Current Environment: Production

Phillip Pearl | Medical Services

Specialties

Programs & Services

Languages

  • English

Phillip Pearl | 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

Phillip Pearl | Certifications

  • American Board of Pediatrics (General)
  • American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
  • American Board of Psychiatry and Neurology (Clinical Neurophysiology)
  • American Board of Psychiatry and Neurology (Neurodevelopmental Disabilities)

Phillip Pearl | Professional History

Phillip L. Pearl, MD is Director of Epilepsy and Clinical Neurophysiology and William G. Lennox Chair in the Department of Neurology at Boston Children’s Hospital and Professor of Neurology at Harvard Medical School. Dr. Pearl, originally from Baltimore, attended Johns Hopkins University, 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. Dr. Pearl has published over 210 manuscripts, over 100 chapters and reviews, and authored or edited five books in the field of child neurology, two of which have been translated into Chinese and Japanese. He is also on the faculty of the Music and Health Institute of the Berklee College of Music in Boston. His major research interest is inherited metabolic epilepsies. Dr. Pearl is Past President of the Professors of Child Neurology and former President of the Child Neurology Society.

Phillip Pearl | 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’

Phillip Pearl | Publications

  1. Inherited metabolic epilepsies-established diseases, new approaches. Epilepsia Open. 2024 Dec 27. View Inherited metabolic epilepsies-established diseases, new approaches. Abstract

  2. Creativity and its link to epilepsy. Epilepsia Open. 2024 Nov 26. View Creativity and its link to epilepsy. Abstract

  3. Editorial: Seizures in brain tumors. Front Surg. 2024; 11:1504572. View Editorial: Seizures in brain tumors. 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 Overlap of spike and ripple propagation onset predicts surgical outcome in epilepsy. 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 Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society. Abstract

  6. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. 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 In Search of a Common Language: The Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. Abstract

  8. Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. Front Genet. 2024; 15:1405468. View Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. 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 Predictive factors for seizure freedom after epilepsy surgery for pediatric low-grade tumors and focal cortical dysplasia. 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 The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. 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 Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. 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 Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. 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 Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Abstract

  14. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024 May; 142(1):108363. View Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Abstract

  15. The promise of personalized medicine in pediatric epilepsy - The time has come. Eur J Paediatr Neurol. 2024 Jan; 48:A3. View The promise of personalized medicine in pediatric epilepsy - The time has come. 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 Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency. 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 Interictal EEG source connectivity to localize the epileptogenic zone in patients with drug-resistant epilepsy: A machine learning approach. Abstract

  18. Treatable inherited metabolic epilepsies. Epilepsy Behav. 2024 Feb; 151:109621. View Treatable inherited metabolic epilepsies. 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 Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. Abstract

  20. ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386. View ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. 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 Deep Learning-Based Visual Complexity Analysis of Electroencephalography Time-Frequency Images: Can It Localize the Epileptogenic Zone in the Brain? 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 Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS). Abstract

  23. Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Hum Genet. 2023 Dec; 142(12):1755-1776. View Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. 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 Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of ?-aminobutyric acid metabolism. 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 Sleep Spindle Generation Before and After Epilepsy Surgery: A Source Imaging Study in Children with Drug-Resistant Epilepsy. 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 Characterizing, classifying, and collecting spells in paroxysmal disorders - A need as targeted therapies approach for childhood neurological disorders. 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 Eating disorders occur at high rates in adolescents with epilepsy and are associated with psychiatric comorbidities and suicidality. Abstract

  28. Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy. Brain. 2023 09 01; 146(9):3898-3912. View Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy. Abstract

  29. Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Mol Genet Metab. 2023 11; 140(3):107690. View Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Abstract

  30. Comment: Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2023 10; 47:101073. View Comment: Amenable Treatable Severe Pediatric Epilepsies. Abstract

  31. Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. Res Sq. 2023 Jul 10. View Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. 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 Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Abstract

  33. Electromagnetic source imaging predicts surgical outcome in children with focal cortical dysplasia. Clin Neurophysiol. 2023 09; 153:88-101. View Electromagnetic source imaging predicts surgical outcome in children with focal cortical dysplasia. 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 Functional connectivity discriminates epileptogenic states and predicts surgical outcome in children with drug resistant epilepsy. Abstract

