Phillip L. Pearl Division of Epilepsy and Clinical Neurophysiology, Department of Neurology Boston Children's Hospital, Harvard Medical School Biography Publications Institution JoVE Articles Phillip L. Pearl has not added a biography. If you are Phillip L. Pearl and would like to personalize this page please email our Author Liaison for assistance. Publications Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency JIMD Reports. Nov, 2016 | Pubmed ID: 27815844 Texting Rhythm with Temporal Predominance Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society. Oct, 2016 | Pubmed ID: 27749506 KCNQ2 Encephalopathy: Features, Mutational Hot Spots, and Ezogabine Treatment of 11 Patients Neurology. Genetics. Oct, 2016 | Pubmed ID: 27602407 SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures Pediatric Neurology. Jul, 2016 | Pubmed ID: 27600546 SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital Journal of Pediatric Epilepsy. Mar, 2016 | Pubmed ID: 27595042 Amenable Treatable Severe Pediatric Epilepsies Seminars in Pediatric Neurology. May, 2016 | Pubmed ID: 27544473 American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society. Aug, 2016 | Pubmed ID: 27482791 Real-time Multi-channel Monitoring of Burst-suppression Using Neural Network Technology During Pediatric Status Epilepticus Treatment Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. Aug, 2016 | Pubmed ID: 27417058 Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency JIMD Reports. 2016 | Pubmed ID: 27338723 SCN8A Encephalopathy: Research Progress and Prospects Epilepsia. Jul, 2016 | Pubmed ID: 27270488 Acute Infantile Encephalopathy As Presentation of Succinic Semialdehyde Dehydrogenase Deficiency Pediatric Neurology. May, 2016 | Pubmed ID: 27268762 Epileptogenesis in Neurocutaneous Disorders with Focus in Sturge Weber Syndrome F1000Research. 2016 | Pubmed ID: 27019697 From Gene Discovery to Precision Intervention in Epilepsy: Almost the End of the Beginning Developmental Medicine and Child Neurology. Apr, 2016 | Pubmed ID: 26890147 Utility of Initial EEG in First Complex Febrile Seizure Epilepsy & Behavior : E&B. Nov, 2015 | Pubmed ID: 26448592 Natural History of Succinic Semialdehyde Dehydrogenase Deficiency Through Adulthood Neurology. Sep, 2015 | Pubmed ID: 26268900 Gene Sleuthing in Pyridoxine-dependent Epilepsy Neurology. Sep, 2015 | Pubmed ID: 26224728 Clinical Use of CSF Neurotransmitters Pediatric Neurology. Oct, 2015 | Pubmed ID: 26194033 Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia Current Neurology and Neuroscience Reports. Aug, 2015 | Pubmed ID: 26092314 The Genetics of the Epilepsies Current Neurology and Neuroscience Reports. Jul, 2015 | Pubmed ID: 26008807 Neuroimaging Features of Cornelia De Lange Syndrome Pediatric Radiology. Jul, 2015 | Pubmed ID: 25701113 Erratum To: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis JIMD Reports. 2014 | Pubmed ID: 25944030 Inherited Disorders of Gamma-aminobutyric Acid Metabolism and Advances in ALDH5A1 Mutation Identification Developmental Medicine and Child Neurology. Dec, 2014 | Pubmed ID: 25558043 Disorders of GABA Metabolism: SSADH and GABA-transaminase Deficiencies Journal of Pediatric Epilepsy. Nov, 2014 | Pubmed ID: 25485164 Genetic Forms of Epilepsies and Other Paroxysmal Disorders Seminars in Neurology. Jul, 2014 | Pubmed ID: 25192505 Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes-associated Mitochondrial DNA A3243G Mutation Journal of Child Neurology. Sep, 2014 | Pubmed ID: 25038129 Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis JIMD Reports. 