Explore UAB

Colleges & Schools

Department of Pediatrics Heersink School of Medicine

Pediatric Neurology Research

Clinical Research

Leon Dure, M.D. 
Dr. Dure serves as the pediatric neurology resource for the multisite clinical trials consortium, NeuroNEXT.  In this role, he has responded to queries from clinical trial investigators regarding the suitability of UAB as a site.  Few NeuroNEXT studies have been developed that address childhood neurologic disorders, and UAB has not been selected as a site.  In 2014, the State of Alabama enacted legislation to decriminalize the use of cannabidiol (CBD) for individuals with refractory epilepsy.  As part of this law, money was set aside to carry out an observational study of the effect of CBD in known epileptics.  Dr. Dure is a member of the Steering Committee for this effort, which involved a number of administrative and logistical issues in order to carry out the study.  Besides taking a major role in the development of the study, Dr. Dure continues as a records analyst to determine if patients meet inclusion criteria for this study.

In 2017, Dr. Dure was named the site investigator for two industry-sponsored trials.  The first is a phase 3 assessment of the efficacy and safety of triheptanoin for the treatment of movement disorders in Glucose Transporter Type 1 Deficiency, and is not as yet active.  Similarly, Dr. Dure will serve as the site investigator for an open-label extension of an agent to treat Niemann-Pick Type C1, and this study is awaiting regulatory approval.

Tony McGrath, M.D.   
Dr. McGrath functions as a consultant on the U01 HD052102-02 research cooperative addressing disease burden for HIV-infected children, and as a sub-investigator for U01 HL078787-05S1, a trial examining features of cerebrovascular events in children with sickle-cell disease.  He chairs the Selection Committee for the UAB CBD study, and is a sub-investigator with Dr. Ness on two industry sponsored MS therapy trials.  Finally, he is a medical monitor for a phase 1 clinical trial of a modified herpesvirus vector to treat childhood brain tumors.

Jayne Ness, M.D., Ph.D.
As the head of the site of the only pediatric multiple sclerosis center in the South, Dr. Ness has accumulated a large panel of children with a variety of demyelinating disorders.  She currently is the site investigator for two industry sponsored clinical trials, one examining the safety and efficacy of tocilizumab in neuromyelitis optica spectrum disorders, and the other addressing safety and efficacy of oral fingolimid versus intramuscular beta-interferon in MS.

Monisha Goyal, M.D.  
In collaboration with Dr. Martina Bebin in the Department of Neurology, Dr. Goyal serves as co-PI for two NIH funded studies of tuberous sclerosis.  The first involves the identification of biomarkers for autism-spectrum disorders, and the second examines EEG biomarkers as well as treatment strategies in tuberous sclerosis.  Dr. Goyal is the principal site investigator for three industry-sponsored studies of the efficacy and safety of cannabidiol in Dravet syndrome and Lennox-Gastaut syndrome.

Pongkiat Kankirawatana, M.D.
Dr. Kankirawatana has focused exclusively on industry sponsored epilepsy studies.  He is currently the site investigator for two studies examining lacosamide as an adjunctive therapy for partial onset seizures, as well as an intravenous equivalency study of lacosamide.  He is also recruiting patients with new onset epilepsy to compare safety and tolerability of topiramate vs levetiracetam.  One study of an investigational drug for super-refractory epilepsy has recently closed enrollment, and an open label study of lacosamide safety and tolerability is in the development/regulatory stages.

Ismail Mohamed, M.D.
Dr. Mohamed is our representative to the Pediatric Epilepsy Research Consortium, and has taken over our recruitment for a multicenter study of treatment and outcomes in infantile spasms.  He is also a participant in the Experimental Program to Stimulate Competitive Research initiative examining the dynamics of seizure and memory networks.

Basic Science Research

Matthew Alexander, Ph.D.      
In 2016, Dr. Alexander was recruited as a basic science investigator in the Division. 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 (LGMD2I). 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 patient) use and applications (e.g. bench to bedside).

