Research Overview

Phillip L. Pearl, M.D. is Director of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital and William G. Lennox Chair and Professor of Neurology at Harvard Medical School. Dr. Pearl, originally from Baltimore, attended Johns Hopkins University and Peabody Conservatory of Music, and University of Maryland School of Medicine. He took his residency at Baylor College of Medicine in Houston and fellowship at Boston Children’s Hospital.

He was Division Chief of Neurology at Children’s National Medical Center and Professor of Neurology, Pediatrics, and Music at the George Washington University School of Medicine in Washington, DC, where he spent 23 years from 1990-2013, until relocating to Boston in January 2014. Dr. Pearl is Past President of the Child Neurology Society and the Professors of Child Neurology, and was a member of the Neurology Residency Review Committee of the ACGME. He is currently on the Boards of the International Child Neurology Association (ICNA) and the National Organization of Rare Disorders (NORD).

Dr. Pearl is the leader of the music and neuroscience curriculum for ICNA’s Neurology Through Art and Time (NTAT) series. Dr. Pearl has authored over 250 manuscripts and over 100 chapters, has written or edited five books in neurology, and is currently the co-editor in chief for the upcoming (seventh) edition of the classic textbook, Swaiman’s Pediatric Neurology. In 2025, there is anticipated release of a new book, The Neurobiology of Creativity, by Cambridge University Press.

Research Background

Phillip L. Pearl, M.D. is Director of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital and William G. Lennox Chair and Professor of Neurology at Harvard Medical School.  Dr. Pearl, originally from Baltimore, attended Johns Hopkins University and Peabody Conservatory of Music, and University of Maryland School of Medicine.  He took his residency at Baylor College of Medicine in Houston and fellowship at Boston Children’s Hospital.  He was Division Chief of Neurology at Children’s National Medical Center and Professor of Neurology, Pediatrics, and Music at the George Washington University School of Medicine in Washington, DC, where he spent 23 years from 1990-2013, until relocating to Boston in January 2014. Dr. Pearl just recently completed his 2-year term as President of the Professors of Child Neurology and 6-year term as a member of the Neurology Residency Review Committee of the ACGME.

 

Education

Medical School

University of Maryland School of Medicine
1984 Baltimore MD

Residency

Pediatrics Baylor College of Medicine
1986 Houston TX

Residency

Neurology and Child Neurology Baylor College of Medicine
1989 Houston TX

Fellowship

Clinical Neurophysiology Boston Children's Hospital, Beth Israel Hospital, Harvard Medical School
1990 Boston MA

Media

Caregiver Profile

Meet Dr. Phillip Pearl

Epilepsy Q&A

Watch as Dr. Phillip Pearl answers questions about epilepsy.

ICNApedia

Dr. Phillip Pearl is feature in ICNA's new monthly initiative entitled ‘Neurology through Art and Time’

