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).

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.

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

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