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.

About Phillip Pearl

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 Services

Researcher Areas

  • Metabolic Epilepsy

Research Departments

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Tanaka N, Papadelis C, Tamilia E, Madsen JR, Pearl PL, Stufflebeam SM. Magnetoencephalographic Mapping of Epileptic Spike Population Using Distributed Source Analysis: Comparison With Intracranial Electroencephalographic Spikes. J Clin Neurophysiol. 2018 Apr 27. View abstract
  2. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 May 03; 102(5):995-1007. View abstract
  3. Pearl PL. GABA: no longer the faithful neurotransmitter. Dev Med Child Neurol. 2018 Apr 06. View abstract
  4. Harini C, Sharda S, Bergin AM, Poduri A, Yuskaitis CJ, Peters JM, Rakesh K, Kapur K, Pearl PL, Prabhu SP. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 May; 33(6):405-412. View abstract
  5. Tanaka N, Papadelis C, Tamilia E, AlHilani M, Madsen JR, Pearl PL, Stufflebeam SM. Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Pediatr Neurol. 2018 Jun; 83:25-31. View abstract
  6. Pearl PL, Poduri A, Prabhu SP, Harini C, Goldstein R, Atkinson RM, Armstrong D, Kinney H. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 Apr; 59(4):e40-e44. View abstract
  7. Fung FW, Libenson MH, Bolton J, Pearl PL, Kapur K, Marti C, Paris A, Bergin AM, Harini C. Seizure clustering during presurgical electroencephalographic monitoring in children. Epilepsy Behav. 2018 Mar; 80:291-295. View abstract
  8. Pearl PL. Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):186-209. View abstract
  9. Klein P, Dingledine R, Aronica E, Bernard C, Blümcke I, Boison D, Brodie MJ, Brooks-Kayal AR, Engel J, Forcelli PA, Hirsch LJ, Kaminski RM, Klitgaard H, Kobow K, Lowenstein DH, Pearl PL, Pitkänen A, Puhakka N, Rogawski MA, Schmidt D, Sillanpää M, Sloviter RS, Steinhäuser C, Vezzani A, Walker MC, Löscher W. Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Epilepsia. 2018 Jan; 59(1):37-66. View abstract
  10. Vega C, Sánchez Fernández I, Peters J, Thome-Souza MS, Jackson M, Takeoka M, Wilkening GN, Pearl PL, Chapman K, Loddenkemper T. Response to clobazam in continuous spike-wave during sleep. Dev Med Child Neurol. 2018 03; 60(3):283-289. View abstract
  11. Sansevere AJ, Duncan ED, Libenson MH, Loddenkemper T, Pearl PL, Tasker RC. Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. J Clin Neurophysiol. 2017 Sep; 34(5):421-426. View abstract
  12. Buraniqi E, Sansevere AJ, Kapur K, Bergin AM, Pearl PL, Loddenkemper T. Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. J Child Neurol. 2017 Sep; 32(10):880-885. View abstract
  13. Guerriero RM, Patel AA, Walsh B, Baumer FM, Shah AS, Peters JM, Rodan LH, Agrawal PB, Pearl PL, Takeoka M. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View abstract
  14. Sansevere AJ, Avalone J, Strauss LD, Patel AA, Pinto A, Ramachandran M, Fernandez IS, Bergin AM, Kimia A, Pearl PL, Loddenkemper T. 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 Jul; 32(8):774-788. View abstract
  15. Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View abstract
  16. Nabbout R, Andrade DM, Bahi-Buisson N, Cross H, Desquerre I, Dulac O, Granata T, Hirsch E, Navarro V, Ouss L, Pearl PL, Schmidt D, Thiele E, Camfield PR, Camfield CS. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. View abstract
  17. Johansen SS, Wang X, Sejer Pedersen D, Pearl PL, Roullet JB, Ainslie GR, Vogel KR, Gibson KM. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2017; 36:93-98. View abstract
  18. Vogel KR, Ainslie GR, Pearl PL, Gibson KM. Aberrant mTOR signaling and disrupted autophagy: The missing link in potential vigabatrin-associated ocular toxicity? Clin Pharmacol Ther. 2017 Apr; 101(4):458-461. View abstract
  19. Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, Joshi N, Kelly M, Koolen DA, Mikati MA, Park K, Pearl PL, Scheffer IE, Spillmann RC, Taglialatela M, Vieker S, Weckhuysen S, Cooper EC, Cilio MR. 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
  20. Tamilia E, Madsen JR, Grant PE, Pearl PL, Papadelis C. Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Front Neurol. 2017; 8:14. View abstract
  21. Sánchez Fernández I, Sansevere AJ, Guerriero RM, Buraniqi E, Pearl PL, Tasker RC, Loddenkemper T. Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Epilepsia. 2017 03; 58(3):420-428. View abstract
  22. Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. 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
