ABOUT THE RESEARCHER

OVERVIEW

My research focus is inherited metabolic epilepsies with specific focus on disorders of GABA metabolism.  Over the past 15 years, I have studied succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare neurometabolic disorder, in collaboration with K. Michael Gibson, PhD.  I have maintained a longitudinal natural history database of the condition and reported on the clinical, imaging, and neurophysiologic features of the disorder as well as initiated clinical trials for this currently untreatable disorder.

 

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.

PUBLICATIONS

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  1. Presurgical accuracy of dipole clustering in MRI-negative pediatric patients with epilepsy: Validation against intracranial EEG and resection. Clin Neurophysiol. 2021 Mar 26. View abstract
  2. Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. Ann Neurol. 2021 May; 89(5):911-925. View abstract
  3. 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 Mar 23; 8830738211001210. View abstract
  4. Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. Epilepsia. 2021 May; 62(5):1064-1073. View abstract
  5. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity. J Child Neurol. 2021 Feb 24; 883073821993000. View abstract
  6. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 Feb 09; 883073821991295. View abstract
  7. Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. J Child Neurol. 2021 Jun; 36(7):575-582. View abstract
  8. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021 Jan 04; 883073820981262. View abstract
  9. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 Jan; 44(1):178-192. View abstract
  10. Child neurology, COVID-19, and crisis in society. Dev Med Child Neurol. 2020 10; 62(10):1113. View abstract
  11. 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
  12. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 11 10; 95(19):e2675-e2682. View abstract
  13. 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
  14. How the jazz medium can inform interprofessional health care teams in improving patient care. Med Teach. 2020 12; 42(12):1337-1342. View abstract
  15. Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. Neurol Clin Pract. 2020 Aug; 10(4):356-361. View abstract
  16. A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2020 Jul 23. View abstract
  17. Reply to Russo and Trabacca. Pediatr Neurol. 2020 11; 112:1. View abstract
  18. 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
  19. EEG features of brain injury during extracorporeal membrane oxygenation in children. Neurology. 2020 09 08; 95(10):e1372-e1380. View abstract
  20. 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
  21. Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol. 2020 10; 35(12):828-834. View abstract
  22. Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217. View abstract
  23. Epileptic Activity Intrinsically Generated in the Human Cerebellum. Ann Neurol. 2020 08; 88(2):418-422. View abstract
  24. Practical Bioethics during the Exceptional Circumstances of a Pandemic. Pediatr Neurol. 2020 07; 108:3-4. View abstract
  25. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View abstract
  26. Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. Ann Clin Transl Neurol. 2020 03; 7(3):329-342. View abstract
  27. 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
  28. 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
  29. 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
  30. 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
  31. GABA Transaminase Deficiency With Survival Into Adulthood. J Child Neurol. 2019 03; 34(4):216-220. View abstract
  32. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019 01; 6(1):114-120. View abstract
  33. 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
  34. 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
  35. Surgical resection of ripple onset predicts outcome in pediatric epilepsy. Ann Neurol. 2018 09; 84(3):331-346. View abstract
  36. 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
  37. 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
  38. GABA: no longer the faithful neurotransmitter. Dev Med Child Neurol. 2018 08; 60(8):734. View abstract
  39. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View abstract
  40. Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Pediatr Neurol. 2018 06; 83:25-31. View abstract
  41. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. View abstract
  42. Seizure clustering during presurgical electroencephalographic monitoring in children. Epilepsy Behav. 2018 03; 80:291-295. View abstract
  43. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):186-209. View abstract
  44. Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Epilepsia. 2018 01; 59(1):37-66. View abstract
  45. Response to clobazam in continuous spike-wave during sleep. Dev Med Child Neurol. 2018 03; 60(3):283-289. View abstract
  46. Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. J Clin Neurophysiol. 2017 Sep; 34(5):421-426. View abstract
  47. Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. J Child Neurol. 2017 Sep; 32(10):880-885. View abstract
  48. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View abstract
  49. 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
  50. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View abstract
  51. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. View abstract
  52. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2017; 36:93-98. View abstract
  53. 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
  54. 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
  55. Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Front Neurol. 2017; 8:14. View abstract
  56. Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Epilepsia. 2017 03; 58(3):420-428. View abstract
  57. 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
  58. Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. J Vis Exp. 2016 12 06; (118). View abstract
  59. Texting Rhythm With Temporal Predominance. J Clin Neurophysiol. 2016 Dec; 33(6):570. View abstract
  60. 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
  61. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017; 34:111-115. View abstract
  62. 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