  35. Comparison of fMRI language laterality with and without sedation in pediatric epilepsy. Neuroimage Clin. 2023; 38:103448. View Comparison of fMRI language laterality with and without sedation in pediatric epilepsy. 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 Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. 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 Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. 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 Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency. Abstract

  39. Non-invasive mapping of epileptogenic networks predicts surgical outcome. Brain. 2023 05 02; 146(5):1916-1931. View Non-invasive mapping of epileptogenic networks predicts surgical outcome. 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 The presence and severity of epilepsy coincide with reduced ?-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency. Abstract

  41. Treatment of neurometabolic epilepsies: Overview and recent advances. Epilepsy Behav. 2023 05; 142:109181. View Treatment of neurometabolic epilepsies: Overview and recent advances. Abstract

  42. New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Neurology. 2023 07 18; 101(3):124-133. View New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Abstract

  43. Fetal anomaly diagnosis and termination of pregnancy. Dev Med Child Neurol. 2023 07; 65(7):900-907. View Fetal anomaly diagnosis and termination of pregnancy. 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 Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. 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 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. 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 Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease. 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 Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome. Abstract

  48. Intelligent biomarker panel development for neurometabolic disease. Dev Med Child Neurol. 2022 12; 64(12):1441-1442. View Intelligent biomarker panel development for neurometabolic disease. 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 Reply to "Added value of high-resolution electrical source imaging of ictal activity in children with structural focal epilepsy". Abstract

  50. Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. Eur J Paediatr Neurol. 2022 07; 39:A3. View Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. 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 Virtual implantation using conventional scalp EEG delineates seizure onset and predicts surgical outcome in children with epilepsy. Abstract

  52. Autonomic risks in Alternating Hemiplegia of Childhood. Eur J Paediatr Neurol. 2022 05; 38:A3. View Autonomic risks in Alternating Hemiplegia of Childhood. 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 Single-stage resection of bottom-of-a-sulcus dysplasia involving eloquent cortex using navigated transcranial magnetic stimulation and intraoperative modalities. Abstract

  54. Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. Diagnostics (Basel). 2022 Apr 18; 12(4). View Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. 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 Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. 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 Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol. Abstract

  57. Proceedings of the International SSADH Deficiency 2020 Conference. J Child Neurol. 2021 11; 36(13-14):1151-1152. View Proceedings of the International SSADH Deficiency 2020 Conference. 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 Novel Seizure Biomarkers in Continuous Electrocardiograms from Pediatric Epilepsy Patients. 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 Mapping Propagation of Interictal Spikes, Ripples, and Fast Ripples in Intracranial EEG of Children with Refractory Epilepsy. 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 Mapping Functional Connectivity of Epileptogenic Networks through Virtual Implantation. 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 Electric Source Imaging on Intracranial EEG Localizes Spatiotemporal Propagation of Interictal Spikes in Children with Epilepsy. Abstract

  62. A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2021 Nov 01; 38(6):509-515. View A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. 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 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. 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 Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. 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 Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. Abstract

  66. Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. Ann Neurol. 2021 10; 90(4):537-538. View Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. 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 Changes in the Functional Brain Network of Children Undergoing Repeated Epilepsy Surgery: An EEG Source Connectivity Study. Abstract

  68. Remembrance of Things Past: A Critical Step in Changing our Future. Ann Neurol. 2021 10; 90(4):521-523. View Remembrance of Things Past: A Critical Step in Changing our Future. Abstract

  69. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec; 137(4):436-444. View Childhood-onset hereditary spastic paraplegia and its treatable mimics. 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 Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification. 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 Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. 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 A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. Abstract

  73. Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. Clin Neurophysiol. 2021 07; 132(7):1622-1635. View Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. 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 Presurgical accuracy of dipole clustering in MRI-negative pediatric patients with epilepsy: Validation against intracranial EEG and resection. Abstract

  75. Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. Ann Neurol. 2021 05; 89(5):911-925. View Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. 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 Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. Abstract

  77. Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. Epilepsia. 2021 05; 62(5):1064-1073. View Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. 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 Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity. Abstract

  79. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1162-1168. View Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. 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 Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. Abstract

  81. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021 11; 36(13-14):1153-1161. View Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. 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 Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. Abstract

  83. Child neurology, COVID-19, and crisis in society. Dev Med Child Neurol. 2020 10; 62(10):1113. View Child neurology, COVID-19, and crisis in society. 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 Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Abstract