  23. Papadelis C, Tamilia E, Stufflebeam S, Grant PE, Madsen JR, Pearl PL, Tanaka N. Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. J Vis Exp. 2016 12 06; (118). View abstract
  24. Tomko S, Loddenkemper T, Pearl PL. Texting Rhythm With Temporal Predominance. J Clin Neurophysiol. 2016 Dec; 33(6):570. View abstract
  25. Stamoulis C, Verma N, Kaulas H, Halford JJ, Duffy FH, Pearl PL, Treves ST. 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
  26. Attri SV, Singhi P, Wiwattanadittakul N, Goswami JN, Sankhyan N, Salomons GS, Roullett JB, Hodgeman R, Parviz M, Gibson KM, Pearl PL. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017; 34:111-115. View abstract
  27. Jansen EE, Vogel KR, Salomons GS, Pearl PL, Roullet JB, Gibson KM. 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
  28. 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. View abstract
  29. 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. View abstract
  30. Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 Nov; 64:77-79. View abstract
  31. Schreiber JM, Pearl PL, Dustin I, Wiggs E, Barrios E, Wassermann EM, Gibson KM, Theodore WH. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2016; 30:81-87. View abstract
  32. 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. View abstract
  33. Malaspina P, Roullet JB, Pearl PL, Ainslie GR, Vogel KR, Gibson KM. 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
  34. 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 08; 127(8):2820-31. View abstract
  35. 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 07; 57(7):1027-35. View abstract
  36. Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 05; 23(2):158-66. View abstract
  37. Pinto A, Sahin M, Pearl PL. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View abstract
  38. Baumer FM, Peters JM, El Achkar CM, Pearl PL. SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View abstract
  39. 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. View abstract
  40. 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 06; 31(7):938-41. View abstract
  41. Kuratani J, Pearl PL, Sullivan LR, Riel-Romero RMS, Cheek J, Stecker MM, Orta DSJ, Selioutski O, Sinha SR, Drislane FW, Tsuchida TN. American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Neurodiagn J. 2016; 56(4):266-275. View abstract
  42. Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 05; 58:113-5. View abstract
  43. 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. View abstract
  44. 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 08; 85(10):861-5. View abstract
  45. 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. View abstract
  46. Weckhuysen S, Pearl PL. Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 01; 85(9):748-9. View abstract
  47. El Achkar CM, Olson HE, Poduri A, Pearl PL. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View abstract
  48. Rodan LH, Gibson KM, Pearl PL. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View abstract
  49. Whitehead MT, Nagaraj UD, Pearl PL. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205. View abstract
  50. 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. View abstract
  51. Parviz M, Vogel K, Gibson KM, Pearl PL. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. View abstract
  52. Olson HE, Poduri A, Pearl PL. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View abstract
  53. 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. View abstract
  54. 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. View abstract
  55. 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. View abstract
  56. 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. View abstract
  57. 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. View abstract
  58. 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. View abstract
  59. 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. View abstract
  60. 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. View abstract
  61. 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. View abstract
  62. 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. View abstract
  63. 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. View abstract
  64. 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. View abstract
  65. Yu JY, Pearl PL. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013; 2013:124934. View abstract
  66. 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. View abstract
  67. 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. View abstract
