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Related Research Units

Intellectual and Developmental Disabilities Research Center Research
Neurology Research

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. Inherited metabolic epilepsies-established diseases, new approaches. Epilepsia Open. 2024 Dec 27. View Abstract
  2. Creativity and its link to epilepsy. Epilepsia Open. 2024 Nov 26. View Abstract
  3. Editorial: Seizures in brain tumors. Front Surg. 2024; 11:1504572. View Abstract
  4. Overlap of spike and ripple propagation onset predicts surgical outcome in epilepsy. Ann Clin Transl Neurol. 2024 Oct; 11(10):2530-2547. View Abstract
  5. Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society. Neurology. 2024 Sep 10; 103(5):e209746. View Abstract
  6. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract
  7. 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
  8. Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. Front Genet. 2024; 15:1405468. View Abstract
  9. 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
  10. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024 Jun; 11(6):1643-1647. View Abstract
  11. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. J Neurodev Disord. 2024 Apr 24; 16(1):21. View Abstract
  12. 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 Jun; 77:103424. View Abstract
  13. 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
  14. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024 May; 142(1):108363. View Abstract
  15. The promise of personalized medicine in pediatric epilepsy - The time has come. Eur J Paediatr Neurol. 2024 Jan; 48:A3. View Abstract
  16. Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency. Clin Neurophysiol. 2024 May; 161:52-58. View Abstract
  17. 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
  18. Treatable inherited metabolic epilepsies. Epilepsy Behav. 2024 Feb; 151:109621. View Abstract
  19. Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. J Sleep Res. 2024 Aug; 33(4):e14105. View Abstract
  20. ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386. View Abstract
  21. 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
  22. Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS). Epilepsia. 2024 Jan; 65(1):46-56. View Abstract
  23. Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Hum Genet. 2023 Dec; 142(12):1755-1776. View Abstract
  24. 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
  25. 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
  26. 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
  27. 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
  28. Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy. Brain. 2023 09 01; 146(9):3898-3912. View Abstract
  29. Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Mol Genet Metab. 2023 11; 140(3):107690. View Abstract
  30. Comment: Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2023 10; 47:101073. View Abstract
  31. Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. Res Sq. 2023 Jul 10. View Abstract
  32. 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
  33. Electromagnetic source imaging predicts surgical outcome in children with focal cortical dysplasia. Clin Neurophysiol. 2023 09; 153:88-101. View Abstract
  34. 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
  35. Comparison of fMRI language laterality with and without sedation in pediatric epilepsy. Neuroimage Clin. 2023; 38:103448. View Abstract
  36. 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
  37. 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
  38. 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
  39. Non-invasive mapping of epileptogenic networks predicts surgical outcome. Brain. 2023 05 02; 146(5):1916-1931. View Abstract
  40. 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
  41. Treatment of neurometabolic epilepsies: Overview and recent advances. Epilepsy Behav. 2023 05; 142:109181. View Abstract
  42. New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Neurology. 2023 07 18; 101(3):124-133. View Abstract
  43. Fetal anomaly diagnosis and termination of pregnancy. Dev Med Child Neurol. 2023 07; 65(7):900-907. View Abstract
  44. 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
  45. 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
  46. Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease. Neurology. 2022 Dec 05; 99(23):1025-1026. View Abstract
  47. 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
  48. Intelligent biomarker panel development for neurometabolic disease. Dev Med Child Neurol. 2022 12; 64(12):1441-1442. View Abstract
  49. 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
  50. Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. Eur J Paediatr Neurol. 2022 07; 39:A3. View Abstract
  51. 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
  52. Autonomic risks in Alternating Hemiplegia of Childhood. Eur J Paediatr Neurol. 2022 05; 38:A3. View Abstract
  53. 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
  54. Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. Diagnostics (Basel). 2022 Apr 18; 12(4). View Abstract
  55. 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
  56. 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
  57. Proceedings of the International SSADH Deficiency 2020 Conference. J Child Neurol. 2021 11; 36(13-14):1151-1152. View Abstract
  58. 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
  59. 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
  60. Mapping Functional Connectivity of Epileptogenic Networks through Virtual Implantation. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:408-411. View Abstract
  61. 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
  62. A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2021 Nov 01; 38(6):509-515. View Abstract
  63. 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
  64. 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
  65. Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021 09 07; 13(9):e14712. View Abstract
  66. Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. Ann Neurol. 2021 10; 90(4):537-538. View Abstract
  67. 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
  68. Remembrance of Things Past: A Critical Step in Changing our Future. Ann Neurol. 2021 10; 90(4):521-523. View Abstract
  69. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec; 137(4):436-444. View Abstract
  70. 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
  71. 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
  72. 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
  73. Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. Clin Neurophysiol. 2021 07; 132(7):1622-1635. View Abstract
  74. 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
  75. Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. Ann Neurol. 2021 05; 89(5):911-925. View Abstract
  76. 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
  77. Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. Epilepsia. 2021 05; 62(5):1064-1073. View Abstract
  78. 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
  79. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1162-1168. View Abstract
  80. 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
  81. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021 11; 36(13-14):1153-1161. View Abstract
  82. 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