  85. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 11 10; 95(19):e2675-e2682. View Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. 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 A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. 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 How the jazz medium can inform interprofessional health care teams in improving patient care. 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 Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. Abstract

  89. Reply to Russo and Trabacca. Pediatr Neurol. 2020 11; 112:1. View Reply to Russo and Trabacca. 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 Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature. Abstract

  91. EEG features of brain injury during extracorporeal membrane oxygenation in children. Neurology. 2020 09 08; 95(10):e1372-e1380. View EEG features of brain injury during extracorporeal membrane oxygenation in children. 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 The President, Past President, Executive Director, and the Board of the Child Neurology Society Denounce Racism and Inequality. Abstract

  93. Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol. 2020 10; 35(12):828-834. View Management of Infantile Spasms During the COVID-19 Pandemic. Abstract

  94. Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217. View Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Abstract

  95. Epileptic Activity Intrinsically Generated in the Human Cerebellum. Ann Neurol. 2020 08; 88(2):418-422. View Epileptic Activity Intrinsically Generated in the Human Cerebellum. Abstract

  96. Practical Bioethics during the Exceptional Circumstances of a Pandemic. Pediatr Neurol. 2020 07; 108:3-4. View Practical Bioethics during the Exceptional Circumstances of a Pandemic. Abstract

  97. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View Mortality in infantile spasms: A hospital-based study. Abstract

  98. Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. Ann Clin Transl Neurol. 2020 03; 7(3):329-342. View Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. 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 Ictal and interictal source imaging on intracranial EEG predicts epilepsy surgery outcome in children with focal cortical dysplasia. 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 Noninvasive Localization of High-Frequency Oscillations in Children with Epilepsy: Validation against Intracranial Gold-Standard. 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 Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. 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 Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy. Abstract

  103. GABA Transaminase Deficiency With Survival Into Adulthood. J Child Neurol. 2019 03; 34(4):216-220. View GABA Transaminase Deficiency With Survival Into Adulthood. Abstract

  104. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019 01; 6(1):114-120. View Age-related phenotype and biomarker changes in SSADH deficiency. 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 Non-invasive Seizure Localization with Ictal Single-Photon Emission Computed Tomography is Impacted by Preictal/Early Ictal Network Dynamics. 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 A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Abstract

  107. Surgical resection of ripple onset predicts outcome in pediatric epilepsy. Ann Neurol. 2018 09; 84(3):331-346. View Surgical resection of ripple onset predicts outcome in pediatric epilepsy. 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 Magnetoencephalographic Mapping of Epileptic Spike Population Using Distributed Source Analysis: Comparison With Intracranial Electroencephalographic Spikes. 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 A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Abstract

  110. GABA: no longer the faithful neurotransmitter. Dev Med Child Neurol. 2018 08; 60(8):734. View GABA: no longer the faithful neurotransmitter. Abstract

  111. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. Abstract

  112. Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Pediatr Neurol. 2018 06; 83:25-31. View Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Abstract

  113. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. View White matter spongiosis with vigabatrin therapy for infantile spasms. Abstract

  114. Seizure clustering during presurgical electroencephalographic monitoring in children. Epilepsy Behav. 2018 03; 80:291-295. View Seizure clustering during presurgical electroencephalographic monitoring in children. Abstract

  115. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):186-209. View Epilepsy Syndromes in Childhood. Abstract

  116. Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Epilepsia. 2018 01; 59(1):37-66. View Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Abstract

  117. Response to clobazam in continuous spike-wave during sleep. Dev Med Child Neurol. 2018 03; 60(3):283-289. View Response to clobazam in continuous spike-wave during sleep. Abstract

  118. Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. J Clin Neurophysiol. 2017 Sep; 34(5):421-426. View Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. Abstract

  119. Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. J Child Neurol. 2017 Sep; 32(10):880-885. View Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. Abstract

  120. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. 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 Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy. Abstract

  122. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View Phenotype of GABA-transaminase deficiency. Abstract

  123. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. View Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. 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 Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. 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 Aberrant mTOR signaling and disrupted autophagy: The missing link in potential vigabatrin-associated ocular toxicity? 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 Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. 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 Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Abstract

  128. Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Epilepsia. 2017 03; 58(3):420-428. View Time to electroencephalography is independently associated with outcome in critically ill neonates and children. 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 Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. 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 Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. Abstract

