P L Pearl

Summary

Affiliation: Children's National Medical Center
Country: USA

Publications

  1. ncbi request reprint The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years
    Sandra Cushner-Weinstein
    Children s National Medical Center, Division of Neurosciences and Behavioral Medicine, Department of Neurology, George Washington University School of Medicine and Health Sciences, Washington, DC 20010 2970, USA
    Epilepsy Behav 10:170-8. 2007
  2. doi request reprint Monoamine neurotransmitter deficiencies
    Phillip L Pearl
    Children s National Medical Center, George Washington University School of Medicine and Columbian College of Arts and Sciences, Washington, DC, USA Electronic address
    Handb Clin Neurol 113:1819-25. 2013
  3. doi request reprint New treatment paradigms in neonatal metabolic epilepsies
    P L Pearl
    Department of Neurology, Neuroscience Center of Excellence and Clinical Research Institute, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    J Inherit Metab Dis 32:204-13. 2009
  4. pmc Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men
    P L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, 111 Michigan Avenue, NW, Washington, DC 20010 2970, USA
    J Inherit Metab Dis 32:343-52. 2009
  5. ncbi request reprint Pediatric neurotransmitter diseases
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010 2970, USA
    Curr Neurol Neurosci Rep 4:147-52. 2004
  6. ncbi request reprint Clinical aspects of the disorders of GABA metabolism in children
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    Curr Opin Neurol 17:107-13. 2004
  7. ncbi request reprint Neurologic course of congenital disorders of glycosylation
    P L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, 20010, USA
    J Child Neurol 16:409-13. 2001
  8. ncbi request reprint The pediatric neurotransmitter disorders
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA
    J Child Neurol 22:606-16. 2007
  9. ncbi request reprint Seizures and metabolic disease
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
    Curr Neurol Neurosci Rep 5:127-33. 2005
  10. ncbi request reprint Use of complementary and alternative therapies in epilepsy: cause for concern
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    Arch Neurol 62:1472-5. 2005

