Philip Pearl MD

Phillip L. Pearl, MD

Director of Epilepsy and Clinical Neurophysiology

William G. Lennox Chair and Professor of Neurology, Harvard Medical School

  • Contact: 617-355-2413

  • Fax: 617-730-0463

Medical Services

Specialties

  • Epilepsy Seizures

Departments

  • Neurology

Languages

  • English

Programs

  • Epilepsy Center
  • END Technology Program
To schedule an appointment: Call 617-355-2413 or Request an Appointment
Philip Pearl MD

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.

Experience and Education

Education

Medical Degree

University of Maryland School of Medicine, 1984

Baltimore, Maryland

Residency

Pediatrics-Baylor College of Medicine, 1984-1986

Houston, Texas

Residency

Neurology and Child Neurology-Baylor College of Medicine, 1986-1989

Houston, Texas

Fellowship

Clinical Neurophysiology-Children's Hospital, Beth Israel Hospital, Harvard Medical School, 1989-1990

Boston, Massachusetts

Certifications

  • American Board of Neurology and Psychiatry: Neurology with Special Qualification in Child Neurology

  • Child Neurology

  • American Board of Clinical Neurophysiology (ABCN)

  • Neurology, Subspecialty Certification in Neurodevelopmental Disabilities

  • American Board of Pediatrics

Professional History

My clinical expertise is in metabolic causes of childhood epilepsies, a group of rare diseases in great need of understanding and therapies.

My work in metabolic epilepsies began with a combined interest in childhood epilepsy and neurochemistry and a series of patients with undiagnosed disorders in whom we began to establish diagnoses, some of which were treatable.  My initial foray in this group of disorders was in the neurotransmitter diseases.

As I attended meetings of the metabolic societies, giving presentations on these diseases, I noticed there was very little discussion of the actual clinical presentations of the patients or the challenges a clinician faces when seeing a child with unexplained seizures. At the same time, during meetings of the epilepsy societies, discussions about seizures and their treatments virtually ignored these enigmatic diseases known to a small group of metabolism experts but with potentially profound impact on children being followed for epilepsy.  This struck me as a significant void affecting our patients, and I ultimately pursued further studies and work in this combined area of metabolic epilepsy.

I was formerly the chief of the neurology division at Children's National Medical Center in Washington, D.C. and professor of pediatrics, neurology and music at George Washington University. I completed medical school at the University of Maryland School of Medicine, residencies in pediatrics and pediatric neurology at Baylor College of Medicine and a fellowship in clinical neurophysiology at Boston Children's Hospital.

In 2014, I became the director of epilepsy and clinical neurophysiology at Boston Children's Hospital and the William G. Lennox Chair and Professor of Neurology at Harvard Medical School. While it was difficult to leave the people and place where my career became established, I had completed my training at Boston Children's Hospital and coming back to lead the division where I trained was an honor and in some ways a homecoming.

Since coming to Boston Children's, I have helped to build up the Epilepsy Monitoring Unit, to reorganize the division into clinical and academic programs and to launch new programs such as ICU-EEG monitoring and international epilepsy. I have also devoted much of my career to neurologic education, including curricular development on a national and international basis, directing a program in telemedicine and serving as president of the Professors of Child Neurology from 2012 to 2014.

Research

My research examines inherited metabolic epilepsies with a specific focus on disorders of GABA metabolism.  Over the past 15 years, I have studied succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare neurometabolic disorder that can lead to a variety of neurological problems including intellectual deficiency, epilepsy, movement disorders and complex psychiatric symptomology.

My work has involved translational studies, applying principles learned from mouse models to clinical diagnostic and therapeutic trials.  In 2009 we published groundbreaking research, showing that GABA (A) and (B) receptors are downregulated in SSADH deficiency, using technology involving flumazenil-PET imaging and later transcranial magnetic stimulation. This reproduced work identified in the animal model using other laboratory techniques, and paved the way for biomarker development and innovative clinical trials that are now in progress.

More broadly, my research encompasses the fields of neurotransmitter disorders and epilepsy. Books that I have authored encapsulate the range of my academic work. Inherited Metabolic Epilepsies, a 2013 publication, has been regarded as a highly innovative approach to this group of disorders. Neuro-Logic, published in 2014, is a primer on localization emanating from my directorship of the medical student preclinical teaching and neurology clerkship in neurology at George Washington School of Medicine and director of the neurology training program at Children’s National Medical Center.