2014 | Pubmed ID: 25001633 Survey of the Professors of Child Neurology: Neurology Versus pediatrics Home for Child Neurology Pediatric Neurology. Sep, 2014 | Pubmed ID: 24993248 International Telemedicine Consultations for Neurodevelopmental Disabilities Telemedicine Journal and E-health : the Official Journal of the American Telemedicine Association. Jun, 2014 | Pubmed ID: 24660879 Pyridoxine or Pyridoxal-5'-phosphate for Neonatal Epilepsy: the Distinction Just Got Murkier Neurology. Apr, 2014 | Pubmed ID: 24658927 Taurine Trial in Succinic Semialdehyde Dehydrogenase Deficiency and Elevated CNS GABA Neurology. Mar, 2014 | Pubmed ID: 24523482 Practice Patterns of Mitochondrial Disease Physicians in North America. Part 1: Diagnostic and Clinical Challenges Mitochondrion. Jan, 2014 | Pubmed ID: 23891656 Subthalamic Nucleus Involvement in Children: A neuroimaging Pattern-recognition Approach European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Oct, 2013 | Pubmed ID: 24149100 Results of Phase II Levetiracetam Trial Following Acute Head Injury in Children at Risk for Posttraumatic Epilepsy Epilepsia. Sep, 2013 | Pubmed ID: 23876024 Response to Stove and Colleagues Concerning Newborn Screening of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency in Dried Blood Spots Molecular Genetics and Metabolism. Sep-Oct, 2013 | Pubmed ID: 23867525 Metabolic Causes of Epileptic Encephalopathy Epilepsy Research and Treatment. 2013 | Pubmed ID: 23762547 Quantitation of Gamma-hydroxybutyric Acid in Dried Blood Spots: Feasibility Assessment for Newborn Screening of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Molecular Genetics and Metabolism. Jul, 2013 | Pubmed ID: 23742746 Psychiatric Symptoms in Children Prior to Epilepsy Surgery Differ According to Suspected Seizure Focus Epilepsia. Jun, 2013 | Pubmed ID: 23662984 Monoamine Neurotransmitter Deficiencies Handbook of Clinical Neurology. 2013 | Pubmed ID: 23622404 Partial Pyridoxine Responsiveness in PNPO Deficiency JIMD Reports. 2013 | Pubmed ID: 23430561 Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency JIMD Reports. 2013 | Pubmed ID: 23430529 Thirty Years Beyond Discovery--clinical Trials in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism Journal of Inherited Metabolic Disease. May, 2013 | Pubmed ID: 22739941 Comment: Right-sizing Adult Neurology Training for the Child Neurologist Neurology. Aug, 2012 | Pubmed ID: 22786598 Results of Phase 2 Safety and Feasibility Study of Treatment with Levetiracetam for Prevention of Posttraumatic Epilepsy Archives of Neurology. Oct, 2012 | Pubmed ID: 22777131 Results of Phase II Pharmacokinetic Study of Levetiracetam for Prevention of Post-traumatic Epilepsy Epilepsy & Behavior : E&B. Aug, 2012 | Pubmed ID: 22771222 GABAB-ergic Motor Cortex Dysfunction in SSADH Deficiency Neurology. Jul, 2012 | Pubmed ID: 22722631 The Effect of Seizure Focus on Regional Language Processing Areas Epilepsia. Jun, 2012 | Pubmed ID: 22554135 Herbs in Epilepsy: Evidence for Efficacy, Toxicity, and Interactions Seminars in Pediatric Neurology. Sep, 2011 | Pubmed ID: 22062945 Epilepsy in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism Brain & Development. Oct, 2011 | Pubmed ID: 21664777 Assessment of Genetics Knowledge and Skills in Medical Students: Insight for a Clinical Neurogenetics Curriculum Biochemistry and Molecular Biology Education : a Bimonthly Publication of the International Union of Biochemistry and Molecular Biology. May-Jun, 2011 | Pubmed ID: 