  131. Texting Rhythm With Temporal Predominance. J Clin Neurophysiol. 2016 Dec; 33(6):570. View Texting Rhythm With Temporal Predominance. 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 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. Abstract

  133. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017; 34:111-115. View Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. 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 Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. Abstract

  135. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Oct; 2(5):e96. View KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Abstract

  136. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. J Clin Neurophysiol. 2016 Aug; 33(4):320-3. View American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Abstract

  137. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Abstract

  138. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2016; 30:81-87. View Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. Abstract

  139. Automated seizure detection systems and their effectiveness for each type of seizure. Seizure. 2016 Aug; 40:88-101. View Automated seizure detection systems and their effectiveness for each type of seizure. 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 Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. 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 Real-time multi-channel monitoring of burst-suppression using neural network technology during pediatric status epilepticus treatment. Abstract

  142. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 07; 57(7):1027-35. View SCN8A encephalopathy: Research progress and prospects. Abstract

  143. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 05; 23(2):158-66. View Amenable Treatable Severe Pediatric Epilepsies. Abstract

  144. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. Abstract

  145. SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. Abstract

  146. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 06; 31(7):938-41. View Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. 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 From gene discovery to precision intervention in epilepsy: almost the end of the beginning. Abstract

  148. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Neurodiagn J. 2016; 56(4):266-275. View American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Abstract

  149. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 05; 58:113-5. View Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Abstract

  150. Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015 Nov; 52(Pt A):200-4. View Utility of initial EEG in first complex febrile seizure. Abstract

  151. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 08; 85(10):861-5. View Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Abstract

  152. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51. View Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Abstract

  153. Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 01; 85(9):748-9. View Gene sleuthing in pyridoxine-dependent epilepsy. Abstract

  154. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View The genetics of the epilepsies. Abstract

  155. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View Clinical Use of CSF Neurotransmitters. Abstract

  156. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205. View Neuroimaging features of Cornelia de Lange syndrome. 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 Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Abstract

  158. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. View Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. Abstract

  159. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View Genetic forms of epilepsies and other paroxysmal disorders. 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 Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. Abstract

  161. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:23-7. View Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. 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 Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Abstract

  163. International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62. View International telemedicine consultations for neurodevelopmental disabilities. Abstract

  164. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22; 82(16):1392-4. View Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Abstract

  165. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4. View Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Abstract

  166. Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:97. View Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. Abstract

  167. 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 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Abstract

  168. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol. 2014 May; 18(3):249-56. View Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Abstract

  169. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. View Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Abstract

  170. 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 Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Abstract

  171. 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 Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Abstract

  172. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013; 2013:124934. View Metabolic causes of epileptic encephalopathy. Abstract

  173. 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 Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Abstract

  174. Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia. 2013 Jun; 54(6):1074-82. View Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Abstract

  175. Monoamine neurotransmitter deficiencies. Handb Clin Neurol. 2013; 113:1819-25. View Monoamine neurotransmitter deficiencies. Abstract

  176. Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep. 2013; 9:139-142. View Partial Pyridoxine Responsiveness in PNPO Deficiency. Abstract

  177. 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 Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Abstract

  178. Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2013; 8:133-7. View Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. Abstract

  179. Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 2012 Aug 21; 79(8):819. View Comment: Right-sizing adult neurology training for the child neurologist. Abstract

  180. Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy Behav. 2012 Aug; 24(4):457-61. View Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Abstract

  181. 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 Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Abstract

  182. GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology. 2012 Jul 03; 79(1):47-54. View GABAB-ergic motor cortex dysfunction in SSADH deficiency. Abstract

  183. The effect of seizure focus on regional language processing areas. Epilepsia. 2012 Jun; 53(6):1044-50. View The effect of seizure focus on regional language processing areas. Abstract

  184. Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Semin Pediatr Neurol. 2011 Sep; 18(3):203-8. View Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Abstract

  185. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev. 2011 Oct; 33(9):796-805. View Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Abstract

  186. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011 May; 68(5):665-71. View Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Abstract

  187. 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 Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. Abstract

  188. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal. 2011 Aug 01; 15(3):691-718. View Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Abstract

  189. 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 Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Abstract

  190. Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol. 2010 Jul; 67(7):890-1. View Uveitis and white matter abnormalities in pediatric sarcoidosis. Abstract