Publications

  1. Epilepsy-Dyskinesia Syndromes: The Venn Diagram of Genetic Epilepsy and Movement Disorders. Mov Disord. 2026 Aug 03. View Abstract
  2. Deciphering the molecular impact of ALDH5A1 missense variants in succinic semialdehyde dehydrogenase deficiency through combined in vitro and in silico approaches. Sci Rep. 2026 Jul 17. View Abstract
  3. Reconciling the Use of Human Fetal Tissue in Research. Ann Child Neurol Soc. 2026 Jun; 4(2):112-114. View Abstract
  4. Comparison of Myeloarchitectonic Feature Recognition of the Primary Visual Cortex at 7?T Relative to 3?T MRI. J Magn Reson Imaging. 2026 07; 64(1):201-208. View Abstract
  5. Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility. bioRxiv. 2026 Mar 26. View Abstract
  6. Predicting surgical outcome in drug-resistant epilepsy by combining interictal biomarkers within a machine learning framework. Sci Rep. 2026 Mar 26; 16(1). View Abstract
  7. International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey. Neurology. 2026 Apr 14; 106(7):e214760. View Abstract
  8. Pediatric frontal lobe epilepsy surgery: long-term neuropsychological outcomes and their predictors. Epilepsy Behav. 2026 Jun; 179:110984. View Abstract
  9. A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy. Mol Genet Metab. 2026 Jun; 148(2):109871. View Abstract
  10. Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up. J Inherit Metab Dis. 2026 Mar; 49(2):e70151. View Abstract
  11. Predicting Surgical Outcome in Drug-Resistant Epilepsy by Combining Interictal Biomarkers within a Machine Learning Framework. Res Sq. 2026 Feb 17. View Abstract
  12. The sudden unexpected death in epilepsy grief study. Epilepsy Behav. 2026 Apr; 177:110932. View Abstract
  13. Not Just Half a Doctor: Promoting Humanism During Stressful Times. Ann Child Neurol Soc. 2026 Feb 11. View Abstract
  14. Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients. Brain. 2026 Feb 07; 149(2):563-578. View Abstract
  15. Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency. JIMD Rep. 2026 Mar; 67(2):e70072. View Abstract
  16. SUDEP Awareness and Effect on Parental Trauma, Grief, and Coping After the Death of a Child: A Qualitative Investigation. Neurology. 2026 Mar 10; 106(5):e214623. View Abstract
  17. Fetal Pain Perception: Legislative Assertions and Developmental Neuroscience. Ann Child Neurol Soc. 2026 Mar; 4(1):15-28. View Abstract
  18. Evidence of language network reorganization and compromised cognitive functioning in pediatric patients with focal refractory epilepsy. Epilepsy Behav. 2025 Nov; 172:110739. View Abstract
  19. Targeting interictal low-entropy zones during epilepsy surgery predicts successful outcomes in pediatric drug-resistant epilepsy. Epilepsia. 2026 01; 67(1):33-48. View Abstract
  20. The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy. Ann Child Neurol Soc. 2025 Aug 25. View Abstract
  21. Central Dysmyelination in SSADH-Deficient Humans and Mice. Ann Clin Transl Neurol. 2025 11; 12(11):2193-2205. View Abstract
  22. Eating disorders in adolescents with functional seizures. Epilepsy Behav. 2025 Nov; 172:110402. View Abstract
  23. Noninvasive classification of physiological and pathological high frequency oscillations in children. Brain Commun. 2025; 7(3):fcaf170. View Abstract
  24. SUDEP in inherited metabolic epilepsies. Epilepsy Behav. 2025 Jul; 168:110422. View Abstract
  25. Update on inherited disorders of GABA metabolism. Eur J Paediatr Neurol. 2025 May; 56:10-16. View Abstract
  26. Neuroimaging in Children With Inherited Metabolic Epilepsies. Neurology. 2025 Apr 22; 104(8):e213485. View Abstract
  27. Epilepsy syndromes classification. Epilepsia Open. 2025 Mar 22. View Abstract
  28. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Brain Commun. 2025; 7(2):fcaf113. View Abstract
  29. Machine learning on interictal intracranial EEG predicts surgical outcome in drug resistant epilepsy. NPJ Digit Med. 2025 Mar 05; 8(1):138. View Abstract
  30. Spikes on ripples are better interictal biomarkers of epilepsy than spikes or ripples. Brain Commun. 2025; 7(1):fcaf056. View Abstract
  31. The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism. Mol Genet Metab. 2025 Mar; 144(3):109051. View Abstract
  32. Inherited metabolic epilepsies-established diseases, new approaches. Epilepsia Open. 2024 Dec 27. View Abstract
  33. Creativity and its link to epilepsy. Epilepsia Open. 2024 Nov 26. View Abstract
  34. Editorial: Seizures in brain tumors. Front Surg. 2024; 11:1504572. View Abstract
  35. Overlap of spike and ripple propagation onset predicts surgical outcome in epilepsy. Ann Clin Transl Neurol. 2024 10; 11(10):2530-2547. View Abstract
  36. Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society. Neurology. 2024 Sep 10; 103(5):e209746. View Abstract
  37. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract
  38. In Search of a Common Language: The Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2024 Jul 01; 41(5):405-409. View Abstract
  39. Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. Front Genet. 2024; 15:1405468. View Abstract
