, Guilliams, Wilson JL, Beslow LA, Dowling MM, et al. Arterial Ischemic Stroke Secondary to Cardiac Disease in Neonates and Children. Pediatr Neurol. 2019 Nov;100:35-41. PMID: 31371125

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8. Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, et al. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun;59(6):650-657. PMID: 30706490

9. Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. Neurology. 2019 May 21;92(21):e2492-e2506. PMID: 31019106

10. de Gusmao CM, Stone S, Waugh JL, Yang E, Lenk GM, Rodan LH. VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Mov Disord Clin Pract. 2019 Jun 21;6(6):494-497. PMID: 31392254

11. Guilliams KP, Fields ME, Dowling MM. Advances in Understanding Ischemic Stroke Physiology and the Impact of Vasculopathy in Children With Sickle Cell Disease. Stroke. 2019 Feb;50(2):266-273. PMID: 30661504

12. Guilliams KP, Kirkham FJ, Holzhauer S, Dowling MM, et al. Arteriopathy Influences Pediatric Ischemic Stroke Presentation, but Sickle Cell Disease Influences Stroke Management. Stroke. 2019 May;50(5):1089-1094. PMID: 31009343

13. Gutmann L, Cahill C, Jordan JT, Gamaldo CE, Santini V, Said R, et al. Characteristics of graduating US allopathic medical students pursuing a career in neurology. Neurology. 2019 Apr 23;92(17):e2051-e2063. PMID: 30926683

14. Hoffman EP, Schwartz BD, Mengle-Gaw LJ, Smith EC, Castro D, et al. Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function. Neurology. 2019 Sep 24;93(13):e1312-e1323. PMID: 31451516

15. Hoge MK, Thomas JM, Hanners NW, Castro DP, Ali N. Case 1: Apnea and Hypotonia in a 1-month-old Infant. Neoreviews. 2019 Oct;20(10):e592-e593. PMID: 31575781

16. Huang M, Frantz J, Moralez G, Sabo T, Davis PF, Davis SL, Bell KR, Purkayastha S. Reduced Resting and Increased Elevation of Heart Rate Variability With Cognitive Task Performance in Concussed Athletes. J Head Trauma Rehabil. 2019 Jan/Feb;34(1):45-51. PMID: 29863622

17. Husari KS, Labiner K, Huang R, Said R. New-Onset Refractory Status Epilepticus in Children: Etiologies, Treatments, and Outcomes. Pediatr Crit Care Med. 2019 Sep 20. PMID: 31568262

18. Jiang X, Raju PK, D’Avanzo N, Lachance M, Pepin J, Minassian BA, et al. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. 2019 Sep;60(9):1881-1894. PMID: 31468518

19. Kelly M, Park M, Mihalek I, Rochtus A, Kayani S, Waugh JL, et al. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 Mar;60(3):406-418. PMID: 30682224

20. Kirton A, Dowling MM. Protocols and Guidelines for Stroke in Children: Point and Counterpoint. Pediatr Neurol. 2019 Jun;95:5-8. PMID: 30686626

21. Lehman LL, DeVeber G, Pergami P, Guilliams KP, Chung M, Felling R, Dowling MM, Rivkin MJ. Characteristics and Outcome in Children With Craniectomy Following Acute Ischemic Stroke in the International Pediatric Stroke Study. J Child Neurol. 2019 Oct;34(12):765-769. PMID: 31282248

22. Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Minassian BA, et al. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genet Med. 2019 Aug;21(8):1897-1898. PMID: 30279470

23. Narayan RN, McCreary M, Conger D, Wang C, Greenberg BM. Unique characteristics of optical coherence tomography (OCT) results and visual acuity testing in myelin oligodendrocyte glycoprotein (MOG) antibody positive pediatric patients. Mult Scler Relat Disord. 2019 Feb;28:86-90. PMID: 30576847

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24. Narayan RN, Wang C, Greenberg BM. Acute Disseminated Encephalomyelitis (ADEM) and Increased Intracranial

Pressure Associated With Anti-Myelin Oligodendrocyte Glycoprotein Antibodies. Pediatr Neurol. 2019 Oct;99:64-68. PMID: 31248672

25. Narayan RN, Wang C, Sguigna P, Husari K, Greenberg B. Atypical Anti-MOG syndrome with aseptic meningoencephalitis and pseudotumor cerebri-like presentations. Mult Scler Relat Disord. 2019 Jan;27:30-33. PMID: 30300850

26. Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K. Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance. Front Pediatr. 2019 Jan 16;6:424. PMID: 30701169

27. Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, et al. The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. Seizure. 2019 Oct;71:247-257. PMID: 31476531