Alexander Lab

UAB Collaborations: The Alexander lab has several significant collaborations with other UAB laboratories. Most noteworthy is a collaboration with the laboratory of Dr. Glenn Rowe (Dept. of Cardiology) to study the role of Mitofusion 1 and 2 (Mfn1/2) in normal and dystrophic skeletal muscles. We also have a collaboration with Dr. Leeo Sun (CAS-Biology) to study the functional role of growth hormone signaling in normal, aged, and dystrophic zebrafish muscles. Dr. Alexander has also taken the initiative to form the UAB Fish Users Seminar Series (with support from the Division of Neurology) to organize the fish users at UAB for the purpose of research collaborations and utilizing shared equipment resources.

External Collaborations: The Alexander lab maintains strong collaborations with other muscular dystrophy investigators and zebrafish researchers throughout the US and world.  One notably collaboration is a multi-PI collaboration headed by Dr. Peter Kang (U. Florida) that involves the testing of a therapeutic compound for the treatment of myotonic dystrophy type 1 (DM1).  Dr. Alexander and Dr. Kang have gathered a significant amount of preliminary data and are putting together a STTR grant for a fall 2017 submission. Dr. Alexander also has significant collaborations with Drs. Qi Long Lu (UNC/McColl-Lockwood Center for Muscular Dystrophy), Jamie Johansen (Central Michigan University), and Eric Lai (Memorial Sloane-Kettering Institution).

Notable Research Highlights:
Kaul Pediatrics Research Grant Awarded: This awarded supports the collaboration between Dr. Alexander, Dr. Fequiere, and Dr. Worthey (HudsonAlpha) to fully sequencing the DMD patients and families to identify genetic modifiers of DMD.                            

UAB UCEM T32 Training Grant Awarded (R. Hightower): This award supports my graduate student (Rylie Hightower) and her training for 2 years.  It supports her dissertation work while offering opportunities for distance learning and presenting her work at scientific conferences.

Publications: 5 total peer-reviewed manuscripts in top journals (Cell Stem Cell, PNAS, and Cell Reports). 2 additional manuscripts from the laboratory are currently under review.

Quality Improvement Research

Salman Rashid, M.D. and Sarah Novara, M.D.
They both hold Graduate Certificates in Healthcare Quality and Safety from the University of Alabama at Birmingham and are pursuing Masters of Science in Healthcare Quality and Safety. They serve as quality improvement representatives within our division and are collaborating on a variety of projects promoting patient-centered, efficient care in the outpatient and inpatient settings. They are currently focused on improving neurology clinic efficiency with a time-in-motion study. They are also developing a pediatric status epilepticus pathway with the assistance of representatives from both inside and outside of our Division with the intent to study outcomes before and after pathway introduction. Dr. Novara is also studying the use of simulation as an education tool in the area of pediatric stroke.

Active Clinical Trials 

  • Amitha Ananth, M.D.
    • A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose, Multicenter Study to Examine the Efficacy and Safety of ZX008 in Subjects with CDKL5 Deficiency Disorder Followed by an Open-Label Extension

    • REVEAL 101 Study: An Open-label, Dose-escalation and Dose-expansion Study of the Safety and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, in the Treatment of Femaleswith Rett Syndrome

    • EP0247: A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Multicenter Study with Open-Label Extension to Evaluate the Efficacy and Safety of Fenfluramine Hydrochloride in Study Participants with Rett Syndrome
  • Matthew Alexander, Ph.D.
    • A Specimen Biobank for Patients with Atypical Neurological and Neuromuscular Disorders

    • Investigation of Chronodisruption in Dystrophinopathy Patients Using Wearable Activity Devices

    • An Autopsy Biobank for Neuromuscular Disease Patients 
  • Pongkiat Kankirawatana, M.D.
    • A Randomized, Dose-Finding and Confirmatory, Double-Blind, Placebo-Controlled, Parallel-Group Multicenter Study with A 2-Stage Adaptive Design and Randomized Withdrawal to Evaluate the Efficacy, Safety, and Tolerability of Brivaracetam as Monotherapy in Patients 2 to 25 Years of Age with Childhood Absence Epilepsy or Juvenile Absence Epilepsy

