Basic Science Research

Matthew Alexander, Ph.D., joined the division as a basic science investigator in 2016. The major focus of his laboratory is to study the epigenetic (non-DNA modifications) and genetic (DNA modifications) factors that regulate human neuromuscular diseases and to develop novel therapeutics for the treatment of these debilitating disorders. The laboratory takes a multi-systematic translational approach in using a combination of zebrafish and mouse disease modeling, along with using primary human samples to better understand the etiologies of these disorders and determine any potential avenues for therapeutic treatment. Duchenne muscular dystrophy (DMD) is the most prevalent muscular dystrophy that is studied; although there are additional projects in myotonic dystrophy type 1 (DM1) and limb-girdle muscular dystrophy 2I (LGM.D.2I). Zebrafish are an excellent translational tool for use as they have low maintenance costs, high numbers of offspring (200–300 embryos per mating pair), ex vivo (outside of the womb) development and most importantly can rapidly uptake small molecules through their gills and skin during development. The laboratory performs important pre-clinical mouse testing of “hit” compounds for eventual opportunity for translational (e.g., DMD) use and applications (e.g., bench to bedside).

The success of Dr. Alexander’s lab is evidenced by the receipt of multiple National Institutes of Health (NIH) and industry-sponsored awards, as well as participation in the UAB Center for Precision Animal Modeling.

Michael Lopez, M.D., Ph.D., continues to develop a collaborative research program in pediatric neuromuscular disease, under the mentorship of Drs. Peter King and Matthew Alexander. In addition, he has assumed the role of the primary clinical neuromuscular specialist within the division.

Dr. Lopez’s work investigating novel TGF-beta/microRNA signaling pathways associated with Duchenne muscular dystrophy pathology has led to several funding awards, including an NIH pediatric loan repayment award, Kaul Pediatric Research Institute New Investigator Award and the Child Neurology Career Development Program Award (NIH K12). Dr. Lopez is the recipient of a Mentored Clinical Scientist Research Award (NIH K08). Dr. Lopez is also collaborating with Dr. Matthew Alexander and Dr. Liz Worthey, Division of Pediatric Hematology/Oncology, in a study aimed at solving the molecular diagnosis and identifying novel myopathy genes of a cohort of 10 patients with undiagnosed myopathies.

Clinical Research

The division maintains an active clinical research portfolio, primarily addressing the areas of epilepsy, movement disorders, demyelinating diseases, Rett syndrome and neuromuscular conditions in childhood.

Epilepsy

Ismail Mohamed, M.D., is an active investigator in the application of magnetoencephalography in brain function and epilepsy. He is a co-investigator in a National Science Foundation study of language and memory in temporal lobe epilepsy and serves as a site investigator for the ENIGMA-MEG consortium. In addition, he serves as an investigator in a Pediatric Epilepsy Research Foundation study of outcomes of laser ablation surgery for refractory epilepsy. Pongkiat Kankirawatana, M.D., and Kathryn Lalor, M.D., serve as site investigators for an industry-sponsored trial of brivaracetam in new onset absence epilepsy, which will begin recruitment in early 2022. Finally, Dr. Mohamed has been recruited to serve as the site investigator for the Pediatric Epilepsy Learning Health System, although this initiative will likely not become active until there is a new electronic medical record.

Movement Disorders

Leon Dure, M.D., has served as a coordinating investigator for the industry sponsored RECLAIM-DCP international multisite trial of deutetrabenazine in the treatment of dyskinetic cerebral palsy. Emily Gantz, M.D., is a site investigator for this study. Dr. Dure also serves as chair of the Central Rating Committee for an industry sponsored trial addressing treatment of galactosemia.

Demyelinating Disorders

Lydia Marcus, M.D., continues to serve as a site investigator for the NIH-sponsored study of acute flaccid myelitis. She is also beginning a study to examine the role of exercise in the course and outcome of childhood demyelinating disorders. Jayne Ness, M.D., continues as a site investigator in several industry-sponsored treatment trials in childhood MS.

Rett Syndrome

Alan Percy, M.D., and Amitha Ananth, M.D., maintain a strong presence in several clinical trials examining pharmacologic interventions for Rett Syndrome. Dr. Percy has moved to emeritus status but continues to engage heavily in these clinical research efforts.

Neuromuscular Disorders

Perhaps no area of pediatric neurology has undergone more change than in the potential for treatment of neuromuscular diseases. The advent of a number of compounds to symptomatically treat spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) has engendered a number of industry-sponsored studies, as well as NIH-sponsored efforts. Currently, Han Phan, M.D., and Dr. Michael Lopez are engaged in five observational and/or treatment trials. Dr. Phan is the principal investigator for a CDC-sponsored foundation grant for the development of newborn screening for SMA. In addition, three investigator-initiated studies are in the final approval process to begin the formation of a biobank for pathology specimens and to examine the effect of exercise in children with neuromuscular disorders.

Quality Improvement

A number of projects have been implemented in the past year to further the division’s mission of clinical care. One of these has involved the logistics of appointing patients to outpatient clinics. With collaboration from Children’s of Alabama Hospital, we have endeavored to only make appointments after direct telephone conversation with a parent. This has resulted in better accommodation to family schedules, and has improved our show rate and decreased the rate of appointments canceled by parents. In addition, we have aggressively worked to fill canceled slots. To assess the efficacy of these interventions, we prospectively examined the difference in templated clinic appointments compared to the scheduled appointments on a given day. Our data indicate that daily scheduled appointments outnumber the template, demonstrating that we are successfully filling clinics spots as well as appointing overbooks.

This past year, Salman Rashid, M.D., performed a QI project examining the delay in obtaining inpatient EEG studies. He conclusively demonstrated that the provision of a dedicated inpatient EEG technician reduced the time to obtain a study by over 30%.