28. Palmer EE, Hong S, Al Zahrani F, Hashem MO, Kayani S, et al. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Am J Hum Genet. 2019 Mar 7;104(3):542-552. PMID: 30827498

29. Purkayastha S, Sorond FA, Lyng S, Frantz J, Murphy MN, Hynan LS, Sabo T, Bell KR. Impaired Cerebral Vasoreactivity Despite Symptom Resolution in Sports-Related Concussion. J Neurotrauma. 2019 Aug 15;36(16):2385-2390. PMID: 30693827

30. Purkayastha S, Stokes M, Bell KR. Autonomic nervous system dysfunction in mild traumatic brain injury: a review of related pathophysiology and symptoms. Brain Inj. 2019;33(9):1129-1136. PMID: 31216903

31. Purkayastha S, Williams B, Murphy M, Lyng S, Sabo T, Bell KR. Reduced heart rate variability and lower cerebral blood flow associated with poor cognition during recovery following concussion. Auton Neurosci. 2019 Sep;220:102548. PMID: 31331690

32. Stokes M, Varughese N, Iannaccone S, Castro D. Clinical and genetic characteristics of childhood-onset myotonic dystrophy. Muscle Nerve. 2019 Dec;60(6):732-738. PMID: 31520483

33. Sullivan MA, Nitschke S, Skwara EP, Minassian BA, et al. Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases. Cell Rep. 2019 Apr 30;27(5):1334-1344.e6. PMID: 31042462

34. Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA. EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis. Epileptic Disord. 2019 Feb 1;21(1):30-41. PMID: 30767897

35. Tomkies A, Johnson RF, Shah G, Caraballo M, Evans P, Mitchell RB. Obstructive Sleep Apnea in Children with Autism. J Clin Sleep Med. 2019 Sep 4. PMID: 31596212

36. Tomlinson S, Buch V, Armstrong D, Kennedy B. Stereoelectroencephalography in Pediatric Epilepsy Surgery. J Korean Neurosurg Soc. 2019 May;62(3):302-312. PMID: 31085956

37. Waugh JL, Dure LS. How should we normalize regional volume abnormalities in childhood neurodegenerative disorders? Neurology. 2019 Apr 23;92(17):779-780. PMID: 30971488

38. Waugh JL, Kuster JK, Makhlouf ML, Levenstein JM, et al. A registration method for improving quantitative assessment in probabilistic diffusion tractography. Neuroimage. 2019 Apr 1;189:288-306. PMID: 30611874

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39. Wang C, Greenberg B. Clinical Approach to Pediatric Transverse Myelitis, Neuromyelitis Optica Spectrum Disorder and Acute Flaccid Myelitis. Children (Basel). 2019 May 17;6(5). PMID: 31109018

40. Xu L, Castro D, Reisch JS, Iannaccone ST. Response to treatment in pediatric ocular myasthenia gravis. Muscle Nerve. 2019 Oct 25. PMID: 31650555

41. Yang K, Iannaccone ST, Burkhalter LS, Reisch J, Cai C, Schindel D. Role of Nerve and Muscle Biopsies in Pediatric Patients in the Era of Genetic Testing. J Surg Res. 2019 Nov;243:27-32. PMID: 31151034

42. Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Sirsi D, et al. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet. 2019 May;27(5):747-759. PMID: 30664714

43. Evans, P. Autism Spectrum Disorder and Cannabinoids in Texas 2019: Looking for Answers in the Absence of Data. Dallas Pediatric Society Newsletter Fall 2019.

44. Tomkies,A,. Johnson, R, Shah, G, Caraballo, M, Evans, P and. Mitchell, R Obstructive Sleep Apnea in Children with Autism. Journal of Clinical Sleep Medicine. October 2019. PMID: 31483247

45. Thodeson DM, Dowd D, Golla S, Evans P, Huang R, Sirsi D. Evolution of EEG findings in children with autism spectrum

disorder: A tertiary care centre’s clinical experience. Journal of Psychology and Psychiatry. Volume 2(1): 2-4 doi: 10.15761/JPP.1000111

Book Chapter

1. Minassian BA, Striano P. (2019). “Lafora Body Disease”. In: Shorvon, S, Guerrini, R, Schachter, S and Trinka, E (Eds.), The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children (2nd ed., pp 336-341) Cambridge: Cambridge University Press.

2. Goodspeed, K., Haffner, D., Golla, S., Morris, MA, Evans P. Autism Spectrum Disorders: Clinical Considerations in R. N. Rosenberg, & J. M. Pascual (Eds.), The Molecular and Genetic Basis of Neurological and Psychiatric Disease, Sixth Ed. San Diego, Academic Press. 2019