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


  • Epilepsy Seizures


  • Neurology


  • English


  • 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


Medical Degree

University of Maryland School of Medicine, 1984

Baltimore, Maryland


Pediatrics-Baylor College of Medicine, 1984-1986

Houston, Texas


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

Houston, Texas


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

Boston, Massachusetts


  • 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


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, 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.

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.

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.

To schedule an appointment: Call 617-355-2413 or Request an Appointment


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