Research Topics
Species | P L PearlSummaryAffiliation: Children's National Medical Center Country: USA Publications
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Publications
The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 yearsSandra 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...- Neurologic course of congenital disorders of glycosylationP 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... - Succinic semialdehyde dehydrogenase deficiency: lessons from mice and menP 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... - Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolismPhillip 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... - Pediatric neurotransmitter diseasesPhillip 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... - Clinical aspects of the disorders of GABA metabolism in childrenPhillip 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... - The pediatric neurotransmitter disordersPhillip 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... - Seizures and metabolic diseasePhillip 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... - Misidentification of vagus nerve stimulator for intravenous access and other major adverse eventsPhillip 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... - Use of complementary and alternative therapies in epilepsy: cause for concernPhillip L Pearl
Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA
Arch Neurol 62:1472-5. 2005 - Succinic semialdehyde dehydrogenase deficiency in children and adultsPhillip 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.... - New treatment paradigms in neonatal metabolic epilepsiesP 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... - Diagnosis and treatment of neurotransmitter disordersPhillip 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... - Clinical spectrum of succinic semialdehyde dehydrogenase deficiencyP 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... - Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculumPhillip 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... - Neurological problems of jazz legendsPhillip 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... - Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiencyP 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... - Childhood sleep disorders: diagnostic and therapeutic approachesPhillip 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... - Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiencyPhillip 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... - Interhemispheric and intrahemispheric language reorganization in complex partial epilepsyL 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... - Limitations to plasticity of language network reorganization in localization related epilepsyJ 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... - Atypical language in lesional and nonlesional complex partial epilepsyW 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... - Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patientsIna 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... - Prognosis of children with partial epilepsy: MRI and serial 18FDG-PETW 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... - Medical mimics. Medical and neurological conditions simulating ADHDP 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... - Infantile seizures: infants are not just little childrenDavid 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... - The neurobiology of autism: new pieces of the puzzleMaria 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... - Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factorsSandra 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... - Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorderJay 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... - Imaging data in autism: from structure to malfunctionMaria 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... - Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the futureRoger 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... - Seizure focus affects regional language networks assessed by fMRIM M Berl
Department of Neurosciences, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA
Neurology 65:1604-11. 2005..Regional activation patterns reflect adaptive efforts at recruiting more widespread language processing networks that are differentially affected based on hemisphere of seizure focus... - fMRI language task panel improves determination of language dominanceW 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)... - Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective studyW 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... - 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.... - Inherited disorders of neurotransmitters in children and adultsPhillip 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... - Too much energy for rest. Sleep problems in children with ADHDLisa 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 - Pediatric sleep disordersPhilip 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... - Language dominance in partial epilepsy patients identified with an fMRI reading taskW 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... - Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancyEmily 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... - Neuropathology in succinic semialdehyde dehydrogenase deficiencyIna 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... - Cerebral MRI abnormalities associated with vigabatrin therapyPhillip 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... - Ketogenic diet: stoking energy stores and still posing questionsIna 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 - Landau-Kleffner syndromeJoshua Rotenberg
Department of Child and Adolescent Neurology, Walter Reed Army Medical Center, Washington, DC, USA
Arch Neurol 60:1019-21. 2003 - 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.... - Magnetic resonance spectroscopy of neurotransmitters in human brainEdward 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... - Murine succinate semialdehyde dehydrogenase deficiencyManeesh 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... - Sleep problems, stimulants, and ADHD: true, true, unrelated?Phillip L Pearl
Sleep Med 4:271-2. 2003 - Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiencyPhillip L Pearl
Ann Neurol 55:599; author reply 599. 2004 - 22q13 deletion syndrome with central diabetes insipidus: a previously unreported associationAmin 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... - Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiencyElizabeth A Donarum
Developmental Neurogenetics Research Laboratory, Barrow Neurological Institute, Phoenix, Arizona, USA
J Inherit Metab Dis 29:143-56. 2006.... - Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AANPhillip L Pearl
Neurology 66:1285; author reply 1285. 2006