  40. Predictive factors for seizure freedom after epilepsy surgery for pediatric low-grade tumors and focal cortical dysplasia. Epilepsy Behav Rep. 2024; 27:100680. View Abstract
  41. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024 06; 11(6):1643-1647. View Abstract
  42. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. J Neurodev Disord. 2024 04 24; 16(1):21. View Abstract
  43. Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. Stem Cell Res. 2024 06; 77:103424. View Abstract
  44. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2024 05; 47(3):476-493. View Abstract
  45. The neurology of creativity: 2023 Hower lecture. Ann Child Neurol Soc. 2024 Mar; 2(1):6-14. View Abstract
  46. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024 05; 142(1):108363. View Abstract
  47. The promise of personalized medicine in pediatric epilepsy - The time has come. Eur J Paediatr Neurol. 2024 Jan; 48:A3. View Abstract
  48. Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency. Clin Neurophysiol. 2024 05; 161:52-58. View Abstract
  49. Interictal EEG source connectivity to localize the epileptogenic zone in patients with drug-resistant epilepsy: A machine learning approach. Epilepsia. 2024 Apr; 65(4):944-960. View Abstract
  50. Treatable inherited metabolic epilepsies. Epilepsy Behav. 2024 02; 151:109621. View Abstract
  51. Patient selection considerations for AADC deficiency gene therapy. Ann Child Neurol Soc. 2024 Mar; 2(1):53-59. View Abstract
  52. Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. J Sleep Res. 2024 08; 33(4):e14105. View Abstract
  53. ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 01; 190:106386. View Abstract
  54. Deep Learning-Based Visual Complexity Analysis of Electroencephalography Time-Frequency Images: Can It Localize the Epileptogenic Zone in the Brain? Algorithms. 2023 Dec; 16(12). View Abstract
  55. Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS). Epilepsia. 2024 01; 65(1):46-56. View Abstract
  56. Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Hum Genet. 2023 Dec; 142(12):1755-1776. View Abstract
  57. Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of ?-aminobutyric acid metabolism. Brain Commun. 2023; 5(6):fcad291. View Abstract
  58. Sleep Spindle Generation Before and After Epilepsy Surgery: A Source Imaging Study in Children with Drug-Resistant Epilepsy. Brain Topogr. 2024 01; 37(1):88-101. View Abstract
  59. Characterizing, classifying, and collecting spells in paroxysmal disorders - A need as targeted therapies approach for childhood neurological disorders. Eur J Paediatr Neurol. 2023 Sep; 46:A2. View Abstract
  60. Eating disorders occur at high rates in adolescents with epilepsy and are associated with psychiatric comorbidities and suicidality. Epilepsia. 2023 11; 64(11):2982-2992. View Abstract
  61. Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy. Brain. 2023 09 01; 146(9):3898-3912. View Abstract
  62. Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Mol Genet Metab. 2023 11; 140(3):107690. View Abstract
  63. Comment: Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2023 10; 47:101073. View Abstract
  64. Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. Res Sq. 2023 Jul 10. View Abstract
  65. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Mol Genet Metab. 2023 Aug; 139(4):107647. View Abstract
  66. Electromagnetic source imaging predicts surgical outcome in children with focal cortical dysplasia. Clin Neurophysiol. 2023 09; 153:88-101. View Abstract
  67. Functional connectivity discriminates epileptogenic states and predicts surgical outcome in children with drug resistant epilepsy. Sci Rep. 2023 06 14; 13(1):9622. View Abstract
  68. Comparison of fMRI language laterality with and without sedation in pediatric epilepsy. Neuroimage Clin. 2023; 38:103448. View Abstract
  69. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Mol Genet Metab. 2023 07; 139(3):107624. View Abstract
  70. Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2023 09; 46(5):992-1003. View Abstract
  71. Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency. Dev Med Child Neurol. 2023 12; 65(12):1596-1606. View Abstract
  72. Developmental milestones as ACNS turns one year old. Ann Child Neurol Soc. 2023 Jun; 1(2):88-89. View Abstract
  73. Non-invasive mapping of epileptogenic networks predicts surgical outcome. Brain. 2023 05 02; 146(5):1916-1931. View Abstract
  74. The presence and severity of epilepsy coincide with reduced ?-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency. Epilepsia. 2023 06; 64(6):1516-1526. View Abstract
  75. Treatment of neurometabolic epilepsies: Overview and recent advances. Epilepsy Behav. 2023 05; 142:109181. View Abstract
  76. New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Neurology. 2023 07 18; 101(3):124-133. View Abstract
  77. Burden of illness in aromatic l-amino acid decarboxylase deficiency. Ann Child Neurol Soc. 2023 Mar; 1(1):75-81. View Abstract
  78. Fetal anomaly diagnosis and termination of pregnancy. Dev Med Child Neurol. 2023 07; 65(7):900-907. View Abstract