My basic and clinical research has resulted in the following publications that have helped to explain aspects of epilepsy, chiefly shaping our understanding of metabolic epilepsies, including: 


Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, Sotero de Menezes M, Ferri R, Gilles E, Kadom N, Gaillard WD: Cerebral MRI Abnormalities Associated with Vigabatrin Therapy. Epilepsia 2009; 50:184-194.


Pearl PL, Gibson KM, Quezado Z, Dustin I, Taylor J, Trzcinski S, Schreiber J, Forester K, Reeves-Tyer P, Liew C, Shamim S, Herscovitch P, Carson RE, Butman JA, Jakobs C, Theodore WH. Decreased GABA-A Binding on FMZ-PET in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. Neurology 2009; 73:423-429.

Pearl PL, Shamim S, Theodore WH, Gibson KM, Forester K, Combs SE, Lewin D, Dustin I, Reeves-Tyer P, Jakobs C, Sato S. Polysomnographic Abnormalities in SSADH Deficiency. Sleep 2009; 32:1645-1648. PMCID: PMC2786049.

Pearl PL, Hyland K, Chiles J, McGavin C, Yuezhu Y, Taylor D: Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep: 2013;9:139-42. PMCID: PMC3565675.

Yu Y, Shadd WM, Kleifges KA, Myers LA, Pearl PL: Musical Instrument Modifications for Individuals with Neurodevelopmental Disabilities. Music and Medicine 2013 Jul;5(3):145-9. DOI: 10.1177/19438621 13489995.

Pearl PL, McCarter RM, Tsuchida T, Yu Y, Klein P: Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia 2013 Sep;54(9):e135-137. PMCID: PMC3769484

Pearl PL, Schreiber J, Theodore WH, McCarter R, Barrios ES, Yu YJ, Wiggs E, He J, Gibson KM: Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology 2014 Mar 18;82(11):940-944.

Pearl PL, Sable C, Evans S, Knight J, Cunningham P, Lotrecchiano GR, Gropman A, Stuart S, Glass P, ConwayA, Ramadan I, Paiva T, Batshaw ML, Packer RJ: International Telemedicine Consultations for Neurodevelopmental Disabilities. Telemed J E Health 2014 Jun;20(6):559-62.

Pearl PL, McConnell E, Fernandez R, Brooks-Kayal A: Survey of the Professors of Child Neurology: Neurology versus Pediatrics Home for Child Neurology. Pediatr Neurol 2014 Sep;51(3):344-347.

Pearl PL, Parviz M, Vogel K, Schreiber J, Theodore WH, Gibson KM. Inherited Disorders of Gamma-aminobutyric Acid Metabolism and Advances in ALDH5A1 Mutation Identification. Dev Med Child Neurol 2014 Dec 29. doi: 10.1111/dmcn.12668.

Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 8; 85:861-865.

Rodan LH, Gibson KM, Pearl PL. Clinical Use of CSF Neurotransmitters. Pediatr Neurol 2015 Oct;53(4):277-286.

Pearl PL: Inherited Metabolic Epilepsies. New York NY: Demos Publishers; 2013.

Pearl PL and Emsellem HA. Neuro-Logic: A Primer on Localization. New York NY: Demos Medical Publishers; 2014.