Finally, Sarah Novara, M.D., instituted a specific referral mechanism for children with childhood headache. This was initially instituted in selected Children’s of Alabama-owned outpatient practices and has served to streamline headache referrals, simultaneously rendering a more efficient use of neurologist time. This project will be extended to a larger group of stakeholders in 2022.

Ann Neurol. 2021 Jan 22. Multisite Study of Evoked Potentials in Rett Syndrome. Joni N Saby, Timothy A Benke, Sarika U Peters, Shannon M Standridge, Junko Matsuzaki, Clare Cutri-French, Lindsay C Swanson, David N Lieberman, Alexandra P Key, Alan K Percy, Jeffrey L Neul, Charles A Nelson, Timothy P L Roberts, Eric D Marsh.

Epilepsy Behav. 2021 Jul 14;122:108190. Longitudinal impact of cannabidiol on EEG measures in subjects with treatment-resistant epilepsy. Leslie Grayson, Steve Ampah, Kathleen Hernando, Pongkiat Kankirawatana, Tyler Gaston, Gary Cutter, Jerzy P Szaflarski, Elizabeth Martina Bebin, UAB CBD Program.

J Child Neurol. 2021 Apr 5;8830738211002679. Pediatric N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis, With and Without Herpes Encephalitis. Lydia Marcus, Jayne M Ness.

JAMA Pediatr. 2021 Feb 1. Association of Headache With School Functioning Among Children and Adolescents in the United States. Scott B Turner, Christina L Szperka, Andrew D Hershey, Emily F Law, Tonya M Palermo, Cornelius B Groenewald.

Muscle Nerve. 2021 Mar 2. hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Matthew S Alexander, Rylie M Hightower, Andrea L Reid, Alexis H Bennett, Lakshmanan Iyer, Donna K Slonim, Madhurima Saha, Genri Kawahara, Louis M Kunkel, Alan S Kopin, Vandana A Gupta, Peter B Kang, Isabelle Draper.

Neurology. 2021 Jun 9;10.1212/WNL.0000000000012261. Factors Associated With, and Mitigation Strategies for, Healthcare Disparities Faced by Patients With Headache Disorders. Jessica Kiarashi, Juliana VanderPluym, Christina L Szperka, Scott Turner, Mia T Minen, Susan Broner, Alexandra C Ross, Amanda E Wagstaff, Marissa Anto, Maya Marzouk, Teshamae S Monteith, Noah Rosen, Salvador L Manrriquez, Elizabeth Seng, Alan Finkel, Larry Charleston 4th.

Seizure. 2021, 89, 73-80 3. Cognitive outcome in children with infantile spasms using a standardized treatment protocol. A five-year longitudinal study. Bitton JY, Desnous B, Sauerwein H, Connolly M, Weiss K, Donner E, Whiting S, Mohamed IS, Wirrell E, Ronen G, Lortie A.

Leon Dure, M.D.

• Dr. Dure was selected to serve on the Alabama Board of Genetic Counselors.
• He is the chair the Match Committee for the Child Neurology Society.

Monisha Goyal, MD.

• Dr. Goyal serves on the National Professional Advisory Board Committee of the Epilepsy Foundation of America.

Krisztina Harsanyi-Jilling, M.D.

• Dr. Harsanyi-Jilling serves on the Match Oversight Committee of the Child Neurology Society.

Ismail Mohamed, M.D.

• Dr. Mohamed is a member of the Board of Directors of the American Clinical MEG Society, where he also serves as treasurer.
• He is a member of the Professional Advisor Board of the Epilepsy Foundation of Alabama.

Scott Turner, DNP

• Dr. Turner is the president-elect of the Association of Child Neurology Nurses.
• Since 2020, he has led a workgroup of the American Headache Society to implement a Headache Action Plan Project for Youth.

The UAB Child Neurology Residency Program is a five-year categorical residency program designed to educate and empower our residents to be well-trained, patient-centered child neurologists. As the largest pediatric referral center in the state of Alabama, our residents are exposed to a wide array of neurologic disorders in our general pediatric neurology clinics and in other clinic settings which include: the Center for Pediatric Onset Demyelinating Disorders Clinic, Tourette Syndrome Clinic/CBIT, Neurogenetics Clinic, Rett Syndrome Clinic, UAB Tuberous Sclerosis Clinic in collaboration with UAB Genetics, Ketogenic Diet Clinic, and MDA Clinic. We utilize a state-of-the-art simulation center at Children’s of Alabama to provide simulation education for our residents. Our program believes in the power of mentorship and lifelong learning and strives to ensure that our residents are well-rounded and ready for autonomous practice upon graduation.

2021–2022 Residents/Fellows

Completing Training in General Pediatric Residency Program

Katherine Barnes, M.D.
PGY 1
Medical School: University of Alabama at Birmingham 

Jordy Roque, M.D.
PGY 1
Medical School: Lake Erie College of Osteopathic Medicine

Joshua Butler, M.D.
PGY 2
Medical School: Medical College of Georgia

Destini Smith, M.D.
PGY 2
Medical School: University of South Alabama

Completing Child Neurology Portion of Training

Khaled Al-Robaidi, M.D.
PGY 2
Medical School: The University of Jordan

Sarah Grace Engel, M.D.
PGY 2
Medical School: Medical University of South Carolina

Erin McLeod, M.D.
PGY 3
Medical School: University of Alabama at Birmingham 

Matthew Lustig, M.D.
PGY 4
Medical School: Medical College of Georgia

Katie Thaggard, M.D.
PGY 4
Residency: Pediatrics, University of Mississippi Medical Center

Program Director

Sarah Novara, M.D.

Program Coordinator

Brittini Sheilds