21618382 Novel SCN1A Mutation in a Proband with Malignant Migrating Partial Seizures of Infancy Archives of Neurology. May, 2011 | Pubmed ID: 21555645 Center for Neuroscience and Behavioral Medicine: an Innovative Administrative Structure and Possible Paradigm for the Future Pediatric Neurology. Jan, 2011 | Pubmed ID: 21147380 Succinic Semialdehyde Dehydrogenase: Biochemical-molecular-clinical Disease Mechanisms, Redox Regulation, and Functional Significance Antioxidants & Redox Signaling. Aug, 2011 | Pubmed ID: 20973619 Uveitis and White Matter Abnormalities in Pediatric Sarcoidosis Archives of Neurology. Jul, 2010 | Pubmed ID: 20625101 Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency Journal of Child Neurology. Dec, 2010 | Pubmed ID: 20445195 Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency Pediatric Neurology. Apr, 2010 | Pubmed ID: 20304328 Polysomnographic Abnormalities in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Sleep. Dec, 2009 | Pubmed ID: 20041601 Neurological Problems of Jazz Legends Journal of Child Neurology. Aug, 2009 | Pubmed ID: 19666887 Teaching Video NeuroImages: Preserved Awareness in a Frontal Seizure with Bilateral Motor Involvement: a Psychogenic Mimic Neurology. Mar, 2009 | Pubmed ID: 19307535 Cerebral MRI Abnormalities Associated with Vigabatrin Therapy Epilepsia. Feb, 2009 | Pubmed ID: 18783433 A 2-year-old Male with Developmental Delay, Irritability, and Failure to Thrive Pediatric Annals. Jul, 2008 | Pubmed ID: 18710135 Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients CNS Spectrums. Jul, 2008 | Pubmed ID: 18622364 Infantile Seizures: Infants Are Not Just Little Children Current Neurology and Neuroscience Reports. Mar, 2008 | Pubmed ID: 18460282 Parenting Stress and Childhood Epilepsy: the Impact of Depression, Learning, and Seizure-related Factors Epilepsy & Behavior : E&B. Jul, 2008 | Pubmed ID: 18442950 Ketogenic Diet: Stoking Energy Stores and Still Posing Questions Experimental Neurology. May, 2008 | Pubmed ID: 18374334 Misidentification of Vagus Nerve Stimulator for Intravenous Access and Other Major Adverse Events Pediatric Neurology. Apr, 2008 | Pubmed ID: 18358402 The Pediatric Neurotransmitter Disorders Journal of Child Neurology. May, 2007 | Pubmed ID: 17690069 The Benefits of a Camp Designed for Children with Epilepsy: Evaluating Adaptive Behaviors over 3 Years Epilepsy & Behavior : E&B. Feb, 2007 | Pubmed ID: 17145202 Inherited Disorders of GABA Metabolism Future Neurology. Sep, 2006 | Pubmed ID: 23842532 Diagnosis and Treatment of Neurotransmitter Disorders Current Treatment Options in Neurology. Nov, 2006 | Pubmed ID: 17032564 Clinical Experience with Anticonvulsant Medication in Pediatric Epilepsy and Comorbid Bipolar Spectrum Disorder Epilepsy & Behavior : E&B. Sep, 2006 | Pubmed ID: 16861047 Addendum to Assessment: Prevention of Post-lumbar Puncture Headaches: Report of the TTAS of the AAN Neurology. Apr, 2006 | Pubmed ID: 16636263 Expression Profiling Reveals Multiple Myelin Alterations in Murine Succinate Semialdehyde Dehydrogenase Deficiency Journal of Inherited Metabolic Disease. Feb, 2006 | Pubmed ID: 16601881 Inherited Disorders of Neurotransmitters in Children and Adults Clinical Biochemistry. Dec, 2005 | Pubmed ID: 16298354 Use of Complementary and Alternative Therapies in Epilepsy: Cause for Concern Archives of Neurology. Sep, 2005 | Pubmed ID: 16157759 Methylphenidate HCl: Therapy for Attention Deficit Hyperactivity Disorder Expert Review of Neurotherapeutics. May, 2005 | Pubmed ID: 15938665 Pediatric