Publications

Publications powered by Harvard Catalyst Profiles
  1. Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Oct; 2(5):e96.
  2. Kuratani J, Pearl PL, Sullivan L, Riel-Romero RM, Cheek J, Stecker M, San-Juan D, Selioutski O, Sinha SR, Drislane FW, Tsuchida TN. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. J Clin Neurophysiol. 2016 Aug; 33(4):320-3.
  3. Ulate-Campos A, Coughlin F, Gaínza-Lein M, Fernández IS, Pearl PL, Loddenkemper T. Automated seizure detection systems and their effectiveness for each type of seizure. Seizure. 2016 Aug; 40:88-101.
  4. Papadelis C, Ashkezari SF, Doshi C, Thome-Souza S, Pearl PL, Grant PE, Tasker RC, Loddenkemper T. Real-time multi-channel monitoring of burst-suppression using neural network technology during pediatric status epilepticus treatment. Clin Neurophysiol. 2016 Aug; 127(8):2820-31.
  5. Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 Jul; 57(7):1027-35.
  6. Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 May; 23(2):158-66.
  7. Pinto A, Sahin M, Pearl PL. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5.
  8. Pearl PL. From gene discovery to precision intervention in epilepsy: almost the end of the beginning. Dev Med Child Neurol. 2016 Apr; 58(4):330-1.
  9. Taskin BD, Karalok ZS, Gurkas E, Aydin K, Aydogmus U, Ceylaner S, Karaer K, Yilmaz C, Pearl PL. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 Jun; 31(7):938-41.
  10. Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 May; 58:113-5.
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  12. Harini C, Nagarajan E, Kimia AA, de Carvalho RM, An S, Bergin AM, Takeoka M, Pearl PL, Loddenkemper T. Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015 Nov; 52(Pt A):200-4.
  13. Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 8; 85(10):861-5.
  14. Yuskaitis CJ, Parviz M, Loui P, Wan CY, Pearl PL. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51.
  15. Weckhuysen S, Pearl PL. Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 1; 85(9):748-9.
  16. El Achkar CM, Olson HE, Poduri A, Pearl PL. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39.
  17. Rodan LH, Gibson KM, Pearl PL. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86.
  18. Whitehead MT, Nagaraj UD, Pearl PL. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205.
  19. Olson HE, Poduri A, Pearl PL. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79.
  20. Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL. 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.
  21. Helman G, Pappa MB, Pearl PL. Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:23-7.
  22. Pearl PL, McConnell ER, Fernandez R, Brooks-Kayal A. Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatr Neurol. 2014 Sep; 51(3):344-7.
  23. Pearl PL, Sable C, Evans S, Knight J, Cunningham P, Lotrecchiano GR, Gropman A, Stuart S, Glass P, Conway A, Ramadan I, Paiva T, Batshaw ML, Packer RJ. International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62.
  24. Pearl PL, Gospe SM. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22; 82(16):1392-4.
  25. Pearl PL, Schreiber J, Theodore WH, McCarter R, Barrios ES, Yu J, Wiggs E, He J, Gibson KM. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4.
  26. Helman G, Pappa MB, Pearl PL. Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:97.
  27. Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33.
  28. Bosemani T, Anghelescu C, Boltshauser E, Hoon AH, Pearl PL, Craiu D, Johnston MV, Huisman TA, Poretti A. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol. 2014 May; 18(3):249-56.
  29. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33.
  30. Pearl PL, McCarter R, McGavin CL, Yu Y, Sandoval F, Trzcinski S, Atabaki SM, Tsuchida T, van den Anker J, He J, Klein P. Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia. 2013 Sep; 54(9):e135-7.
  31. Forni S, Pearl PL, Gibson KM, Yu Y, Sweetman L. 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.
  32. Yu JY, Pearl PL. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013; 2013:124934.
  33. Forni S, Pearl PL, Gibson KM, Yu Y, Sweetman L. 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.