Collaborators

Detail Information

Publications53

  1. ncbi request reprint The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years
    Sandra Cushner-Weinstein
    Children s National Medical Center, Division of Neurosciences and Behavioral Medicine, Department of Neurology, George Washington University School of Medicine and Health Sciences, Washington, DC 20010 2970, USA
    Epilepsy Behav 10:170-8. 2007
    ..Children with epilepsy attending a condition-specific overnight camp were evaluated for behavioral changes over 3 consecutive years, using a modification of the Vineland Adaptive Behavioral Scale...
  2. doi request reprint Monoamine neurotransmitter deficiencies
    Phillip L Pearl
    Children s National Medical Center, George Washington University School of Medicine and Columbian College of Arts and Sciences, Washington, DC, USA Electronic address
    Handb Clin Neurol 113:1819-25. 2013
    ..Basal ganglia calcifications in dihydropteridine reductase deficiency are reversible with folinic acid. Deficiencies of monoamine degradation lead to cognitive, behavioral, and autonomic disorders...
  3. doi request reprint New treatment paradigms in neonatal metabolic epilepsies
    P L Pearl
    Department of Neurology, Neuroscience Center of Excellence and Clinical Research Institute, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    J Inherit Metab Dis 32:204-13. 2009
    ..The startle syndrome of hyperekplexia, which mimics neonatal epilepsy, has been associated with laryngospasm and sudden death but is treated with benzodiazepines...
  4. pmc Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men
    P L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, 111 Michigan Avenue, NW, Washington, DC 20010 2970, USA
    J Inherit Metab Dis 32:343-52. 2009
    ..Promising mouse data using compounds available for clinical use, including taurine and SGS-742, form the framework for human trials...
  5. ncbi request reprint Pediatric neurotransmitter diseases
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010 2970, USA
    Curr Neurol Neurosci Rep 4:147-52. 2004
    ..As proper collection, handling, and interpretation of cerebrospinal fluid is required for assessment of most of these disorders, we end by summarizing important considerations for obtaining cerebrospinal fluid samples...
  6. ncbi request reprint Clinical aspects of the disorders of GABA metabolism in children
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    Curr Opin Neurol 17:107-13. 2004
    ..There has been increased recognition of the pediatric neurotransmitter disorders. This review focuses on the clinical disorders of GABA metabolism...
  7. ncbi request reprint Neurologic course of congenital disorders of glycosylation
    P L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, 20010, USA
    J Child Neurol 16:409-13. 2001
    ..The neuroradiologic data do not support a thrombotic, embolic, or hemorrhagic basis for strokelike episodes in carbohydrate-deficient glycoprotein syndrome; other mechanisms must be considered...
  8. ncbi request reprint The pediatric neurotransmitter disorders
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA
    J Child Neurol 22:606-16. 2007
    ..Pyridoxine-dependent seizures have now been associated with deficiency of alpha-aminoadipic semialdehyde dehydrogenase, as well as a new variant requiring therapy with pyridoxal-5-phosphate, the biologically active form of pyridoxine...
  9. ncbi request reprint Seizures and metabolic disease
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
    Curr Neurol Neurosci Rep 5:127-33. 2005
    ..Specific laboratory, imaging, and treatment considerations are included to present updated material in a field that continues to expand rapidly...
  10. ncbi request reprint Use of complementary and alternative therapies in epilepsy: cause for concern
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    Arch Neurol 62:1472-5. 2005
  11. doi request reprint Misidentification of vagus nerve stimulator for intravenous access and other major adverse events
    Phillip L Pearl
    Department of Neurology and Department of Neurosurgery, Children s National Medical Center, Washington, DC 20010 1970, USA
    Pediatr Neurol 38:248-51. 2008
    ..Unanticipated adverse events included misidentification of the wire for intravenous access, clipping of the wire during surgical dissection, and cervical dysesthesias associated with head-turning...
  12. ncbi request reprint Succinic semialdehyde dehydrogenase deficiency in children and adults
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, The George Washington University School of Medicine, Washington, DC 20010 2970, USA
    Ann Neurol 54:S73-80. 2003
    ....
  13. doi request reprint Neurological problems of jazz legends
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, The George Washington University School of Medicine, Washington, D C, USA
    J Child Neurol 24:1037-42. 2009
    ..Bud Powell had severe posttraumatic headaches after being struck by a police stick defending Thelonious Monk during a Harlem club raid...
  14. ncbi request reprint Childhood sleep disorders: diagnostic and therapeutic approaches
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010 2970, USA
    Curr Neurol Neurosci Rep 2:150-7. 2002
    ..This will lead to enhanced understanding of what regulates stage rapid eye movement, and to novel therapeutic advances for hypersomnolence...
  15. doi request reprint Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    Brain Dev 33:796-805. 2011
    ..Epilepsy affects half of patients. The murine model is associated with a transition from absence to convulsive seizures in the third week, with fatal status epilepticus...
  16. doi request reprint Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum
    Phillip L Pearl
    Department of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, DC
    Biochem Mol Biol Educ 39:191-5. 2011
    ..g. OMIM) and indications for support group recommendations and genetics referrals. Teaching these more specific genetics skills and concepts needs to be emphasized in the clinical curriculum...
  17. pmc Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency
    Phillip L Pearl
    Neuroscience Center, CNMC, George Washington University School of Medicine, Washington, DC, USA
    Sleep 32:1645-8. 2009
    ..Patients with SSADH deficiency, a disorder of chronically elevated endogenous GABA and GHB, were studied for sleep symptoms and polysomnography. We hypothesized that patients would have excessive daytime somnolence and decreased REM sleep...