Sleep Disorders Primary Care. Jun, 2005 | Pubmed ID: 15935200 Seizures and Metabolic Disease Current Neurology and Neuroscience Reports. Mar, 2005 | Pubmed ID: 15743550 Imaging Data in Autism: from Structure to Malfunction Seminars in Pediatric Neurology. Sep, 2004 | Pubmed ID: 15575415 22q13 Deletion Syndrome with Central Diabetes Insipidus: a Previously Unreported Association Clinical Dysmorphology. Jul, 2004 | Pubmed ID: 15194959 Monitoring Gamma-hydroxybutyric Acid Levels in Succinate-semialdehyde Dehydrogenase Deficiency Annals of Neurology. Apr, 2004 | Pubmed ID: 15048909 Clinical Aspects of the Disorders of GABA Metabolism in Children Current Opinion in Neurology. Apr, 2004 | Pubmed ID: 15021235 Pediatric Neurotransmitter Diseases Current Neurology and Neuroscience Reports. Mar, 2004 | Pubmed ID: 14984687 A Dose-response Study of OROS Methylphenidate in Children with Attention-deficit/hyperactivity Disorder Pediatrics. Nov, 2003 | Pubmed ID: 14595084 Sleep Problems, Stimulants, and ADHD: True, True, Unrelated? Sleep Medicine. Jul, 2003 | Pubmed ID: 14592297 Significant Behavioral Disturbances in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency (gamma-hydroxybutyric Aciduria) Biological Psychiatry. Oct, 2003 | Pubmed ID: 14512218 Murine Succinate Semialdehyde Dehydrogenase Deficiency Annals of Neurology. 2003 | Pubmed ID: 12891658 Succinic Semialdehyde Dehydrogenase Deficiency in Children and Adults Annals of Neurology. 2003 | Pubmed ID: 12891657 Magnetic Resonance Spectroscopy of Neurotransmitters in Human Brain Annals of Neurology. 2003 | Pubmed ID: 12891651 Landau-Kleffner Syndrome Archives of Neurology. Jul, 2003 | Pubmed ID: 12873863 Too Much Energy for Rest. Sleep Problems in Children with ADHD Advance for Nurse Practitioners. Feb, 2003 | Pubmed ID: 12640820 The Neurobiology of Autism: New Pieces of the Puzzle Current Neurology and Neuroscience Reports. Mar, 2003 | Pubmed ID: 12583844 Sawtooth Wave Density Analysis During REM Sleep in Normal Volunteers Sleep Medicine. May, 2002 | Pubmed ID: 14592215 Can Stimulant Rebound Mimic Pediatric Bipolar Disorder? Journal of Child and Adolescent Psychopharmacology. 2002 | Pubmed ID: 12014597 Childhood Sleep Disorders: Diagnostic and Therapeutic Approaches Current Neurology and Neuroscience Reports. Mar, 2002 | Pubmed ID: 11898482 The Landau-Kleffner Syndrome Epilepsy Currents. Nov, 2001 | Pubmed ID: 15309183 Interiktalen Hochfrequenzoszillationen Erkannte mit Simultaneous Magnetoencephalographie und Elektroenzephalographie als Biomarker für Pädiatrische Epilepsie Christos Papadelis1, Eleonora Tamilia1, Steven Stufflebeam2, Patricia E. Grant1, Joseph R. Madsen3, Phillip L. Pearl4, Naoaki Tanaka2 1Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 2Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, 3Division of Epilepsy Surgery, Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, 4Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School JoVE 54883 Medicina
Interiktalen Hochfrequenzoszillationen Erkannte mit Simultaneous Magnetoencephalographie und Elektroenzephalographie als Biomarker für Pädiatrische Epilepsie Christos Papadelis1, Eleonora Tamilia1, Steven Stufflebeam2, Patricia E. Grant1, Joseph R. Madsen3, Phillip L. Pearl4, Naoaki Tanaka2 1Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 2Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, 3Division of Epilepsy Surgery, Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, 4Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School JoVE 54883 Medicina