  79. Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. Seizure. 2023 Mar; 106:58-67. View Abstract
  80. And so we begin: Introducing the Annals of the Child Neurology Society. Ann Child Neurol Soc. 2023 Mar; 1(1):4-6. View Abstract
  81. Stereoelectroencephalography followed by combined electrode removal and MRI-guided laser interstitial thermal therapy or open resection: a single-center series in pediatric patients with medically refractory epilepsy. J Neurosurg Pediatr. 2023 03 01; 31(3):206-211. View Abstract
  82. Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease. Neurology. 2022 12 05; 99(23):1025-1026. View Abstract
  83. Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome. Neurosurgery. 2022 10 01; 91(4):583-589. View Abstract
  84. Intelligent biomarker panel development for neurometabolic disease. Dev Med Child Neurol. 2022 12; 64(12):1441-1442. View Abstract
  85. Reply to "Added value of high-resolution electrical source imaging of ictal activity in children with structural focal epilepsy". Clin Neurophysiol. 2022 08; 140:254-255. View Abstract
  86. Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. Eur J Paediatr Neurol. 2022 07; 39:A3. View Abstract
  87. Virtual implantation using conventional scalp EEG delineates seizure onset and predicts surgical outcome in children with epilepsy. Clin Neurophysiol. 2022 07; 139:49-57. View Abstract
  88. Autonomic risks in Alternating Hemiplegia of Childhood. Eur J Paediatr Neurol. 2022 05; 38:A3. View Abstract
  89. Single-stage resection of bottom-of-a-sulcus dysplasia involving eloquent cortex using navigated transcranial magnetic stimulation and intraoperative modalities. Childs Nerv Syst. 2022 07; 38(7):1365-1370. View Abstract
  90. Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. Diagnostics (Basel). 2022 Apr 18; 12(4). View Abstract
  91. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Int J Mol Sci. 2022 Feb 26; 23(5). View Abstract
  92. Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol. J Child Neurol. 2022 01; 37(1):5-11. View Abstract
  93. Proceedings of the International SSADH Deficiency 2020 Conference. J Child Neurol. 2021 11; 36(13-14):1151-1152. View Abstract
  94. Novel Seizure Biomarkers in Continuous Electrocardiograms from Pediatric Epilepsy Patients. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:382-385. View Abstract
  95. Mapping Propagation of Interictal Spikes, Ripples, and Fast Ripples in Intracranial EEG of Children with Refractory Epilepsy. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:194-197. View Abstract
  96. Mapping Functional Connectivity of Epileptogenic Networks through Virtual Implantation. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:408-411. View Abstract
  97. Electric Source Imaging on Intracranial EEG Localizes Spatiotemporal Propagation of Interictal Spikes in Children with Epilepsy. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:2668-2671. View Abstract
  98. A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2021 Nov 01; 38(6):509-515. View Abstract
  99. Comparison of the real-world effectiveness of vertical versus lateral functional hemispherotomy techniques for pediatric drug-resistant epilepsy: A post hoc analysis of the HOPS study. Epilepsia. 2021 11; 62(11):2707-2718. View Abstract
  100. Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. J Child Neurol. 2021 11; 36(13-14):1223-1230. View Abstract
  101. Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021 09 07; 13(9):e14712. View Abstract
  102. Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. Ann Neurol. 2021 10; 90(4):537-538. View Abstract
  103. Changes in the Functional Brain Network of Children Undergoing Repeated Epilepsy Surgery: An EEG Source Connectivity Study. Diagnostics (Basel). 2021 Jul 09; 11(7). View Abstract
  104. Remembrance of Things Past: A Critical Step in Changing our Future. Ann Neurol. 2021 10; 90(4):521-523. View Abstract
  105. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec; 137(4):436-444. View Abstract
  106. Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification. J Clin Neurophysiol. 2023 Feb 01; 40(2):130-135. View Abstract
  107. Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. J Child Neurol. 2021 11; 36(13-14):1169-1176. View Abstract
  108. A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1189-1199. View Abstract
  109. Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. Clin Neurophysiol. 2021 07; 132(7):1622-1635. View Abstract
  110. Presurgical accuracy of dipole clustering in MRI-negative pediatric patients with epilepsy: Validation against intracranial EEG and resection. Clin Neurophysiol. 2022 09; 141:126-138. View Abstract
  111. Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. Ann Neurol. 2021 05; 89(5):911-925. View Abstract
  112. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. J Child Neurol. 2021 11; 36(13-14):1210-1217. View Abstract
  113. Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. Epilepsia. 2021 05; 62(5):1064-1073. View Abstract