    • A multicenter, open-label, single-arm study to evaluate long-term safety and tolerability of brivaracetam in study participants with childhood absence epilepsy or juvenile absence epilepsy

  • Kathryn Lalor, M.D.
    • EPX-100-001: A 20-week, multicenter, randomized, double-blind, placebo-controlled trial of EPX-100 (Clemizole Hydrochloride) as adjunctive therapy in children and adult participants with Dravet syndrome

    • EPX-100-003: Multicenter, Randomized, Double-blind, Placebo-controlled Trial of Clemizole HCl as Adjunctive Therapy in Patients with Lennox-Gastaut Syndrome

    • Responsive Neurostimulation (RNS) Compassionate Use Program- Two Adolescent Patients Access to Responsive Neurostimulation for the Treatment of Drug-Resistant Epilepsy

    • Detecting Absence Seizures Using Hyperventilation In Home Environment

  • Michael Lopez, M.D., Ph.D.
    • A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-Label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping

    • SRP-9001-401- A Long-term Multicenter Prospective Observational Study Evaluating the Comparative Effectiveness and Safety of Sarepta Gene Transfer Therapy vs. Standard of Care in Participants with Duchenne Muscular Dystrophy under Conditions of Routine Clinical Practice

    • EXPANDED ACCESS- Protocol of Apitegromab for Patients with Spinal Muscular Atrophy

    • NGAM-11: Multicenter, Prospective, Double-Blinded, Parallel Group, Randomized Phase III Study to Evaluate Safety and Efficacy of Different PANZYGA Dose Regimens in Pediatric Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) Patients
  • Lydia Marcus, M.D.
    • Physical Activity, Quality of Life and Disease Outcomes in Youth with Multiple Sclerosis: the ATOMIC (Active Teens Multiple Sclerosis) Physical Activity Research Program

    • CONNECT Registry (CONquering Neuroimmunology and Epilepsies ConsorTium)

  • Ismail Mohamed, M.D.
    • Prospective multicenter registry for patients diagnosed with EMAts according to latest ILAE guidelines across several academic epilepsy centers to study outcomes as they relate to stormy phase and ultimate seizure and developmental outcome
  • Jayne Ness, M.D., Ph.D.
    • Diet and Relapses in Pediatric Multiple Sclerosis

    • Pediatric-Onset Neuroinflammatory Diseases Registry

    • Patient Family Views on Pediatric Multiple Sclerosis Needs, Outcomes and Methods (Patient Family Views)

    • Pediatric Neurogenetics Registry

    • Pediatric Multiple Sclerosis and Other Demyelinating Diseases Database (Center for Pediatric Onset Demyelinating Disease) Protocol Version 1.03, dated January 10, 2022 (Pediatric Data Coordinating and Analysis Center)

  • Sarah C. Novara, M.D., MSHQS, FCNS
    • The International Pediatric Stroke Study (IPSS): Towards the Establishment of Standards of Practice and Initiation of Multi-Center, Multi-National Clinical Trials

    • ABCs of Child Neurology: Creating Lifelong Learning through Article Based Curriculum

  • Katherine Thaggard, M.D.
    • EP0237: Evaluating the safety of fenfluramine (Fintepla®) for Dravet syndrome, Lennox-Gastaut syndrome, and other epilepsy patients aged less than 2 years at treatment initiation: a US retrospective chart review
  • Austin Wheeler, M.D.
    • CARE.in.MS- Childhood Adversity Research Effort in MS

For questions about clinical trials, contact the UAB Pediatric Neurology Research Group:

205-638-6877

pedsneuroresearch@uabmc.edu

Publications

  • Recent Publications

    Alexander, M. S., & Kunkel, L. M. (2015). Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases. Journal of Neuromuscular Diseases, 2(1), 1–11. http://doi.org/10.3233/JND-140058

    Alexander, M. S., Casar, J. C., & Motohashi, N. (2015). Stem Cell Differentiation and Therapeutic Use. Stem Cells International, 2015, 308128–2. http://doi.org/10.1155/2015/308128