  34. Salpekar JA, Berl MM, Havens K, Cushner-Weinstein S, Conry JA, Pearl PL, Yaun AL, Gaillard WD. Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia. 2013 Jun; 54(6):1074-82.
  35. Pearl PL. Monoamine neurotransmitter deficiencies. Handb Clin Neurol. 2013; 113:1819-25.
  36. Pearl PL, Hyland K, Chiles J, McGavin CL, Yu Y, Taylor D. Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep. 2013; 9:139-42.
  37. Klein P, Herr D, Pearl PL, Natale J, Levine Z, Nogay C, Sandoval F, Trzcinski S, Atabaki SM, Tsuchida T, van den Anker J, Soldin SJ, He J, McCarter R. 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.
  38. Vanadia E, Gibson KM, Pearl PL, Trapolino E, Mangano S, Vanadia F. Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2013; 8:133-7.
  39. Pearl PL. Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 2012 Aug 21; 79(8):819.
  40. Klein P, Herr D, Pearl PL, Natale J, Levine Z, Nogay C, Sandoval F, Trzcinsky S, Atabaki SM, Tsuchida T, van den Anker J, Soldin SJ, He J, McCarter R. Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy Behav. 2012 Aug; 24(4):457-61.
  41. Vogel KR, Pearl PL, Theodore WH, McCarter RC, Jakobs C, Gibson KM. 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.
  42. Reis J, Cohen LG, Pearl PL, Fritsch B, Jung NH, Dustin I, Theodore WH. GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology. 2012 Jul 3; 79(1):47-54.
  43. Duke ES, Tesfaye M, Berl MM, Walker JE, Ritzl EK, Fasano RE, Conry JA, Pearl PL, Sato S, Theodore WH, Gaillard WD. The effect of seizure focus on regional language processing areas. Epilepsia. 2012 Jun; 53(6):1044-50.
  44. Pearl PL, Drillings IM, Conry JA. Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Semin Pediatr Neurol. 2011 Sep; 18(3):203-8.
  45. Pearl PL, Shukla L, Theodore WH, Jakobs C, Michael Gibson K. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev. 2011 Oct; 33(9):796-805.
  46. Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011 May; 68(5):665-71.
  47. Pearl PL, Pettiford JM, Combs SE, Heffron A, Healton S, Hovaguimian A, Macri CJ. 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.
  48. Kim KJ, Pearl PL, Jensen K, Snead OC, Malaspina P, Jakobs C, Gibson KM. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal. 2011 Aug 1; 15(3):691-718.
  49. Packer RJ, Villongco J, Batshaw M, Holbrook P, Gaillard WD, Pearl PL, Weinstein S, Zechman E. Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Pediatr Neurol. 2011 Jan; 44(1):1-9.
  50. Miller AK, Khademian Z, Pearl PL. Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol. 2010 Jul; 67(7):890-1.
  51. Acosta MT, Munasinghe J, Pearl PL, Gupta M, Finegersh A, Gibson KM, Theodore WH. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. J Child Neurol. 2010 Dec; 25(12):1457-61.
  52. Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010 Apr; 42(4):255-8.
  53. Pearl PL, Shamim S, Theodore WH, Gibson KM, Forester K, Combs SE, Lewin D, Dustin I, Reeves-Tyer P, Jakobs C, Sato S. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep. 2009 Dec; 32(12):1645-8.
  54. Pearl PL, Gibson KM, Quezado Z, Dustin I, Taylor J, Trzcinski S, Schreiber J, Forester K, Reeves-Tyer P, Liew C, Shamim S, Herscovitch P, Carson R, Butman J, Jakobs C, Theodore W. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 2009 Aug 11; 73(6):423-9.
  55. Pearl PL. Neurological problems of jazz legends. J Child Neurol. 2009 Aug; 24(8):1037-42.
  56. Rosenberger LR, Zeck J, Berl MM, Moore EN, Ritzl EK, Shamim S, Weinstein SL, Conry JA, Pearl PL, Sato S, Vezina LG, Theodore WH, Gaillard WD. Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Neurology. 2009 May 26; 72(21):1830-6.
  57. Hsieh DT, Pearl PL. Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology. 2009 Mar 24; 72(12):e56.
  58. Pearl PL. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis. 2009 Apr; 32(2):204-13.
  59. Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009 Jun; 32(3):343-52.
  60. Mbwana J, Berl MM, Ritzl EK, Rosenberger L, Mayo J, Weinstein S, Conry JA, Pearl PL, Shamim S, Moore EN, Sato S, Vezina LG, Theodore WH, Gaillard WD. Limitations to plasticity of language network reorganization in localization related epilepsy. Brain. 2009 Feb; 132(Pt 2):347-56.