  114. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity. J Child Neurol. 2021 11; 36(13-14):1200-1209. View Abstract
  115. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1162-1168. View Abstract
  116. Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. J Child Neurol. 2021 06; 36(7):575-582. View Abstract
  117. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021 11; 36(13-14):1153-1161. View Abstract
  118. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 01; 44(1):178-192. View Abstract
  119. Child neurology, COVID-19, and crisis in society. Dev Med Child Neurol. 2020 10; 62(10):1113. View Abstract
  120. Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Orphanet J Rare Dis. 2020 09 23; 15(1):261. View Abstract
  121. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 11 10; 95(19):e2675-e2682. View Abstract
  122. A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes (Basel). 2020 09 02; 11(9). View Abstract
  123. How the jazz medium can inform interprofessional health care teams in improving patient care. Med Teach. 2020 12; 42(12):1337-1342. View Abstract
  124. Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. Neurol Clin Pract. 2020 Aug; 10(4):356-361. View Abstract
  125. Reply to Russo and Trabacca. Pediatr Neurol. 2020 11; 112:1. View Abstract
  126. Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature. World Neurosurg. 2020 10; 142:450-455. View Abstract
  127. EEG features of brain injury during extracorporeal membrane oxygenation in children. Neurology. 2020 09 08; 95(10):e1372-e1380. View Abstract
  128. The President, Past President, Executive Director, and the Board of the Child Neurology Society Denounce Racism and Inequality. Ann Neurol. 2020 08; 88(2):209-210. View Abstract
  129. Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol. 2020 10; 35(12):828-834. View Abstract
  130. Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217. View Abstract
  131. Epileptic Activity Intrinsically Generated in the Human Cerebellum. Ann Neurol. 2020 08; 88(2):418-422. View Abstract
  132. Practical Bioethics during the Exceptional Circumstances of a Pandemic. Pediatr Neurol. 2020 07; 108:3-4. View Abstract
  133. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View Abstract
  134. Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. Ann Clin Transl Neurol. 2020 03; 7(3):329-342. View Abstract
  135. Ictal and interictal source imaging on intracranial EEG predicts epilepsy surgery outcome in children with focal cortical dysplasia. Clin Neurophysiol. 2020 03; 131(3):734-743. View Abstract
  136. Noninvasive Localization of High-Frequency Oscillations in Children with Epilepsy: Validation against Intracranial Gold-Standard. Annu Int Conf IEEE Eng Med Biol Soc. 2019 Jul; 2019:1555-1558. View Abstract
  137. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Mol Genet Genomic Med. 2019 05; 7(5):e629. View Abstract
  138. Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy. Clin Neurophysiol. 2019 04; 130(4):491-504. View Abstract
  139. GABA Transaminase Deficiency With Survival Into Adulthood. J Child Neurol. 2019 03; 34(4):216-220. View Abstract
  140. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019 01; 6(1):114-120. View Abstract
  141. Non-invasive Seizure Localization with Ictal Single-Photon Emission Computed Tomography is Impacted by Preictal/Early Ictal Network Dynamics. IEEE Trans Biomed Eng. 2018 Nov 09. View Abstract
  142. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 10 04; 103(4):631. View Abstract
  143. Surgical resection of ripple onset predicts outcome in pediatric epilepsy. Ann Neurol. 2018 09; 84(3):331-346. View Abstract
  144. Magnetoencephalographic Mapping of Epileptic Spike Population Using Distributed Source Analysis: Comparison With Intracranial Electroencephalographic Spikes. J Clin Neurophysiol. 2018 Jul; 35(4):339-345. View Abstract
  145. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007. View Abstract
  146. GABA: no longer the faithful neurotransmitter. Dev Med Child Neurol. 2018 08; 60(8):734. View Abstract
  147. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View Abstract
  148. Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Pediatr Neurol. 2018 06; 83:25-31. View Abstract
  149. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. View Abstract
  150. Seizure clustering during presurgical electroencephalographic monitoring in children. Epilepsy Behav. 2018 03; 80:291-295. View Abstract
  151. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):186-209. View Abstract
  152. Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Epilepsia. 2018 01; 59(1):37-66. View Abstract
  153. Response to clobazam in continuous spike-wave during sleep. Dev Med Child Neurol. 2018 03; 60(3):283-289. View Abstract
  154. Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. J Clin Neurophysiol. 2017 Sep; 34(5):421-426. View Abstract
  155. Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. J Child Neurol. 2017 Sep; 32(10):880-885. View Abstract
  156. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View Abstract