    Alexander, M. S., Casar, J. C., Motohashi, N., Vieira, N. M., Eisenberg, I., Marshall, J. L., et al. (2014). MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. The Journal of Clinical Investigation, 124(6), 2651–2667. http://doi.org/10.1172/JCI73579

    Alexander, M. S., Rozkalne, A., Colletta, A., Spinazzola, J. M., Johnson, S., Rahimov, F., et al. (2016). CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell, 19(6), 800–807. http://doi.org/10.1016/j.stem.2016.08.006

    Almeida, L., & Dure, L. S. (2014). Paroxysmal hypnogenic dyskinesia. Neurology, 82(21), 1935–1935. http://doi.org/10.1212/WNL.0000000000000451

    Baikie, G., Ravikumara, M., Downs, J., Naseem, N., Wong, K., Percy, A., et al. (2014). Gastrointestinal dysmotility in Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition, 58(2), 237–244. http://doi.org/10.1097/MPG.0000000000000200

    Bateman, L. B., Tofil, N. M., White, M. L., Dure, L. S., Clair, J. M., & Needham, B. L. (2016). Physician Communication in Pediatric End-of-Life Care: A Simulation Study. The American Journal of Hospice & Palliative Care, 33(10), 935–941. http://doi.org/10.1177/1049909115595022

    Beattie, J. F., Thompson, M. D., Parks, P. H., Jacobs, R. Q., & Goyal, M. (2017). Caregiver-reported religious beliefs and complementary and alternative medicine use among children admitted to an epilepsy monitoring unit. Epilepsy & Behavior : E&B, 69, 139–146. http://doi.org/10.1016/j.yebeh.2017.01.026

    Belman, A. L., Krupp, L. B., Olsen, C. S., Rose, J. W., Aaen, G., Benson, L., et al. (2016). Characteristics of Children and Adolescents With Multiple Sclerosis. Pediatrics, 138(1), e20160120–e20160120. http://doi.org/10.1542/peds.2016-0120

    Berrigan, P., Bardouille, T., MacLellan, M., Mohamed, I. S., & Murthy, M. (2016). Cost-utility analysis of magnetoencephalography used to inform intracranial electrode placement in patients with drug resistant epilepsy: a model based analysis. Journal of Evaluation in Clinical Practice, 22(6), 938–945. http://doi.org/10.1111/jep.12567

    Bitton, J. Y., Demos, M., Elkouby, K., Connolly, M., Weiss, S. K., Donner, E. J., et al. (2015). Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms? Epilepsia, 56(6), 856–863. http://doi.org/10.1111/epi.12997

    Cala, C. M., Moseley, C. E., Steele, C., Dowdy, S. M., Cutter, G. R., Ness, J. M., & DeSilva, T. M. (2016). T cell cytokine signatures: Biomarkers in pediatric multiple sclerosis. Journal of Neuroimmunology, 297, 1–8. http://doi.org/10.1016/j.jneuroim.2016.04.015

    Capal JK, Horn PS, Murray DS, Byars AW, Bing NM, Kent B, Bucher LA, Williams ME, O'Kelley S, Pearson DA, Sahin M, Krueger DA; TACERN Study Group. Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex.  Pediatr Neurol. 2017 Jun 27. pii: S0887-8994(17)30474-5. doi: 10.1016/j.pediatrneurol.2017.06.010

    Capal JK, Bernardino-Cuesta B, Horn PS, Murray D, Byars AW, Bing NM, Kent B, Pearson DA, Sahin M, Krueger DA; TACERN Study Group. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 May;70(Pt A):245-252. doi: 10.1016/j.yebeh.2017.02.007

    Casper, T. C., Rose, J. W., Roalstad, S., Waubant, E., Aaen, G., Belman, A., et al. (2015). The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps. Journal of Child Neurology, 30(10), 1381–1387. http://doi.org/10.1177/0883073814550656

    Chitnis, T., Graves, J., Weinstock-Guttman, B., Belman, A., Olsen, C., Misra, M., et al. (2016a). Distinct effects of obesity and puberty on risk and age at onset of pediatric MS. Annals of Clinical and Translational Neurology, 3(12), 897–907. http://doi.org/10.1002/acn3.365