  18. ncbi request reprint Diagnosis and treatment of neurotransmitter disorders
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    Curr Treat Options Neurol 8:441-50. 2006
    ..Other disorders of GABA metabolism, as is true of the wide spectrum of neurotransmitter disorders, will require increasing use of CSF analysis for diagnosis, and ultimately, treatment...
  19. ncbi request reprint Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
    P L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Health Sciences, Washington, DC 20010 2970, USA
    Neurology 60:1413-7. 2003
    ..Urine organic acid analysis should include a sensitive method for the detection of 4-hydroxybutyrate and should be obtained from patients with mental retardation or neuropsychiatric disturbance of unknown etiology...
  20. pmc Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency
    P L Pearl
    Department of Neurology, Children s National Medical Center, Washington, DC 20010 2970, USA
    Neurology 73:423-9. 2009
    ..We studied GABA(A) receptor activity in human SSADH deficiency utilizing [(11)C]-flumazenil (FMZ)-PET...
  21. pmc Limitations to plasticity of language network reorganization in localization related epilepsy
    J Mbwana
    Department of Neuroscience, Children s National Medical Center, Washington, District of Columbia 20010, USA
    Brain 132:347-56. 2009
    ..These methods may be applied to investigate both normal and pathological variance in other developmental disorders and cognitive domains...
  22. pmc Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy
    L R Rosenberger
    Department of Neuroscience, Children s National Medical Center, 111 Michigan Ave NW, Washington, DC 20010, USA
    Neurology 72:1830-6. 2009
    ..To investigate interhemispheric and intrahemispheric reorganization in patients with localization-related epilepsy...
  23. ncbi request reprint Atypical language in lesional and nonlesional complex partial epilepsy
    W D Gaillard
    Department of Neuroscience, Children s National Medical Center, George Washington University School of Medicine, 111 Michigan Ave NW, Washington, DC 20010, USA
    Neurology 69:1761-71. 2007
    ..We investigated the relationship between partial epilepsy, MRI findings, and atypical language representation...
  24. pmc Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients
    Ina Knerr
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    CNS Spectr 13:598-605. 2008
    ..While neurological manifestations, such as developmental delay, are typical during infancy, limited data are available on adolescent and adult symptomatology...
  25. ncbi request reprint Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET
    W D Gaillard
    Clinical Epilepsy Section, NINDS, Division of Intramural Research, Washington, DC, USA
    Neurology 68:655-9. 2007
    ..To study the evolution of cerebral glucose metabolism after partial seizure onset in children, and its relation to clinical variables...
  26. ncbi request reprint Medical mimics. Medical and neurological conditions simulating ADHD
    P L Pearl
    Department of Pediatrics and Neurology, George Washington University School of Medicine and Children's National Medical Center, Washington, DC 20010, USA
    Ann N Y Acad Sci 931:97-112. 2001
    ..Associated thyroid disorders are reviewed, including the syndrome of resistance to thyroid hormone. Suggested laboratory studies are provided, depending on the clinical circumstances...
  27. doi request reprint Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors
    Sandra Cushner-Weinstein
    Center for Neuroscience and Behavioral Medicine, Children s National Medical Center, Department of Neurology, George Washington University School of Medicine and Health Sciences, Washington, DC 20010 2970, USA
    Epilepsy Behav 13:109-14. 2008
    ..The purpose of this study was to evaluate stress in parents of children with epilepsy relative to the impact of childhood depression, learning disorders, and seizure-related risk factors...
  28. ncbi request reprint Infantile seizures: infants are not just little children
    David T Hsieh
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
    Curr Neurol Neurosci Rep 8:139-44. 2008
    ..This is an especially challenging task with seizures in infants. A semiologic system based upon simple descriptive terms has been proposed, which the neurologist and pediatrician will recognize as closer to clinical experience...
  29. ncbi request reprint The neurobiology of autism: new pieces of the puzzle
    Maria T Acosta
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010 2970, USA
    Curr Neurol Neurosci Rep 3:149-56. 2003
    ..The role of acquired factors is speculative, with insufficient evidence to link the measles-mumps-rubella (MMR) vaccine with autism or to change immunization practices...
  30. ncbi request reprint Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder
    Jay A Salpekar
    Department of Psychiatry and Behavioral Sciences, Children s National Medical Center, The George Washington University School of Medicine, Washington, DC, USA
    Epilepsy Behav 9:327-34. 2006
    ..01). Results suggest that in many cases, selected anticonvulsants appeared to simultaneously treat both epilepsy and mood disorder. Controlled trials are necessary to further ascertain optimal anticonvulsant usage...
  31. ncbi request reprint Imaging data in autism: from structure to malfunction
    Maria T Acosta
    Department of Neurology, Children s National Medical Center, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010 2970, USA
    Semin Pediatr Neurol 11:205-13. 2004
    ..There appears to be a pattern of increased and then decreased rate of brain growth over time. We integrate these observations with neurobehavioral findings to provide a developmental hypothesis of the pathophysiology of autism...
  32. doi request reprint Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future
    Roger J Packer
    Center for Neuroscience and Behavioral Medicine, Children s National Medical Center, Washington, DC 20010, USA
    Pediatr Neurol 44:1-9. 2011
    ..The strengths, limitations, and challenges of this structure in terms of child neurology are reviewed. This administrative structure has been successful and may act as a model for other programs...
  33. ncbi request reprint Seizure focus affects regional language networks assessed by fMRI