  63. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Oct; 2(5):e96. View abstract
  64. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. J Clin Neurophysiol. 2016 Aug; 33(4):320-3. View abstract
  65. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View abstract
  66. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2016; 30:81-87. View abstract
  67. Automated seizure detection systems and their effectiveness for each type of seizure. Seizure. 2016 Aug; 40:88-101. View abstract
  68. 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
  69. 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
  70. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 07; 57(7):1027-35. View abstract
  71. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 05; 23(2):158-66. View abstract
  72. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View abstract
  73. SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View abstract
  74. 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
  75. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 06; 31(7):938-41. View abstract
  76. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Neurodiagn J. 2016; 56(4):266-275. View abstract
  77. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 05; 58:113-5. View abstract
  78. Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015 Nov; 52(Pt A):200-4. View abstract
  79. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 08; 85(10):861-5. View abstract
  80. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51. View abstract
  81. Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 01; 85(9):748-9. View abstract
  82. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View abstract
  83. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View abstract
  84. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205. View abstract
  85. 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
  86. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. View abstract
  87. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View abstract
  88. 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
  89. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:23-7. View abstract
  90. Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatr Neurol. 2014 Sep; 51(3):344-7. View abstract
  91. International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62. View abstract
  92. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22; 82(16):1392-4. View abstract
  93. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4. View abstract
  94. Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:97. View abstract
  95. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. . 2014 Mar; 164A(3):627-33. View abstract
  96. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol. 2014 May; 18(3):249-56. View abstract
  97. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. View abstract
  98. Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia. 2013 Sep; 54(9):e135-7. View abstract
  99. Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):196. View abstract
  100. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013; 2013:124934. View abstract
  101. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Mol Genet Metab. 2013 Jul; 109(3):255-9. View abstract
  102. Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia. 2013 Jun; 54(6):1074-82. View abstract
  103. Monoamine neurotransmitter deficiencies. Handb Clin Neurol. 2013; 113:1819-25. View abstract
  104. Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep. 2013; 9:139-142. View abstract
  105. Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Arch Neurol. 2012 Oct; 69(10):1290-5. View abstract
  106. Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2013; 8:133-7. View abstract
  107. Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 2012 Aug 21; 79(8):819. View abstract
  108. Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy Behav. 2012 Aug; 24(4):457-61. View abstract
  109. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J Inherit Metab Dis. 2013 May; 36(3):401-10. View abstract
  110. GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology. 2012 Jul 03; 79(1):47-54. View abstract
  111. The effect of seizure focus on regional language processing areas. Epilepsia. 2012 Jun; 53(6):1044-50. View abstract
  112. Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Semin Pediatr Neurol. 2011 Sep; 18(3):203-8. View abstract
  113. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev. 2011 Oct; 33(9):796-805. View abstract
  114. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011 May; 68(5):665-71. View abstract
  115. Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. Biochem Mol Biol Educ. 2011 May-Jun; 39(3):191-5. View abstract
  116. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal. 2011 Aug 01; 15(3):691-718. View abstract
  117. Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Pediatr Neurol. 2011 Jan; 44(1):1-9. View abstract
  118. Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol. 2010 Jul; 67(7):890-1. View abstract
  119. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. J Child Neurol. 2010 Dec; 25(12):1457-61. View abstract
  120. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010 Apr; 42(4):255-8. View abstract
  121. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep. 2009 Dec; 32(12):1645-8. View abstract
  122. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 2009 Aug 11; 73(6):423-9. View abstract
  123. Neurological problems of jazz legends. J Child Neurol. 2009 Aug; 24(8):1037-42. View abstract
  124. Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Neurology. 2009 May 26; 72(21):1830-6. View abstract
  125. Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology. 2009 Mar 24; 72(12):e56. View abstract
  126. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis. 2009 Apr; 32(2):204-13. View abstract
  127. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009 Jun; 32(3):343-52. View abstract
  128. Limitations to plasticity of language network reorganization in localization related epilepsy. Brain. 2009 Feb; 132(Pt 2):347-56. View abstract
  129. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009 Feb; 50(2):184-94. View abstract
  130. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008 Jul; 13(7):598-605. View abstract