    Chitnis, T., Ness, J., Krupp, L., Waubant, E., Hunt, T., Olsen, C. S., et al. (2016b). Clinical features of neuromyelitis optica in children: US Network of Pediatric MS Centers report. Neurology, 86(3), 245–252. http://doi.org/10.1212/WNL.0000000000002283

    Cuddapah, V. A., Pillai, R. B., Shekar, K. V., Lane, J. B., Motil, K. J., Skinner, S. A., et al. (2014). Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Journal of Medical Genetics, 51(3), 152–158. http://doi.org/10.1136/jmedgenet-2013-102113

    Cuddapah, V. A., Thompson, M., Blount, J., Li, R., Guleria, S., & Goyal, M. (2015). Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. Pediatr Neurol, 53(5), 452–455. http://doi.org/10.1016/j.pediatrneurol.2015.06.020

    Dean, M., Rashid, S., Kupsky, W., Moore, S. A., & Jiang, H. (2017). Child Neurology: LAMA2 muscular dystrophy without contractures. Neurology, 88(21), e199–e203. http://doi.org/10.1212/WNL.0000000000003958

    Dooley, J. M., Gordon, K. E., Brna, P. M., Wood, E. P., Mohamed, I. S., MacDonald, E., & Jackson-Tarlton, C. (2014). What do patients and families want from a child neurology consultation? Journal of Child Neurology, 29(12), 1699–1703. http://doi.org/10.1177/0883073813511857

    Fahed, A. C., McDonough, B., Gouvion, C. M., Newell, K. L., Dure, L. S., Bebin, M., et al. (2014). UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration. Annals of Neurology, 75(5), 793–798. http://doi.org/10.1002/ana.24164

    Gianfrancesco, M. A., Stridh, P., Rhead, B., Shao, X., Xu, E., Graves, J. S., et al. (2017). Evidence for a causal relationship between low vitamin D, high BMI, and pediatric-onset MS. Neurology, 88(17), 1623–1629. http://doi.org/10.1212/WNL.0000000000003849

    Goyal, M., Thompson, M., Reddy, A., Harrison, A., & Blount, J. (2014). Epilepsy surgery in bifrontal injury from prior craniopharyngioma resections. Epilepsy & Behavior Case Reports, 2, 4–7. http://doi.org/10.1016/j.ebcr.2013.11.001

    Graves, J., Grandhe, S., Weinfurtner, K., Krupp, L., Belman, A., Chitnis, T., et al. (2014). Protective environmental factors for neuromyelitis optica. Neurology, 83(21), 1923–1929. http://doi.org/10.1212/WNL.0000000000001001

    Griessenauer, C. J., Bilal, M., Kankirawatana, P., Kulbersh, B., Tubbs, R. S., & Rozzelle, C. (2014). Lymphatic malformation of the tongue with coexisting intractable epilepsy treated with corpus callosotomy: a case report. Clinical Neurology and Neurosurgery, 117, 68–70. http://doi.org/10.1016/j.clineuro.2013.11.024

    Harroud, A., Boucher, O., Tran, T. P. Y., Harris, L., Hall, J., Dubeau, F., et al. (2017). Precuneal epilepsy: Clinical features and surgical outcome. Epilepsy & Behavior : E&B, 73, 77–82. http://doi.org/10.1016/j.yebeh.2017.05.018

    Herrera, J. A., Ward, C. S., Pitcher, M. R., Percy, A. K., Skinner, S., Kaufmann, W. E., et al. (2015). Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. Disease Models & Mechanisms, 8(4), 363–371. http://doi.org/10.1242/dmm.020131

    Huntington Study Group PHAROS Investigators, Biglan, K. M., Shoulson, I., Kieburtz, K., Oakes, D., Kayson, E., et al. (2016). Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. JAMA Neurology, 73(1), 102–110. http://doi.org/10.1001/jamaneurol.2015.2736