  68. Pearl PL. Monoamine neurotransmitter deficiencies. Handb Clin Neurol. 2013; 113:1819-25. View abstract
  69. Pearl PL, Hyland K, Chiles J, McGavin CL, Yu Y, Taylor D. Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep. 2013; 9:139-142. View abstract
  70. 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. View abstract
  71. 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. View abstract
  72. Pearl PL. Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 2012 Aug 21; 79(8):819. View abstract
  73. 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. View abstract
  74. 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. View abstract
  75. 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 03; 79(1):47-54. View abstract
  76. 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. View abstract
  77. Pearl PL, Drillings IM, Conry JA. Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Semin Pediatr Neurol. 2011 Sep; 18(3):203-8. View abstract
  78. 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. View abstract
  79. 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. View abstract
  80. 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. View abstract
  81. 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 01; 15(3):691-718. View abstract
  82. 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. View abstract
  83. Miller AK, Khademian Z, Pearl PL. Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol. 2010 Jul; 67(7):890-1. View abstract
  84. 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. View abstract
  85. 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. View abstract
  86. 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. View abstract
  87. 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. View abstract
  88. Pearl PL. Neurological problems of jazz legends. J Child Neurol. 2009 Aug; 24(8):1037-42. View abstract
  89. 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. View abstract
  90. 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. View abstract
  91. Pearl PL. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis. 2009 Apr; 32(2):204-13. View abstract
  92. 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. View abstract
  93. 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. View abstract
  94. 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. View abstract
  95. 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. View abstract
  96. 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. View abstract
  97. 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. View abstract
  98. 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. View abstract
  99. Hsieh DT, Walker JM, Pearl PL. Infantile seizures: infants are not just little children. Curr Neurol Neurosci Rep. 2008 Mar; 8(2):139-44. View abstract
  100. Knerr I, Pearl PL. Ketogenic diet: stoking energy stores and still posing questions. Exp Neurol. 2008 May; 211(1):11-3. View abstract
  101. 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. View abstract
  102. Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol. 2007 May; 22(5):606-16. View abstract
  103. 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. View abstract
  104. 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. View abstract
  105. Pearl PL, Gospe SM. Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; 30(1):2-4. View abstract
  106. 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. View abstract
  107. Pearl PL, Hartka TR, Taylor J. Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol. 2006 Nov; 8(6):441-50. View abstract
  108. Pearl PL, Hartka TR, Cabalza JL, Taylor J, Gibson MK. Inherited disorders of GABA metabolism. Future Neurol. 2006 Sep; 1(5):631-636. View abstract
  109. 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. View abstract
  110. 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. View abstract
  111. 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. View abstract
  112. Delorme R, Betancur C, Wagner M, Krebs MO, Gorwood P, Pearl P, Nygren G, Durand CM, Buhtz F, Pickering P, Melke J, Ruhrmann S, Anckarsäter H, Chabane N, Kipman A, Reck C, Millet B, Roy I, Mouren-Simeoni MC, Maier W, Råstam M, Gillberg C, Leboyer M, Bourgeron T. 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
  113. 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. View abstract
  114. Pearl PL, Capp PK, Novotny EJ, Gibson KM. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005 Dec; 38(12):1051-8. View abstract
