Phillip L. Pearl

Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Harvard Medical School

Affiliated withBoston Children's Hospital, Harvard Medical School

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 59	2016

Other Publications

Article	Year
Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy & behavior : E&B\| PubMed ID: 22771222	2012
Childhood sleep disorders: diagnostic and therapeutic approaches. Current neurology and neuroscience reports\| PubMed ID: 11898482	2002
Can stimulant rebound mimic pediatric bipolar disorder? Journal of child and adolescent psychopharmacology\| PubMed ID: 12014597	2002
The neurobiology of autism: new pieces of the puzzle. Current neurology and neuroscience reports\| PubMed ID: 12583844	2003
Too much energy for rest. Sleep problems in children with ADHD. Advance for nurse practitioners\| PubMed ID: 12640820	2003
Landau-Kleffner syndrome. Archives of neurology\| PubMed ID: 12873863	2003
Magnetic resonance spectroscopy of neurotransmitters in human brain. Annals of neurology\| PubMed ID: 12891651	2003
Succinic semialdehyde dehydrogenase deficiency in children and adults. Annals of neurology\| PubMed ID: 12891657	2003
Murine succinate semialdehyde dehydrogenase deficiency. Annals of neurology\| PubMed ID: 12891658	2003
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biological psychiatry\| PubMed ID: 14512218	2003
Sawtooth wave density analysis during REM sleep in normal volunteers. Sleep medicine\| PubMed ID: 14592215	2002
Sleep problems, stimulants, and ADHD: true, true, unrelated? Sleep medicine\| PubMed ID: 14592297	2003
A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Pediatrics\| PubMed ID: 14595084	2003
Pediatric neurotransmitter diseases. Current neurology and neuroscience reports\| PubMed ID: 14984687	2004
Clinical aspects of the disorders of GABA metabolism in children. Current opinion in neurology\| PubMed ID: 15021235	2004
Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Annals of neurology\| PubMed ID: 15048909	2004
22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Clinical dysmorphology\| PubMed ID: 15194959	2004
The Landau-Kleffner Syndrome. Epilepsy currents\| PubMed ID: 15309183	2001
Imaging data in autism: from structure to malfunction. Seminars in pediatric neurology\| PubMed ID: 15575415	2004
Seizures and metabolic disease. Current neurology and neuroscience reports\| PubMed ID: 15743550	2005
Pediatric sleep disorders. Primary care\| PubMed ID: 15935200	2005
Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Expert review of neurotherapeutics\| PubMed ID: 15938665	2005
Use of complementary and alternative therapies in epilepsy: cause for concern. Archives of neurology\| PubMed ID: 16157759	2005
Inherited disorders of neurotransmitters in children and adults. Clinical biochemistry\| PubMed ID: 16298354	2005
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease\| PubMed ID: 16601881	2006
Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN. Neurology\| PubMed ID: 16636263	2006
Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Epilepsy & behavior : E&B\| PubMed ID: 16861047	2006
Diagnosis and treatment of neurotransmitter disorders. Current treatment options in neurology\| PubMed ID: 17032564	2006
The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Epilepsy & behavior : E&B\| PubMed ID: 17145202	2007
The pediatric neurotransmitter disorders. Journal of child neurology\| PubMed ID: 17690069	2007
Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatric neurology\| PubMed ID: 18358402	2008
Ketogenic diet: stoking energy stores and still posing questions. Experimental neurology\| PubMed ID: 18374334	2008
Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy & behavior : E&B\| PubMed ID: 18442950	2008
Infantile seizures: infants are not just little children. Current neurology and neuroscience reports\| PubMed ID: 18460282	2008
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS spectrums\| PubMed ID: 18622364	2008
A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatric annals\| PubMed ID: 18710135	2008
Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia\| PubMed ID: 18783433	2009
Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology\| PubMed ID: 19307535	2009
Neurological problems of jazz legends. Journal of child neurology\| PubMed ID: 19666887	2009
Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep\| PubMed ID: 20041601	2009
Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatric neurology\| PubMed ID: 20304328	2010
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. Journal of child neurology\| PubMed ID: 20445195	2010
Uveitis and white matter abnormalities in pediatric sarcoidosis. Archives of neurology\| PubMed ID: 20625101	2010
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxidants & redox signaling\| PubMed ID: 20973619	2011
Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Pediatric neurology\| PubMed ID: 21147380	2011
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Archives of neurology\| PubMed ID: 21555645	2011