    Ignatius, M. S., Hayes, M. N., Lobbardi, R., Chen, E. Y., McCarthy, K. M., Sreenivas, P., et al. (2017). The NOTCH1/SNAIL1/MEF2C Pathway Regulates Growth and Self-Renewal in Embryonal Rhabdomyosarcoma. Cell Reports, 19(11), 2304–2318. http://doi.org/10.1016/j.celrep.2017.05.061

    Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., et al. (2016). Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. Plos One, 11(2), e0146824. http://doi.org/10.1371/journal.pone.0146824

    Kalman, L. V., Tarleton, J. C., Percy, A. K., Aradhya, S., Bale, S., Barker, S. D., et al. (2014). Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. The Journal of Molecular Diagnostics : JMD, 16(2), 273–279. http://doi.org/10.1016/j.jmoldx.2013.11.004

    Kawahara, G., Gasperini, M. J., Myers, J. A., Widrick, J. J., Eran, A., Serafini, P. R., et al. (2014). Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Human Molecular Genetics, 23(7), 1869–1878. http://doi.org/10.1093/hmg/ddt579

    Kawahara, G., Gasperini, M. J., Myers, J. A., Widrick, J. J., Eran, A., Serafini, P. R., et al. (2015). Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Human Molecular Genetics, 24(15), 4480–4481. http://doi.org/10.1093/hmg/ddv169

    Killian, J. T., Lane, J. B., Cutter, G. R., Skinner, S. A., Kaufmann, W. E., Tarquinio, D. C., et al. (2014). Pubertal development in Rett syndrome deviates from typical females. Pediatr Neurol, 51(6), 769–775. http://doi.org/10.1016/j.pediatrneurol.2014.08.013

    Killian, J. T., Lane, J. B., Lee, H.-S., Pelham, J. H., Skinner, S. A., Kaufmann, W. E., et al. (2016). Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr Neurol, 58, 67–74. http://doi.org/10.1016/j.pediatrneurol.2015.12.021

    Killian, J. T., Lane, J. B., Lee, H.-S., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., et al. (2017). Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol, 70, 20–25. http://doi.org/10.1016/j.pediatrneurol.2017.01.032

    Kuhlman, A., Rashid, S., & Agarwal, R. (2016). Double Whammy: Trauma Leading to Sequential Bilateral Facial Nerve Palsy. Pediatr Neurol, 59, 95–96. http://doi.org/10.1016/j.pediatrneurol.2016.02.008

    Lane, J. B., Salter, A. R., Jones, N. E., Cutter, G., Horrigan, J., Skinner, S. A., et al. (2017). Assessment of Caregiver Inventory for Rett Syndrome. Journal of Autism and Developmental Disorders, 47(4), 1102–1112. http://doi.org/10.1007/s10803-017-3034-3

    Leventer, R. J., Jansen, F. E., Mandelstam, S. A., Ho, A., Mohamed, I., Sarnat, H. B., et al. (2014). Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility. Epilepsia, 55(3), e22–6. http://doi.org/10.1111/epi.12533

    Lobbous, M., Williams, S., & Rashid, S. (2017). Child Neurology: Childhood basilar artery occlusion and stroke. Neurology, 89(7), e68–e70. http://doi.org/10.1212/WNL.0000000000004243

    Lovett, M., Skidmore, D. L., & Mohamed, I. S. (2014). Valproate-induced pseudoatrophy: expanding the clinical and imaging spectrum. Pediatr Neurol, 51(2), 284–285. http://doi.org/10.1016/j.pediatrneurol.2014.04.019

    McDonald, J., Graves, J., Waldman, A., Lotze, T., Schreiner, T., Belman, A., et al. (2016). A case-control study of dietary salt intake in pediatric-onset multiple sclerosis. Multiple Sclerosis and Related Disorders, 6, 87–92. http://doi.org/10.1016/j.msard.2016.02.011

    McGarry, A., McDermott, M., Kieburtz, K., de Blieck, E. A., Beal, F., Marder, K., et al. (2017). A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease. Neurology, 88(2), 152–159. http://doi.org/10.1212/WNL.0000000000003478