  157. Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy. J Child Neurol. 2017 07; 32(8):774-788. View Abstract
  158. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View Abstract
  159. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. View Abstract
  160. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2017; 36:93-98. View Abstract
  161. Aberrant mTOR signaling and disrupted autophagy: The missing link in potential vigabatrin-associated ocular toxicity? Clin Pharmacol Ther. 2017 04; 101(4):458-461. View Abstract
  162. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia. 2017 03; 58(3):436-445. View Abstract
  163. Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Front Neurol. 2017; 8:14. View Abstract
  164. Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Epilepsia. 2017 03; 58(3):420-428. View Abstract
  165. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017 01 18; 12(1):12. View Abstract
  166. Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. J Vis Exp. 2016 12 06; (118). View Abstract
  167. Texting Rhythm With Temporal Predominance. J Clin Neurophysiol. 2016 Dec; 33(6):570. View Abstract
  168. The promise of subtraction ictal SPECT co-registered to MRI for improved seizure localization in pediatric epilepsies: Affecting factors and relationship to the surgical outcome. Epilepsy Res. 2017 01; 129:59-66. View Abstract
  169. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017; 34:111-115. View Abstract
  170. Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. J Inherit Metab Dis. 2016 11; 39(6):795-800. View Abstract
  171. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Oct; 2(5):e96. View Abstract
  172. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. J Clin Neurophysiol. 2016 Aug; 33(4):320-3. View Abstract
  173. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View Abstract
  174. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2016; 30:81-87. View Abstract
  175. Automated seizure detection systems and their effectiveness for each type of seizure. Seizure. 2016 Aug; 40:88-101. View Abstract
  176. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Neurochem Int. 2016 10; 99:72-84. View Abstract
  177. Real-time multi-channel monitoring of burst-suppression using neural network technology during pediatric status epilepticus treatment. Clin Neurophysiol. 2016 08; 127(8):2820-2831. View Abstract
  178. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 07; 57(7):1027-35. View Abstract
  179. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 05; 23(2):158-66. View Abstract
  180. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View Abstract
  181. SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View Abstract
  182. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 06; 31(7):938-41. View Abstract
  183. From gene discovery to precision intervention in epilepsy: almost the end of the beginning. Dev Med Child Neurol. 2016 Apr; 58(4):330-1. View Abstract
  184. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Neurodiagn J. 2016; 56(4):266-275. View Abstract
  185. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 05; 58:113-5. View Abstract
  186. Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015 Nov; 52(Pt A):200-4. View Abstract
  187. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 08; 85(10):861-5. View Abstract
  188. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51. View Abstract
  189. Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 01; 85(9):748-9. View Abstract
  190. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View Abstract
  191. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View Abstract
  192. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205. View Abstract
  193. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Dev Med Child Neurol. 2015 Jul; 57(7):611-617. View Abstract
  194. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. View Abstract
  195. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View Abstract
  196. Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014 Sep; 29(9):1249-56. View Abstract
  197. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:23-7. View Abstract
  198. Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatr Neurol. 2014 Sep; 51(3):344-7. View Abstract
  199. International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62. View Abstract
  200. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22; 82(16):1392-4. View Abstract
  201. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4. View Abstract
  202. Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:97. View Abstract
  203. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. View Abstract
  204. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol. 2014 May; 18(3):249-56. View Abstract
  205. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. View Abstract
  206. Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia. 2013 Sep; 54(9):e135-7. View Abstract
  207. Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):196. View Abstract