  61. Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, Gaillard WD. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009 Feb; 50(2):184-94.
  62. Knerr I, Gibson KM, Jakobs C, Pearl PL. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008 Jul; 13(7):598-605.
  63. Hsieh DT, Gropman AL, Pearl PL. A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann. 2008 Jul; 37(7):459-60, 463.
  64. Cushner-Weinstein S, Dassoulas K, Salpekar JA, Henderson SE, Pearl PL, Gaillard WD, Weinstein SL. Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy Behav. 2008 Jul; 13(1):109-14.
  65. Pearl PL, Conry JA, Yaun A, Taylor JL, Heffron AM, Sigman M, Tsuchida TN, Elling NJ, Bruce DA, Gaillard WD. Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatr Neurol. 2008 Apr; 38(4):248-51.
  66. Hsieh DT, Walker JM, Pearl PL. Infantile seizures: infants are not just little children. Curr Neurol Neurosci Rep. 2008 Mar; 8(2):139-44.
  67. Knerr I, Pearl PL. Ketogenic diet: stoking energy stores and still posing questions. Exp Neurol. 2008 May; 211(1):11-3.
  68. Gaillard WD, Berl MM, Moore EN, Ritzl EK, Rosenberger LR, Weinstein SL, Conry JA, Pearl PL, Ritter FF, Sato S, Vezina LG, Vaidya CJ, Wiggs E, Fratalli C, Risse G, Ratner NB, Gioia G, Theodore WH. Atypical language in lesional and nonlesional complex partial epilepsy. Neurology. 2007 Oct 30; 69(18):1761-71.
  69. Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May; 22(5):606-16.
  70. Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. 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.
  71. Gaillard WD, Weinstein S, Conry J, Pearl PL, Fazilat S, Fazilat S, Vezina LG, Reeves-Tyer P, Theodore WH. Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology. 2007 Feb 27; 68(9):655-9.
  72. Pearl PL, Gospe SM. Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; 30(1):2-4.
  73. Cushner-Weinstein S, Berl M, Salpekar JA, Johnson JL, Pearl PL, Conry JA, Kolodgie M, Scully A, Gaillard WD, Weinstein SL. The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Epilepsy Behav. 2007 Feb; 10(1):170-8.
  74. Pearl PL, Hartka TR, Taylor J. Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol. 2006 Nov; 8(6):441-50.
  75. Salpekar JA, Conry JA, Doss W, Cushner-Weinstein S, Pearl PL, Weinstein SL, Gaillard WD. Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Epilepsy Behav. 2006 Sep; 9(2):327-34.
  76. Pearl PL, McClintock WM. 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.
  77. Donarum EA, Stephan DA, Larkin K, Murphy EJ, Gupta M, Senephansiri H, Switzer RC, Pearl PL, Snead OC, Jakobs C, Gibson KM. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2006 Feb; 29(1):143-56.
  78. Berl MM, Balsamo LM, Xu B, Moore EN, Weinstein SL, Conry JA, Pearl PL, Sachs BC, Grandin CB, Frattali C, Ritter FJ, Sato S, Theodore WH, Gaillard WD. Seizure focus affects regional language networks assessed by fMRI. Neurology. 2005 Nov 22; 65(10):1604-11.
  79. Pearl PL, Capp PK, Novotny EJ, Gibson KM. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005 Dec; 38(12):1051-8.
  80. Gibson KM, Jakobs C, Pearl PL, Snead OC. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life. 2005 Sep; 57(9):639-44.
  81. Pearl PL, Robbins EL, Bennett HD, Conry JA. Use of complementary and alternative therapies in epilepsy: cause for concern. Arch Neurol. 2005 Sep; 62(9):1472-5.
  82. Capp PK, Pearl PL, Lewin D. Pediatric sleep disorders. Prim Care. 2005 Jun; 32(2):549-62.
  83. Capp PK, Pearl PL, Conlon C. Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Expert Rev Neurother. 2005 May; 5(3):325-31.
  84. Pearl PL, Bennett HD, Khademian Z. Seizures and metabolic disease. Curr Neurol Neurosci Rep. 2005 Mar; 5(2):127-33.
  85. Gaillard WD, Balsamo L, Xu B, McKinney C, Papero PH, Weinstein S, Conry J, Pearl PL, Sachs B, Sato S, Vezina LG, Frattali C, Theodore WH. fMRI language task panel improves determination of language dominance. Neurology. 2004 Oct 26; 63(8):1403-8.
  86. Acosta MT, Pearl PL. Imaging data in autism: from structure to malfunction. Semin Pediatr Neurol. 2004 Sep; 11(3):205-13.
  87. Barakat AJ, Pearl PL, Acosta MT, Runkle BP. 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Clin Dysmorphol. 2004 Jul; 13(3):191-4.