    Neul, J. L., Glaze, D. G., Percy, A. K., Feyma, T., Beisang, A., Dinh, T., et al. (2015). Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. Journal of Child Neurology, 30(13), 1743–1748. http://doi.org/10.1177/0883073815579707

    Neul, J. L., Lane, J. B., Lee, H.-S., Geerts, S., Barrish, J. O., Annese, F., et al. (2014). Developmental delay in Rett syndrome: data from the natural history study. Journal of Neurodevelopmental Disorders, 6(1), 20. http://doi.org/10.1186/1866-1955-6-20

    Nourbakhsh, B., Graves, J., Casper, T. C., Lulu, S., Waldman, A., Belman, A., et al. (2016). Dietary salt intake and time to relapse in paediatric multiple sclerosis. Journal of Neurology Neurosurgery and Psychiatry, 87(12), 1350–1353. http://doi.org/10.1136/jnnp-2016-313410

    Novara, S., Singh, S., & Rashid, S. (2017). “Ivy Sign” and Moyamoya Disease in a Child With Neurofibromatosis Type 1. Pediatr Neurol, 70, 80. http://doi.org/10.1016/j.pediatrneurol.2017.02.005

    Pakpoor, J., Seminatore, B., Graves, J. S., Schreiner, T., Waldman, A. T., Lotze, T. E., et al. (2017). Dietary factors and pediatric multiple sclerosis: A case-control study. Multiple Sclerosis (Houndmills, Basingstoke, England), 1352458517713343. http://doi.org/10.1177/1352458517713343

    Percy, A. (2014). The American history of Rett syndrome. Pediatr Neurol, 50(1), 1–3. http://doi.org/10.1016/j.pediatrneurol.2013.08.018

    Percy, A. K. (2016). Progress in Rett Syndrome: from discovery to clinical trials. Wiener medizinische Wochenschrift (1946) (Vol. 166, pp. 325–332). http://doi.org/10.1007/s10354-016-0491-9

    Percy, A., & Kyllerman, M. (2015). In Memoriam: Bengt Arthur Hagberg, MD, PhD August 9, 1923-April 12, 2015. Pediatric neurology (Vol. 53, pp. 105–107). http://doi.org/10.1016/j.pediatrneurol.2015.04.014

    Percy, A., & Kyllerman, M. (2017). In Memoriam. Journal of Child Neurology, 32(2), 252–254. http://doi.org/10.1177/0883073816670814

    Pozzo-Miller, L., Pati, S., & Percy, A. K. (2015). Rett Syndrome: Reaching for Clinical Trials. Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics, 12(3), 631–640. http://doi.org/10.1007/s13311-015-0353-y

    Rashid, S., Dean, M., & Jiang, H. (2017). Case 3: Chronic Muscle Pain in a 15-year-old Girl. Pediatrics in Review, 38(7), 334–334. http://doi.org/10.1542/pir.2016-0041

    Rashid, S., Dean, M., & Serajee, F. (2016a). “Molar Tooth Sign” Reveals the Cause of Apnea in a Term Neonate. The Journal of Pediatrics, 174, 275–275.e1. http://doi.org/10.1016/j.jpeds.2016.03.076

    Rashid, S., Hanba, C., & Agarwal, R. (2016b). Facial weakness in a newborn. Journal of Paediatrics and Child Health, 52(8), 848–848. http://doi.org/10.1111/jpc.1_13089

    Rashid, S., Saleem, S., & Luat, A. F. (2016c). Sjögren-Larsson Syndrome: A Neuro-Ichthyotic Disorder With Unique Magnetic Resonance Features. Pediatr Neurol, 62, 73–74. http://doi.org/10.1016/j.pediatrneurol.2016.02.019

    Rashid, S., Watson, C., & Agarwal, R. (2016d). Episodic Headache and Arachnoid Cyst Related Subdural Hematoma. Headache, 56(8), 1354–1355. http://doi.org/10.1111/head.12846

    Sajan, S. A., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Lupski, J. R., Glaze, D. G., et al. (2017). Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in Medicine, 19(1), 13–19. http://doi.org/10.1038/gim.2016.42