  208. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013; 2013:124934. View Abstract
  209. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Mol Genet Metab. 2013 Jul; 109(3):255-9. View Abstract
  210. Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia. 2013 Jun; 54(6):1074-82. View Abstract
  211. Monoamine neurotransmitter deficiencies. Handb Clin Neurol. 2013; 113:1819-25. View Abstract
  212. Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep. 2013; 9:139-142. View Abstract
  213. Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Arch Neurol. 2012 Oct; 69(10):1290-5. View Abstract
  214. Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2013; 8:133-7. View Abstract
  215. Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 2012 Aug 21; 79(8):819. View Abstract
  216. Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy Behav. 2012 Aug; 24(4):457-61. View Abstract
  217. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J Inherit Metab Dis. 2013 May; 36(3):401-10. View Abstract
  218. GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology. 2012 Jul 03; 79(1):47-54. View Abstract
  219. The effect of seizure focus on regional language processing areas. Epilepsia. 2012 Jun; 53(6):1044-50. View Abstract
  220. Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Semin Pediatr Neurol. 2011 Sep; 18(3):203-8. View Abstract
  221. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev. 2011 Oct; 33(9):796-805. View Abstract
  222. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011 May; 68(5):665-71. View Abstract
  223. Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. Biochem Mol Biol Educ. 2011 May-Jun; 39(3):191-5. View Abstract
  224. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal. 2011 Aug 01; 15(3):691-718. View Abstract
  225. Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Pediatr Neurol. 2011 Jan; 44(1):1-9. View Abstract
  226. Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol. 2010 Jul; 67(7):890-1. View Abstract
  227. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. J Child Neurol. 2010 Dec; 25(12):1457-61. View Abstract
  228. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010 Apr; 42(4):255-8. View Abstract
  229. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep. 2009 Dec; 32(12):1645-8. View Abstract
  230. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 2009 Aug 11; 73(6):423-9. View Abstract
  231. Neurological problems of jazz legends. J Child Neurol. 2009 Aug; 24(8):1037-42. View Abstract
  232. Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Neurology. 2009 May 26; 72(21):1830-6. View Abstract
  233. Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology. 2009 Mar 24; 72(12):e56. View Abstract
  234. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis. 2009 Apr; 32(2):204-13. View Abstract
  235. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009 Jun; 32(3):343-52. View Abstract
  236. Limitations to plasticity of language network reorganization in localization related epilepsy. Brain. 2009 Feb; 132(Pt 2):347-56. View Abstract
  237. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009 Feb; 50(2):184-94. View Abstract
  238. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008 Jul; 13(7):598-605. View Abstract
  239. A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann. 2008 Jul; 37(7):459-60, 463. View Abstract
  240. Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy Behav. 2008 Jul; 13(1):109-14. View Abstract
  241. Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatr Neurol. 2008 Apr; 38(4):248-51. View Abstract
  242. Infantile seizures: infants are not just little children. Curr Neurol Neurosci Rep. 2008 Mar; 8(2):139-44. View Abstract
  243. Ketogenic diet: stoking energy stores and still posing questions. Exp Neurol. 2008 May; 211(1):11-3. View Abstract
  244. Atypical language in lesional and nonlesional complex partial epilepsy. Neurology. 2007 Oct 30; 69(18):1761-71. View Abstract
  245. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May; 22(5):606-16. View Abstract
  246. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis. 2007 Jun; 30(3):279-94. View Abstract
  247. Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology. 2007 Feb 27; 68(9):655-9. View Abstract
  248. Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; 30(1):2-4. View Abstract
  249. The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Epilepsy Behav. 2007 Feb; 10(1):170-8. View Abstract
  250. Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol. 2006 Nov; 8(6):441-50. View Abstract
  251. Inherited disorders of GABA metabolism. Future Neurol. 2006 Sep; 1(5):631-636. View Abstract
  252. Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Epilepsy Behav. 2006 Sep; 9(2):327-34. View Abstract
  253. Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN. Neurology. 2006 Apr 25; 66(8):1285; author reply 1285. View Abstract
  254. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2006 Feb; 29(1):143-56. View Abstract