  115. 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. View abstract
  116. 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. View abstract
  117. Capp PK, Pearl PL, Lewin D. Pediatric sleep disorders. Prim Care. 2005 Jun; 32(2):549-62. View abstract
  118. Capp PK, Pearl PL, Conlon C. Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Expert Rev Neurother. 2005 May; 5(3):325-31. View abstract
  119. Pearl PL, Bennett HD, Khademian Z. Seizures and metabolic disease. Curr Neurol Neurosci Rep. 2005 Mar; 5(2):127-33. View abstract
  120. 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. View abstract
  121. Acosta MT, Pearl PL. Imaging data in autism: from structure to malfunction. Semin Pediatr Neurol. 2004 Sep; 11(3):205-13. View abstract
  122. 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. View abstract
  123. 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. View abstract
  124. Pearl PL, Gibson KM. Clinical aspects of the disorders of GABA metabolism in children. Curr Opin Neurol. 2004 Apr; 17(2):107-13. View abstract
  125. Pearl PL, Gropman A. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004 Apr; 55(4):599; author reply 599. View abstract
  126. Pearl PL, Wallis DD, Gibson KM. Pediatric neurotransmitter diseases. Curr Neurol Neurosci Rep. 2004 Mar; 4(2):147-52. View abstract
  127. 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. View abstract
  128. 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 01; 54(7):763-8. View abstract
  129. Pearl PL. Sleep problems, stimulants, and ADHD: true, true, unrelated? Sleep Med. 2003 Jul; 4(4):271-2. View abstract
  130. Rotenberg J, Pearl PL. Landau-Kleffner syndrome. Arch Neurol. 2003 Jul; 60(7):1019-21. View abstract
  131. 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. View abstract
  132. Acosta MT, Pearl PL. The neurobiology of autism: new pieces of the puzzle. Curr Neurol Neurosci Rep. 2003 Mar; 3(2):149-56. View abstract
  133. 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. View abstract
  134. 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. View abstract
  135. 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. View abstract
  136. 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. View abstract
  137. 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. View abstract
  138. 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. View abstract
  139. Pearl PL, Efron L, Stein MA. Children, sleep, and behavior: a complex association. Minerva Pediatr. 2002 Apr; 54(2):79-91. View abstract
  140. 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. View abstract
  141. Pearl PL. Childhood sleep disorders: diagnostic and therapeutic approaches. Curr Neurol Neurosci Rep. 2002 Mar; 2(2):150-7. View abstract
  142. 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. View abstract
  143. Pearl PL, Carrazana EJ, Holmes GL. The Landau-Kleffner Syndrome. Epilepsy Curr. 2001 Nov; 1(2):39-45. View abstract
  144. Pearl PL, Weiss RE, Stein MA. Medical mimics. Medical and neurological conditions simulating ADHD. Ann N Y Acad Sci. 2001 Jun; 931:97-112. View abstract
  145. Pearl PL, Krasnewich D. Neurologic course of congenital disorders of glycosylation. J Child Neurol. 2001 Jun; 16(6):409-13. View abstract
  146. 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. View abstract
  147. Aisner J, Wiernik PH, Pearl P. Pregnancy outcome in patients treated for Hodgkin's disease. J Clin Oncol. 1993 Mar; 11(3):507-12. View abstract
  148. Olver IN, Pearl P, Wiernik PH, Aisner J. 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
  149. 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. View abstract
  150. Belani CP, Pearl P, Whitley NO, Aisner J. Tamoxifen withdrawal response. Report of a case. Arch Intern Med. 1989 Feb; 149(2):449-50. View abstract
  151. Abrams J, Pearl P, Moody M, Schimpff SC. Epithelioid granulomas revisited: long-term follow-up in Hodgkin's disease. Am J Clin Oncol. 1988 Aug; 11(4):456-60. View abstract
  152. Butler IJ, Rouah E, Pearl P. Dementia, rigidity and seizures in an adolescent boy. Pediatr Neurosci. 1988; 14(6):307-14. View abstract
  153. Pearl PL. Childhood stroke following intraoral trauma. J Pediatr. 1987 Apr; 110(4):574-5. View abstract
  154. 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. View abstract
  155. Dutcher JP, Haney PJ, Whitley NO, Finley R, Pearl P, Didolkar MS, Wiernik PH. Ethiodized oil emulsion 13 in computed tomography of hepatoma. J Clin Oncol. 1984 Feb; 2(2):118-23. View abstract