    Sheikh, T. I., Ausió, J., Faghfoury, H., Silver, J., Lane, J. B., Eubanks, J. H., et al. (2016). From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. Scientific Reports, 6(1), 38590. http://doi.org/10.1038/srep38590

    Sohrabpour, A., Lu, Y., Kankirawatana, P., Blount, J., Kim, H., & He, B. (2015). Effect of EEG electrode number on epileptic source localization in pediatric patients. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 126(3), 472–480. http://doi.org/10.1016/j.clinph.2014.05.038

    Tarquinio, D. C., Hou, W., Berg, A., Kaufmann, W. E., Lane, J. B., Skinner, S. A., et al. (2017). Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain, 140(Pt 2), 306–318. http://doi.org/10.1093/brain/aww302

    Tarquinio, D. C., Hou, W., Neul, J. L., Kaufmann, W. E., Glaze, D. G., Motil, K. J., et al. (2015a). The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatr Neurol, 53(5), 402–411. http://doi.org/10.1016/j.pediatrneurol.2015.06.003

    Tarquinio, D. C., Hou, W., Neul, J. L., Lane, J. B., Barnes, K. V., O'Leary, H. M., et al. (2015b). Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis. Pediatr Neurol, 52(6), 585–91.e2. http://doi.org/10.1016/j.pediatrneurol.2015.02.007

    Tran, T. P. Y., Truong, V. T., Wilk, M., Tayah, T., Bouthillier, A., Mohamed, I., & Nguyen, D. K. (2014). Different localizations underlying cortical gelastic epilepsy: case series and review of literature. Epilepsy & Behavior : E&B, 35, 34–41. http://doi.org/10.1016/j.yebeh.2014.03.024

    Vieira, N. M., Elvers, I., Alexander, M. S., Moreira, Y. B., Eran, A., Gomes, J. P., et al. (2015). Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell, 163(5), 1204–1213. http://doi.org/10.1016/j.cell.2015.10.049

    Vieira, N. M., Spinazzola, J. M., Alexander, M. S., Moreira, Y. B., Kawahara, G., Gibbs, D. E., et al. (2017). Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America, 114(23), 6080–6085. http://doi.org/10.1073/pnas.1703556114

    Waldman, A., Ness, J., Pohl, D., Simone, I. L., Anlar, B., Amato, M. P., & Ghezzi, A. (2016). Pediatric multiple sclerosis: Clinical features and outcome. Neurology, 87(9 Suppl 2), S74–81. http://doi.org/10.1212/WNL.0000000000003028

    Ward, C. S., Huang, T.-W., Herrera, J. A., Samaco, R. C., Pitcher, M. R., Herron, A., et al. (2016). Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. Plos One, 11(11), e0165550. http://doi.org/10.1371/journal.pone.0165550

    Weinfurtner, K., Graves, J., Ness, J., Krupp, L., Milazzo, M., & Waubant, E. (2015). Prolonged Remission in Neuromyelitis Optica Following Cessation of Rituximab Treatment. Journal of Child Neurology, 30(10), 1366–1370. http://doi.org/10.1177/0883073814553974

    Wu, J. Y., Peters, J. M., Goyal, M., Krueger, D., Sahin, M., Northrup, H., et al. (2016). Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol, 54, 29–34. http://doi.org/10.1016/j.pediatrneurol.2015.09.013

    Xiao, H., Tran, T. P. Y., Pétrin, M., Boucher, O., Mohamed, I., Bouthillier, A., & Nguyen, D. K. (2016). Reflex operculoinsular seizures. Epileptic Disorders : International Epilepsy Journal with Videotape, 18(1), 19–25. http://doi.org/10.1684/epd.2016.0801

    Zerouali, Y., Pouliot, P., Robert, M., Mohamed, I., Bouthillier, A., Lesage, F., & Nguyen, D. K. (2016). Magnetoencephalographic signatures of insular epileptic spikes based on functional connectivity. Human Brain Mapping, 37(9), 3250–3261. http://doi.org/10.1002/hbm.23238