  191. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. J Child Neurol. 2010 Dec; 25(12):1457-61. View Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. Abstract

  192. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010 Apr; 42(4):255-8. View Neuropathology in succinic semialdehyde dehydrogenase deficiency. Abstract

  193. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep. 2009 Dec; 32(12):1645-8. View Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Abstract

  194. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 2009 Aug 11; 73(6):423-9. View Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Abstract

  195. Neurological problems of jazz legends. J Child Neurol. 2009 Aug; 24(8):1037-42. View Neurological problems of jazz legends. Abstract

  196. Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Neurology. 2009 May 26; 72(21):1830-6. View Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Abstract

  197. Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology. 2009 Mar 24; 72(12):e56. View Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Abstract

  198. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis. 2009 Apr; 32(2):204-13. View New treatment paradigms in neonatal metabolic epilepsies. Abstract

  199. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009 Jun; 32(3):343-52. View Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. Abstract

  200. Limitations to plasticity of language network reorganization in localization related epilepsy. Brain. 2009 Feb; 132(Pt 2):347-56. View Limitations to plasticity of language network reorganization in localization related epilepsy. Abstract

  201. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009 Feb; 50(2):184-94. View Cerebral MRI abnormalities associated with vigabatrin therapy. Abstract

  202. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008 Jul; 13(7):598-605. View Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. Abstract

  203. A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann. 2008 Jul; 37(7):459-60, 463. View A 2-year-old male with developmental delay, irritability, and failure to thrive. Abstract

  204. Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy Behav. 2008 Jul; 13(1):109-14. View Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Abstract

  205. Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatr Neurol. 2008 Apr; 38(4):248-51. View Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Abstract

  206. Infantile seizures: infants are not just little children. Curr Neurol Neurosci Rep. 2008 Mar; 8(2):139-44. View Infantile seizures: infants are not just little children. Abstract

  207. Ketogenic diet: stoking energy stores and still posing questions. Exp Neurol. 2008 May; 211(1):11-3. View Ketogenic diet: stoking energy stores and still posing questions. Abstract

  208. Atypical language in lesional and nonlesional complex partial epilepsy. Neurology. 2007 Oct 30; 69(18):1761-71. View Atypical language in lesional and nonlesional complex partial epilepsy. Abstract

  209. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May; 22(5):606-16. View The pediatric neurotransmitter disorders. Abstract

  210. 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 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. Abstract

  211. Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology. 2007 Feb 27; 68(9):655-9. View Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Abstract

  212. Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; 30(1):2-4. View Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. Abstract

  213. 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 The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Abstract

  214. Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol. 2006 Nov; 8(6):441-50. View Diagnosis and treatment of neurotransmitter disorders. Abstract

  215. Inherited disorders of GABA metabolism. Future Neurol. 2006 Sep; 1(5):631-636. View Inherited disorders of GABA metabolism. Abstract

  216. Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Epilepsy Behav. 2006 Sep; 9(2):327-34. View Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Abstract

  217. 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 Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN. Abstract

  218. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2006 Feb; 29(1):143-56. View Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. Abstract

  219. 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 Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Abstract

  220. Seizure focus affects regional language networks assessed by fMRI. Neurology. 2005 Nov 22; 65(10):1604-11. View Seizure focus affects regional language networks assessed by fMRI. Abstract

  221. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005 Dec; 38(12):1051-8. View Inherited disorders of neurotransmitters in children and adults. Abstract

  222. Use of complementary and alternative therapies in epilepsy: cause for concern. Arch Neurol. 2005 Sep; 62(9):1472-5. View Use of complementary and alternative therapies in epilepsy: cause for concern. Abstract

  223. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life. 2005 Sep; 57(9):639-44. View Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. Abstract

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  225. Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Expert Rev Neurother. 2005 May; 5(3):325-31. View Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Abstract

  226. Seizures and metabolic disease. Curr Neurol Neurosci Rep. 2005 Mar; 5(2):127-33. View Seizures and metabolic disease. Abstract

  227. fMRI language task panel improves determination of language dominance. Neurology. 2004 Oct 26; 63(8):1403-8. View fMRI language task panel improves determination of language dominance. Abstract

  228. Imaging data in autism: from structure to malfunction. Semin Pediatr Neurol. 2004 Sep; 11(3):205-13. View Imaging data in autism: from structure to malfunction. Abstract