  88. Dervent A, Gibson KM, Pearl PL, Salomons GS, Jakobs C, Yalcinkaya C. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clin Neurophysiol. 2004 Jun; 115(6):1417-22.
  89. Pearl PL, Gibson KM. Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol. 2004 Apr; 17(2):107-13.
  90. Pearl PL, Gropman A. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004 Apr; 55(4):599; author reply 599.
  91. Pearl PL, Wallis DD, Gibson KM. Pediatric neurotransmitter diseases. Curr Neurol Neurosci Rep. 2004 Mar; 4(2):147-52.
  92. Stein MA, Sarampote CS, Waldman ID, Robb AS, Conlon C, Pearl PL, Black DO, Seymour KE, Newcorn JH. A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Pediatrics. 2003 Nov; 112(5):e404.
  93. Gibson KM, Gupta M, Pearl PL, Tuchman M, Vezina LG, Snead OC, Smit LM, Jakobs C. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry. 2003 Oct 1; 54(7):763-8.
  94. Pearl PL. Sleep problems, stimulants, and ADHD: true, true, unrelated? Sleep Med. 2003 Jul; 4(4):271-2.
  95. Rotenberg J, Pearl PL. Landau-Kleffner syndrome. Arch Neurol. 2003 Jul; 60(7):1019-21.
  96. Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, Novotny EJ, Gropman A, Conry JA, Berry GT, Tuchman M. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13; 60(9):1413-7.
  97. Acosta MT, Pearl PL. The neurobiology of autism: new pieces of the puzzle. Curr Neurol Neurosci Rep. 2003 Mar; 3(2):149-56.
  98. Efron LA, Pearl PL. Too much energy for rest. Sleep problems in children with ADHD. Adv Nurse Pract. 2003 Feb; 11(2):57-8, 91.
  99. Gupta M, Hogema BM, Grompe M, Bottiglieri TG, Concas A, Biggio G, Sogliano C, Rigamonti AE, Pearl PL, Snead OC, Jakobs C, Gibson KM. Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol. 2003; 54 Suppl 6:S81-90.
  100. Novotny EJ, Fulbright RK, Pearl PL, Gibson KM, Rothman DL. Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol. 2003; 54 Suppl 6:S25-31.
  101. Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol. 2003; 54 Suppl 6:S73-80.
  102. Gaillard WD, Balsamo L, Xu B, Grandin CB, Braniecki SH, Papero PH, Weinstein S, Conry J, Pearl PL, Sachs B, Sato S, Jabbari B, Vezina LG, Frattali C, Theodore WH. Language dominance in partial epilepsy patients identified with an fMRI reading task. Neurology. 2002 Jul 23; 59(2):256-65.
  103. Pearl PL, LaFleur BJ, Reigle SC, Rich AS, Freeman AA, McCutchen C, Sato S. Sawtooth wave density analysis during REM sleep in normal volunteers. Sleep Med. 2002 May; 3(3):255-8.
  104. Pearl PL, Efron L, Stein MA. Children, sleep, and behavior: a complex association. Minerva Pediatr. 2002 Apr; 54(2):79-91.
  105. Gaillard WD, Kopylev L, Weinstein S, Conry J, Pearl PL, Spanaki MV, Fazilat S, Fazilat S, Venzina LG, Dubovsky E, Theodore WH. 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.
  106. Pearl PL. Childhood sleep disorders: diagnostic and therapeutic approaches. Curr Neurol Neurosci Rep. 2002 Mar; 2(2):150-7.
  107. Sarampote CS, Efron LA, Robb AS, Pearl PL, Stein MA. Can stimulant rebound mimic pediatric bipolar disorder? J Child Adolesc Psychopharmacol. 2002; 12(1):63-7.
  108. Pearl PL, Weiss RE, Stein MA. Medical mimics. Medical and neurological conditions simulating ADHD. Ann N Y Acad Sci. 2001 Jun; 931:97-112.
  109. Pearl PL, Krasnewich D. Neurologic course of congenital disorders of glycosylation. J Child Neurol. 2001 Jun; 16(6):409-13.
  110. Cadavid D, Pearl PL, Dubovsky EC, Angiolillo A, Vezina LG. Stroke after zoster ophthalmicus in a 12-year-old girl with protein C deficiency. Neurology. 1999 Sep 22; 53(5):1128-9.
  111. Aisner J, Wiernik PH, Pearl P. Pregnancy outcome in patients treated for Hodgkin's disease. J Clin Oncol. 1993 Mar; 11(3):507-12.
  112. Pearl PL, Abu-Farsakh H, Starke JR, Dreyer Z, Louis PT, Kirkpatrick JB. Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic. Pediatr Neurol. 1990 Mar-Apr; 6(2):126-30.
  113. Pearl PL. Childhood stroke following intraoral trauma. J Pediatr. 1987 Apr; 110(4):574-5.
  114. Medani CR, Pearl PL, Hall-Craggs M. Acute renal failure, hemolytic anemia, and thrombocytopenia in poststreptococcal glomerulonephritis. South Med J. 1987 Mar; 80(3):370-3.
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