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Researcher | Research 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.

Researcher | Research Background

Phillip L. Pearl, M.D. is Director of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital and William G. Lennox Chair and Professor of Neurology at Harvard Medical School.  Dr. Pearl, originally from Baltimore, attended Johns Hopkins University and Peabody Conservatory of Music, and University of Maryland School of Medicine.  He took his residency at Baylor College of Medicine in Houston and fellowship at Boston Children’s Hospital.  He was Division Chief of Neurology at Children’s National Medical Center and Professor of Neurology, Pediatrics, and Music at the George Washington University School of Medicine in Washington, DC, where he spent 23 years from 1990-2013, until relocating to Boston in January 2014. Dr. Pearl just recently completed his 2-year term as President of the Professors of Child Neurology and 6-year term as a member of the Neurology Residency Review Committee of the ACGME.

 

Researcher | Publications