  83. Child neurology, COVID-19, and crisis in society. Dev Med Child Neurol. 2020 10; 62(10):1113. View Abstract
  84. 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
  85. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 11 10; 95(19):e2675-e2682. View Abstract
  86. 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
  87. How the jazz medium can inform interprofessional health care teams in improving patient care. Med Teach. 2020 12; 42(12):1337-1342. View Abstract
  88. Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. Neurol Clin Pract. 2020 Aug; 10(4):356-361. View Abstract
  89. Reply to Russo and Trabacca. Pediatr Neurol. 2020 11; 112:1. View Abstract
  90. 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
  91. EEG features of brain injury during extracorporeal membrane oxygenation in children. Neurology. 2020 09 08; 95(10):e1372-e1380. View Abstract
  92. 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
  93. Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol. 2020 10; 35(12):828-834. View Abstract
  94. Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217. View Abstract
  95. Epileptic Activity Intrinsically Generated in the Human Cerebellum. Ann Neurol. 2020 08; 88(2):418-422. View Abstract
  96. Practical Bioethics during the Exceptional Circumstances of a Pandemic. Pediatr Neurol. 2020 07; 108:3-4. View Abstract
  97. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View Abstract
  98. Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. Ann Clin Transl Neurol. 2020 03; 7(3):329-342. View Abstract
  99. 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
  100. 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
  101. 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
  102. 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
  103. GABA Transaminase Deficiency With Survival Into Adulthood. J Child Neurol. 2019 03; 34(4):216-220. View Abstract
  104. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019 01; 6(1):114-120. View Abstract
  105. 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
  106. 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
  107. Surgical resection of ripple onset predicts outcome in pediatric epilepsy. Ann Neurol. 2018 09; 84(3):331-346. View Abstract
  108. 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
  109. 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
  110. GABA: no longer the faithful neurotransmitter. Dev Med Child Neurol. 2018 08; 60(8):734. View Abstract
  111. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View Abstract
  112. Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Pediatr Neurol. 2018 06; 83:25-31. View Abstract
  113. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. View Abstract
  114. Seizure clustering during presurgical electroencephalographic monitoring in children. Epilepsy Behav. 2018 03; 80:291-295. View Abstract
  115. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):186-209. View Abstract
  116. Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Epilepsia. 2018 01; 59(1):37-66. View Abstract
  117. Response to clobazam in continuous spike-wave during sleep. Dev Med Child Neurol. 2018 03; 60(3):283-289. View Abstract
  118. Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. J Clin Neurophysiol. 2017 Sep; 34(5):421-426. View Abstract
  119. Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. J Child Neurol. 2017 Sep; 32(10):880-885. View Abstract
  120. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View Abstract
  121. 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
  122. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View Abstract
  123. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. View Abstract
  124. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2017; 36:93-98. View Abstract
  125. 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
  126. 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
  127. Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Front Neurol. 2017; 8:14. View Abstract
  128. Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Epilepsia. 2017 03; 58(3):420-428. View Abstract
  129. 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
  130. Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. J Vis Exp. 2016 12 06; (118). View Abstract
  131. Texting Rhythm With Temporal Predominance. J Clin Neurophysiol. 2016 Dec; 33(6):570. View Abstract
  132. 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
  133. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017; 34:111-115. View Abstract
  134. 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
  135. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Oct; 2(5):e96. View Abstract
  136. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. J Clin Neurophysiol. 2016 Aug; 33(4):320-3. View Abstract
  137. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View Abstract
  138. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2016; 30:81-87. View Abstract
  139. Automated seizure detection systems and their effectiveness for each type of seizure. Seizure. 2016 Aug; 40:88-101. View Abstract
  140. 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
  141. 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
  142. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 07; 57(7):1027-35. View Abstract
  143. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 05; 23(2):158-66. View Abstract
  144. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View Abstract
  145. SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View Abstract
  146. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 06; 31(7):938-41. View Abstract
  147. 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
  148. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Neurodiagn J. 2016; 56(4):266-275. View Abstract
  149. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 05; 58:113-5. View Abstract
  150. Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015 Nov; 52(Pt A):200-4. View Abstract
  151. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 08; 85(10):861-5. View Abstract
  152. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51. View Abstract
  153. Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 01; 85(9):748-9. View Abstract
  154. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View Abstract
  155. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View Abstract
  156. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205. View Abstract
  157. 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
  158. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. View Abstract
  159. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View Abstract
  160. 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
  161. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:23-7. View Abstract
  162. Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatr Neurol. 2014 Sep; 51(3):344-7. View Abstract
  163. International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62. View Abstract
  164. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22; 82(16):1392-4. View Abstract
  165. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4. View Abstract
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  200. Limitations to plasticity of language network reorganization in localization related epilepsy. Brain. 2009 Feb; 132(Pt 2):347-56. View Abstract
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