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\| PubMed ID: 21618382	2011
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain & development\| PubMed ID: 21664777	2011
Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Seminars in pediatric neurology\| PubMed ID: 22062945	2011
The effect of seizure focus on regional language processing areas. Epilepsia\| PubMed ID: 22554135	2012
GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology\| PubMed ID: 22722631	2012
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Journal of inherited metabolic disease\| PubMed ID: 22739941	2013
Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Archives of neurology\| PubMed ID: 22777131	2012
Comment: Right-sizing adult neurology training for the child neurologist. Neurology\| PubMed ID: 22786598	2012
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD reports\| PubMed ID: 23430529	2013
Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD reports\| PubMed ID: 23430561	2013
Monoamine neurotransmitter deficiencies. Handbook of clinical neurology\| PubMed ID: 23622404	2013
Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia\| PubMed ID: 23662984	2013
Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Molecular genetics and metabolism\| PubMed ID: 23742746	2013
Metabolic causes of epileptic encephalopathy. Epilepsy research and treatment\| PubMed ID: 23762547	2013
Inherited disorders of GABA metabolism. Future neurology\| PubMed ID: 23842532	2006
Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Molecular genetics and metabolism\| PubMed ID: 23867525	2013
Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia\| PubMed ID: 23876024	2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion\| PubMed ID: 23891656	2014
Subthalamic nucleus involvement in children: A neuroimaging pattern-recognition approach. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society\| PubMed ID: 24149100	2013
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology\| PubMed ID: 24523482	2014
Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology\| PubMed ID: 24658927	2014
International telemedicine consultations for neurodevelopmental disabilities. Telemedicine journal and e-health : the official journal of the American Telemedicine Association\| PubMed ID: 24660879	2014
Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatric neurology\| PubMed ID: 24993248	2014
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD reports\| PubMed ID: 25001633	2014
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. Journal of child neurology\| PubMed ID: 25038129	2014
Genetic forms of epilepsies and other paroxysmal disorders. Seminars in neurology\| PubMed ID: 25192505	2014
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. Journal of pediatric epilepsy\| PubMed ID: 25485164	2014
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Developmental medicine and child neurology\| PubMed ID: 25558043	2014
Neuroimaging features of Cornelia de Lange syndrome. Pediatric radiology\| PubMed ID: 25701113	2015
Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD reports\| PubMed ID: 25944030	2014
The genetics of the epilepsies. Current neurology and neuroscience reports\| PubMed ID: 26008807	2015
Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Current neurology and neuroscience reports\| PubMed ID: 26092314	2015
Clinical Use of CSF Neurotransmitters. Pediatric neurology\| PubMed ID: 26194033	2015
Gene sleuthing in pyridoxine-dependent epilepsy. Neurology\| PubMed ID: 26224728	2015
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology\| PubMed ID: 26268900	2015
Utility of initial EEG in first complex febrile seizure. Epilepsy & behavior : E&B\| PubMed ID: 26448592	2015
From gene discovery to precision intervention in epilepsy: almost the end of the beginning. Developmental medicine and child neurology\| PubMed ID: 26890147	2016
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Research\| PubMed ID: 27019697	2016
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatric neurology\| PubMed ID: 27268762	2016
SCN8A encephalopathy: Research progress and prospects. Epilepsia\| PubMed ID: 27270488	2016
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD reports\| PubMed ID: 27338723	2016
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\| PubMed ID: 27417058	2016
American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society\| PubMed ID: 27482791	2016
Amenable Treatable Severe Pediatric Epilepsies. Seminars in pediatric neurology\| PubMed ID: 27544473	2016
SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. Journal of pediatric epilepsy\| PubMed ID: 27595042	2016
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatric neurology\| PubMed ID: 27600546	2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurology. Genetics\| PubMed ID: 27602407	2016
Texting rhythm with temporal predominance. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society\| PubMed ID: 27749506	2016
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD reports\| PubMed ID: 27815844	2016