  131. A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann. 2008 Jul; 37(7):459-60, 463. View abstract
  132. Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy Behav. 2008 Jul; 13(1):109-14. View abstract
  133. Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatr Neurol. 2008 Apr; 38(4):248-51. View abstract
  134. Infantile seizures: infants are not just little children. Curr Neurol Neurosci Rep. 2008 Mar; 8(2):139-44. View abstract
  135. Ketogenic diet: stoking energy stores and still posing questions. Exp Neurol. 2008 May; 211(1):11-3. View abstract
  136. Atypical language in lesional and nonlesional complex partial epilepsy. Neurology. 2007 Oct 30; 69(18):1761-71. View abstract
  137. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May; 22(5):606-16. View abstract
  138. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis. 2007 Jun; 30(3):279-94. View abstract
  139. Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology. 2007 Feb 27; 68(9):655-9. View abstract
  140. Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; 30(1):2-4. View abstract
  141. The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Epilepsy Behav. 2007 Feb; 10(1):170-8. View abstract
  142. Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol. 2006 Nov; 8(6):441-50. View abstract
  143. Inherited disorders of GABA metabolism. Future Neurol. 2006 Sep; 1(5):631-636. View abstract
  144. Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Epilepsy Behav. 2006 Sep; 9(2):327-34. View abstract
  145. Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN. Neurology. 2006 Apr 25; 66(8):1285; author reply 1285. View abstract
  146. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2006 Feb; 29(1):143-56. View abstract
  147. Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry. 2005 Dec; 10(12):1059-61. View abstract
  148. Seizure focus affects regional language networks assessed by fMRI. Neurology. 2005 Nov 22; 65(10):1604-11. View abstract
  149. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005 Dec; 38(12):1051-8. View abstract
  150. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life. 2005 Sep; 57(9):639-44. View abstract
  151. Use of complementary and alternative therapies in epilepsy: cause for concern. Arch Neurol. 2005 Sep; 62(9):1472-5. View abstract
  152. Pediatric sleep disorders. Prim Care. 2005 Jun; 32(2):549-62. View abstract
  153. Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Expert Rev Neurother. 2005 May; 5(3):325-31. View abstract
  154. Seizures and metabolic disease. Curr Neurol Neurosci Rep. 2005 Mar; 5(2):127-33. View abstract
  155. fMRI language task panel improves determination of language dominance. Neurology. 2004 Oct 26; 63(8):1403-8. View abstract
  156. Imaging data in autism: from structure to malfunction. Semin Pediatr Neurol. 2004 Sep; 11(3):205-13. View abstract
  157. 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Clin Dysmorphol. 2004 Jul; 13(3):191-4. View abstract
  158. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clin Neurophysiol. 2004 Jun; 115(6):1417-22. View abstract
  159. Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol. 2004 Apr; 17(2):107-13. View abstract
  160. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004 Apr; 55(4):599; author reply 599. View abstract
  161. Pediatric neurotransmitter diseases. Curr Neurol Neurosci Rep. 2004 Mar; 4(2):147-52. View abstract
  162. A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Pediatrics. 2003 Nov; 112(5):e404. View abstract
  163. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry. 2003 Oct 01; 54(7):763-8. View abstract
  164. Sleep problems, stimulants, and ADHD: true, true, unrelated? Sleep Med. 2003 Jul; 4(4):271-2. View abstract
  165. Landau-Kleffner syndrome. Arch Neurol. 2003 Jul; 60(7):1019-21. View abstract
  166. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13; 60(9):1413-7. View abstract
  167. The neurobiology of autism: new pieces of the puzzle. Curr Neurol Neurosci Rep. 2003 Mar; 3(2):149-56. View abstract
  168. Too much energy for rest. Sleep problems in children with ADHD. Adv Nurse Pract. 2003 Feb; 11(2):57-8, 91. View abstract
  169. Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol. 2003; 54 Suppl 6:S81-90. View abstract
  170. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol. 2003; 54 Suppl 6:S25-31. View abstract
  171. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol. 2003; 54 Suppl 6:S73-80. View abstract
  172. Language dominance in partial epilepsy patients identified with an fMRI reading task. Neurology. 2002 Jul 23; 59(2):256-65. View abstract
  173. Sawtooth wave density analysis during REM sleep in normal volunteers. Sleep Med. 2002 May; 3(3):255-8. View abstract
  174. Children, sleep, and behavior: a complex association. Minerva Pediatr. 2002 Apr; 54(2):79-91. View abstract
  175. Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective study. Neurology. 2002 Mar 12; 58(5):717-22. View abstract
  176. Childhood sleep disorders: diagnostic and therapeutic approaches. Curr Neurol Neurosci Rep. 2002 Mar; 2(2):150-7. View abstract
  177. Can stimulant rebound mimic pediatric bipolar disorder? J Child Adolesc Psychopharmacol. 2002; 12(1):63-7. View abstract
  178. The Landau-Kleffner Syndrome. Epilepsy Curr. 2001 Nov; 1(2):39-45. View abstract
  179. Medical mimics. Medical and neurological conditions simulating ADHD. Ann N Y Acad Sci. 2001 Jun; 931:97-112. View abstract
  180. Neurologic course of congenital disorders of glycosylation. J Child Neurol. 2001 Jun; 16(6):409-13. View abstract
  181. Stroke after zoster ophthalmicus in a 12-year-old girl with protein C deficiency. Neurology. 1999 Sep 22; 53(5):1128-9. View abstract
  182. Pregnancy outcome in patients treated for Hodgkin's disease. J Clin Oncol. 1993 Mar; 11(3):507-12. View abstract
  183. Small bowel obstruction as a late complication of the treatment of Hodgkin's disease. Aust N Z J Surg. 1990 Aug; 60(8):585-8. View abstract
  184. Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic. Pediatr Neurol. 1990 Mar-Apr; 6(2):126-30. View abstract
  185. Tamoxifen withdrawal response. Report of a case. Arch Intern Med. 1989 Feb; 149(2):449-50. View abstract
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  187. Dementia, rigidity and seizures in an adolescent boy. Pediatr Neurosci. 1988; 14(6):307-14. View abstract
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