  229. 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Clin Dysmorphol. 2004 Jul; 13(3):191-194. View 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Abstract

  230. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clin Neurophysiol. 2004 Jun; 115(6):1417-22. View Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Abstract

  231. Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol. 2004 Apr; 17(2):107-13. View Clinical aspects of the disorders of GABA metabolism in children. Abstract

  232. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004 Apr; 55(4):599; author reply 599. View Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Abstract

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  234. A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Pediatrics. 2003 Nov; 112(5):e404. View A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Abstract

  235. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry. 2003 Oct 01; 54(7):763-8. View Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Abstract

  236. Landau-Kleffner syndrome. Arch Neurol. 2003 Jul; 60(7):1019-21. View Landau-Kleffner syndrome. Abstract

  237. Sleep problems, stimulants, and ADHD: true, true, unrelated? Sleep Med. 2003 Jul; 4(4):271-2. View Sleep problems, stimulants, and ADHD: true, true, unrelated? Abstract

  238. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13; 60(9):1413-7. View Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Abstract

  239. The neurobiology of autism: new pieces of the puzzle. Curr Neurol Neurosci Rep. 2003 Mar; 3(2):149-56. View The neurobiology of autism: new pieces of the puzzle. Abstract

  240. Too much energy for rest. Sleep problems in children with ADHD. Adv Nurse Pract. 2003 Feb; 11(2):57-8, 91. View Too much energy for rest. Sleep problems in children with ADHD. Abstract

  241. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol. 2003; 54 Suppl 6:S25-31. View Magnetic resonance spectroscopy of neurotransmitters in human brain. Abstract

  242. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol. 2003; 54 Suppl 6:S73-80. View Succinic semialdehyde dehydrogenase deficiency in children and adults. Abstract

  243. Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol. 2003; 54 Suppl 6:S81-90. View Murine succinate semialdehyde dehydrogenase deficiency. Abstract

  244. Language dominance in partial epilepsy patients identified with an fMRI reading task. Neurology. 2002 Jul 23; 59(2):256-65. View Language dominance in partial epilepsy patients identified with an fMRI reading task. Abstract

  245. Sawtooth wave density analysis during REM sleep in normal volunteers. Sleep Med. 2002 May; 3(3):255-8. View Sawtooth wave density analysis during REM sleep in normal volunteers. Abstract

  246. Children, sleep, and behavior: a complex association. Minerva Pediatr. 2002 Apr; 54(2):79-91. View Children, sleep, and behavior: a complex association. Abstract

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When I was 11 years old, I devoured a book called "Stories of Great Physicians." I was an avid reader as a boy and was captivated by tales of Hippocrates, Pasteur, Salk and others. I remember thinking that being a doctor had to be the best thing to be; early experiences stick. My own pediatrician was a role model and I always loved working with kids, having been a camp counselor for seven summers.

Born and raised in Baltimore, I attended Johns Hopkins University and enrolled in a medical ethics course. I was assigned to work with the head of pediatric child neurology, the late John M. Freeman, and was inspired by the intellectual challenge coupled with the emotional valence of the work. This led to my first published paper, on quality of life for patients growing up with spina bifida, and a lasting interest in developmental neurobiology and pediatric neurology.

The son of a professional musician, I also attended Peabody Conservatory of Music, both as a preparatory student and then as an undergraduate in a combined Hopkins-Peabody curriculum. I am a jazz musician and play the piano, vibes, and drums, and my first CD, "Live at Jazzmatazz," debuted at the Blues Alley Jazz Club in Washington, D.C. and supported medical care for indigent children at the Children's Hospital there. I have enjoyed combining my interests in music and medicine, and have had the opportunity to lecture on the neurological problems of famous musicians in venues throughout the world.

My career in child neurology became focused on epilepsy based on experiences I had as a resident at Baylor College of Medicine in Houston and then fellow at Boston Children’s Hospital and Harvard Medical School. Challenging patients and a longstanding interest in biochemistry led me to a subspecialty interest in metabolic epilepsy, which has involved combining aspects of inborn errors of metabolism with childhood seizure disorders. It is not so different than combining passions for children and neurology into pediatric neurology, or music and medicine into studying the neurological problems of musical legends.

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