Phillip L. Pearl

Phillip L. Pearl, MD

Director, Epilepsy and Clinical Neurophysiology, Boston Children's Hospital; William G. Lennox Chair and Professor of Neurology, Harvard Medical School.

Research Focus

Inherited metabolic epilepsies.

Brief Research Description

Dr. Pearl's research focus is metabolic epilepsy and the pediatric neurotransmitter disorders, specifically disorders of GABA metabolism. He is currently running a five year natural history study of succinic semialdehyde dehydrogenase (SSADH) deficiency, a hyper-GABA’ergic disorder manifest by neurodevelopmental impairment, epilepsy, profound language disability, sleep disorders, ataxia, and high SUDEP rate with early mortality. He is focusing on correlative studies in developing biomarkers reflecting GABA metabolism with age, and current investigations employ MRI and spectroscopy edited for GABA imaging and quantitation, high density EEG, MEG, TMS, neuropsychological examinations, and metabolite measurements.

Key Publications (PMCIDs)

Age-related phenotype and biomarker changes in SSADH deficiency.
DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL.
Ann Clin Transl Neurol. 2018 Dec 3;6(1):114-120. doi: 10.1002/acn3.696. PMID: 30656189; PMCID: PMC6331944

GABA Transaminase Deficiency With Survival Into Adulthood.
Hegde AU, Karnavat PK, Vyas R, DiBacco ML, Grant PE, Pearl PL.
J Child Neurol. 2019 Mar;34(4):216-220. doi: 10.1177/0883073818823359. Epub 2019 Jan 15. PMID: 30644311

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Brown M, Ashcraft P, Arning E, Bottiglieri T, McClintock W, Giancola F, Lieberman D, Hauser NS, Miller R, Roullet JB, Pearl P, Gibson KM.
Mol Genet Genomic Med. 2019 May;7(5):e629. doi: 10.1002/mgg3.629. Epub 2019 Mar 4. PMID: 30829465; PMCID: PMC6503008

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