  255. Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry. 2005 Dec; 10(12):1059-61. View Abstract
  256. Seizure focus affects regional language networks assessed by fMRI. Neurology. 2005 Nov 22; 65(10):1604-11. View Abstract
  257. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005 Dec; 38(12):1051-8. View Abstract
  258. Use of complementary and alternative therapies in epilepsy: cause for concern. Arch Neurol. 2005 Sep; 62(9):1472-5. View Abstract
  259. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life. 2005 Sep; 57(9):639-44. View Abstract
  260. Pediatric sleep disorders. Prim Care. 2005 Jun; 32(2):549-62. View Abstract
  261. Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Expert Rev Neurother. 2005 May; 5(3):325-31. View Abstract
  262. Seizures and metabolic disease. Curr Neurol Neurosci Rep. 2005 Mar; 5(2):127-33. View Abstract
  263. fMRI language task panel improves determination of language dominance. Neurology. 2004 Oct 26; 63(8):1403-8. View Abstract
  264. Imaging data in autism: from structure to malfunction. Semin Pediatr Neurol. 2004 Sep; 11(3):205-13. View Abstract
  265. 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Clin Dysmorphol. 2004 Jul; 13(3):191-194. View Abstract
  266. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clin Neurophysiol. 2004 Jun; 115(6):1417-22. View Abstract
  267. Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol. 2004 Apr; 17(2):107-13. View Abstract
  268. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004 Apr; 55(4):599; author reply 599. View Abstract
  269. Pediatric neurotransmitter diseases. Curr Neurol Neurosci Rep. 2004 Mar; 4(2):147-52. View Abstract
  270. A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Pediatrics. 2003 Nov; 112(5):e404. View Abstract
  271. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry. 2003 Oct 01; 54(7):763-8. View Abstract
  272. Landau-Kleffner syndrome. Arch Neurol. 2003 Jul; 60(7):1019-21. View Abstract
  273. Sleep problems, stimulants, and ADHD: true, true, unrelated? Sleep Med. 2003 Jul; 4(4):271-2. View Abstract
  274. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13; 60(9):1413-7. View Abstract
  275. The neurobiology of autism: new pieces of the puzzle. Curr Neurol Neurosci Rep. 2003 Mar; 3(2):149-56. View Abstract
  276. Too much energy for rest. Sleep problems in children with ADHD. Adv Nurse Pract. 2003 Feb; 11(2):57-8, 91. View Abstract
  277. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol. 2003; 54 Suppl 6:S25-31. View Abstract
  278. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol. 2003; 54 Suppl 6:S73-80. View Abstract
  279. Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol. 2003; 54 Suppl 6:S81-90. View Abstract
  280. Language dominance in partial epilepsy patients identified with an fMRI reading task. Neurology. 2002 Jul 23; 59(2):256-65. View Abstract
  281. Sawtooth wave density analysis during REM sleep in normal volunteers. Sleep Med. 2002 May; 3(3):255-8. View Abstract
  282. Children, sleep, and behavior: a complex association. Minerva Pediatr. 2002 Apr; 54(2):79-91. View Abstract
  283. Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective study. Neurology. 2002 Mar 12; 58(5):717-22. View Abstract
  284. Childhood sleep disorders: diagnostic and therapeutic approaches. Curr Neurol Neurosci Rep. 2002 Mar; 2(2):150-7. View Abstract
  285. Can stimulant rebound mimic pediatric bipolar disorder? J Child Adolesc Psychopharmacol. 2002; 12(1):63-7. View Abstract
  286. The Landau-Kleffner Syndrome. Epilepsy Curr. 2001 11; 1(2):39-45. View Abstract
  287. Medical mimics. Medical and neurological conditions simulating ADHD. Ann N Y Acad Sci. 2001 Jun; 931:97-112. View Abstract
  288. Neurologic course of congenital disorders of glycosylation. J Child Neurol. 2001 Jun; 16(6):409-13. View Abstract
  289. Stroke after zoster ophthalmicus in a 12-year-old girl with protein C deficiency. Neurology. 1999 Sep 22; 53(5):1128-9. View Abstract
  290. Pregnancy outcome in patients treated for Hodgkin's disease. J Clin Oncol. 1993 Mar; 11(3):507-12. View Abstract
  291. Small bowel obstruction as a late complication of the treatment of Hodgkin's disease. Aust N Z J Surg. 1990 Aug; 60(8):585-8. View Abstract
  292. Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic. Pediatr Neurol. 1990 Mar-Apr; 6(2):126-30. View Abstract
  293. Tamoxifen withdrawal response. Report of a case. Arch Intern Med. 1989 Feb; 149(2):449-50. View Abstract
  294. Epithelioid granulomas revisited: long-term follow-up in Hodgkin's disease. Am J Clin Oncol. 1988 Aug; 11(4):456-60. View Abstract
  295. Dementia, rigidity and seizures in an adolescent boy. Pediatr Neurosci. 1988; 14(6):307-14. View Abstract
  296. Childhood stroke following intraoral trauma. J Pediatr. 1987 Apr; 110(4):574-5. View Abstract
  297. Acute renal failure, hemolytic anemia, and thrombocytopenia in poststreptococcal glomerulonephritis. South Med J. 1987 Mar; 80(3):370-3. View Abstract
  298. Ethiodized oil emulsion 13 in computed tomography of hepatoma. J Clin Oncol. 1984 Feb; 2(2):118-23. View Abstract

Contact Phillip Pearl