    M M Berl
    Department of Neurosciences, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    Neurology 65:1604-11. 2005
    ..To investigate the degree of language dominance in patients with left and right hemisphere seizure foci compared to normal volunteers using a fMRI reading comprehension task...
  34. ncbi request reprint Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective study
    W D Gaillard
    Department of Neurology, Children s National Medical Center, The George Washington University School of Medicine, Washington, DC 20010, USA
    Neurology 58:717-22. 2002
    ..Patients with refractory partial epilepsy often exhibit regional hypometabolism. It is unknown whether the metabolic abnormalities are present at seizure onset or develop over time...
  35. ncbi request reprint fMRI language task panel improves determination of language dominance
    W D Gaillard
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, 111 Michigan Ave NW, Washington, DC 20010, USA
    Neurology 63:1403-8. 2004
    ..fMRI language tasks reliably identify language areas in presurgical epilepsy patients, but activation using single paradigms may disagree with the intracarotid amobarbital test (IAT)...
  36. ncbi request reprint Inherited disorders of neurotransmitters in children and adults
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine and Health Sciences, Washington, DC 22052, USA
    Clin Biochem 38:1051-8. 2005
    ..The most common disorder of GABA metabolism is SSADH deficiency, which has a broad phenotype of mental retardation, epilepsy, ataxia, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB...
  37. ncbi request reprint Can stimulant rebound mimic pediatric bipolar disorder?
    Christopher S Sarampote
    Department of Psychology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC 20010, USA
    J Child Adolesc Psychopharmacol 12:63-7. 2002
    ....
  38. ncbi request reprint Too much energy for rest. Sleep problems in children with ADHD
    Lisa A Efron
    Children s National Medical Center, George Washington University School of Medicine, Washington, D C, USA
    Adv Nurse Pract 11:57-8, 91. 2003
  39. ncbi request reprint Pediatric sleep disorders
    Philip K Capp
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, George Washington University School of Medicine and Health Sciences, Washington, DC 20010 2970, USA
    Prim Care 32:549-62. 2005
    ..Sleep disorders place children at risk for school failure, accidents, and social problems, and can place a significant burden on families and the parent-child relationship...
  40. ncbi request reprint Language dominance in partial epilepsy patients identified with an fMRI reading task
    W D Gaillard
    Department of Neurosciences, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    Neurology 59:256-65. 2002
    ..fMRI language tasks readily identify frontal language areas; temporal activation has been less consistent. No studies have compared clinical visual judgment to quantitative region of interest (ROI) analysis...
  41. pmc Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy
    Emily R Freilich
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010 2970, USA
    Arch Neurol 68:665-71. 2011
    ..To characterize a novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy...
  42. doi request reprint Cerebral MRI abnormalities associated with vigabatrin therapy
    Phillip L Pearl
    Department of Neurology, Children s National Medical Center, Washington DC, USA
    Epilepsia 50:184-94. 2009
    ..Investigate whether patients on vigabatrin demonstrated new-onset and reversible T(2)-weighted magnetic resonance imaging (MRI) abnormalities...
  43. pmc Neuropathology in succinic semialdehyde dehydrogenase deficiency
    Ina Knerr
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC, USA
    Pediatr Neurol 42:255-8. 2010
    ..1226G>A, p.Gly409Asp in the living sister, it was confirmed in the decedent. An underlying metabolic disease may be an additional risk factor for sudden unexpected death in epilepsy patients...
  44. ncbi request reprint Landau-Kleffner syndrome
    Joshua Rotenberg
    Department of Child and Adolescent Neurology, Walter Reed Army Medical Center, Washington, DC, USA
    Arch Neurol 60:1019-21. 2003
  45. doi request reprint Ketogenic diet: stoking energy stores and still posing questions
    Ina Knerr
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine, Washington, DC 20010, USA
    Exp Neurol 211:11-3. 2008
  46. ncbi request reprint Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria)
    K Michael Gibson
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97201, USA
    Biol Psychiatry 54:763-8. 2003
    ....
  47. ncbi request reprint Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN
    Phillip L Pearl
    Neurology 66:1285; author reply 1285. 2006
  48. ncbi request reprint Magnetic resonance spectroscopy of neurotransmitters in human brain
    Edward J Novotny
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Ann Neurol 54:S25-31. 2003
    ..Here, we review the MRS techniques and studies of neurotransmitters in the human brain. A discussion of the potential use of these techniques in the context of certain pediatric neurotransmitter disorders will be presented...
  49. ncbi request reprint Murine succinate semialdehyde dehydrogenase deficiency
    Maneesh Gupta
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97201, USA
    Ann Neurol 54:S81-90. 2003
    ..The SSADH(-/-) mouse may represent a useful model in which to explore the effect of GABA and GHB accumulation on central nervous system development and function...
  50. ncbi request reprint Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency
    Elizabeth A Donarum
    Developmental Neurogenetics Research Laboratory, Barrow Neurological Institute, Phoenix, Arizona, USA
    J Inherit Metab Dis 29:143-56. 2006
    ....
  51. ncbi request reprint Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency
    Phillip L Pearl
    Ann Neurol 55:599; author reply 599. 2004
  52. ncbi request reprint 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association
    Amin J Barakat
    Georgetown University Medical Center, Washington, DC, USA
    Clin Dysmorphol 13:191-4. 2004
    ..The association of 22q13 deletion syndrome with central diabetes insipidus is reported for the first time...
  53. ncbi request reprint Sleep problems, stimulants, and ADHD: true, true, unrelated?
    Phillip L Pearl
    Sleep Med 4:271-2. 2003