Phillip Pearl, MD
Co-Director, Epilepsy Center; Director, Epilepsy and Clinical Neurophysiology
William G. Lennox Chair and Professor of Neurology, Harvard Medical School
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Phillip Pearl, MD
Co-Director, Epilepsy Center; Director, Epilepsy and Clinical Neurophysiology
William G. Lennox Chair and Professor of Neurology, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
University of Maryland School of Medicine
1984
Baltimore
MD
Residency
Pediatrics
Baylor College of Medicine
1986
Houston
TX
Residency
Neurology and Child Neurology
Baylor College of Medicine
1989
Houston
TX
Fellowship
Clinical Neurophysiology
Boston Children's Hospital, Beth Israel Hospital, Harvard Medical School
1990
Boston
MA
Media
Caregiver Profile
Meet Dr. Phillip Pearl
Epilepsy Q&A
Watch as Dr. Phillip Pearl answers questions about epilepsy.
ICNApedia
Dr. Phillip Pearl is featured in ICNA's new monthly initiative entitled "Neurology through Art and Time."
Certifications
American Board of Pediatrics (General)
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
American Board of Psychiatry and Neurology (Clinical Neurophysiology)
American Board of Psychiatry and Neurology (Neurodevelopmental Disabilities)
Professional History
Phillip L. Pearl, MD is Director of Epilepsy and Clinical Neurophysiology and William G. Lennox Chair in the Department of Neurology at Boston Children’s Hospital and Professor of Neurology at Harvard Medical School. Dr. Pearl, originally from Baltimore, attended Johns Hopkins University, 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.
Dr. Pearl has published over 275 manuscripts, over 100 chapters and reviews, and authored or edited five books in the field of child neurology, two of which have been translated into Chinese and Japanese. Dr. Pearl is Co-Editor in Chief of the 7th Edition of Swaiman’s Pediatric Neurology (2025), the standard text in the field. He is also on the faculty of the Music and Health Institute of the Berklee College of Music in Boston. His major research interest is inherited metabolic epilepsies. Dr. Pearl is Past President of the Professors and Educators of Child Neurology and of the Child Neurology Society.
Approach to Care
When I was 11 years old, I devoured a book called "Stories of Great Physicians." I was an avid reader as a boy and was captivated by tales of Hippocrates, Pasteur, Salk and others. I remember thinking that being a doctor had to be the best thing to be; early experiences stick. My own pediatrician was a role model and I always loved working with kids, having been a camp counselor for seven summers.
Born and raised in Baltimore, I attended Johns Hopkins University and enrolled in a medical ethics course. I was assigned to work with the head of pediatric child neurology, the late John M. Freeman, and was inspired by the intellectual challenge coupled with the emotional valence of the work. This led to my first published paper, on quality of life for patients growing up with spina bifida, and a lasting interest in developmental neurobiology and pediatric neurology.
The son of a professional musician, I also attended Peabody Conservatory of Music, both as a preparatory student and then as an undergraduate in a combined Hopkins-Peabody curriculum. I am a jazz musician and play the piano, vibes, and drums, and my first CD, "Live at Jazzmatazz," debuted at the Blues Alley Jazz Club in Washington, D.C. and supported medical care for indigent children at the Children's Hospital there. I have enjoyed combining my interests in music and medicine, and have had the opportunity to lecture on the neurological problems of famous musicians in venues throughout the world.
My career in child neurology became focused on epilepsy based on experiences I had as a resident at Baylor College of Medicine in Houston and then fellow at Boston Children’s Hospital and Harvard Medical School. Challenging patients and a longstanding interest in biochemistry led me to a subspecialty interest in metabolic epilepsy, which has involved combining aspects of inborn errors of metabolism with childhood seizure disorders. It is not so different than combining passions for children and neurology into pediatric neurology, or music and medicine into studying the neurological problems of musical legends.
Born and raised in Baltimore, I attended Johns Hopkins University and enrolled in a medical ethics course. I was assigned to work with the head of pediatric child neurology, the late John M. Freeman, and was inspired by the intellectual challenge coupled with the emotional valence of the work. This led to my first published paper, on quality of life for patients growing up with spina bifida, and a lasting interest in developmental neurobiology and pediatric neurology.
The son of a professional musician, I also attended Peabody Conservatory of Music, both as a preparatory student and then as an undergraduate in a combined Hopkins-Peabody curriculum. I am a jazz musician and play the piano, vibes, and drums, and my first CD, "Live at Jazzmatazz," debuted at the Blues Alley Jazz Club in Washington, D.C. and supported medical care for indigent children at the Children's Hospital there. I have enjoyed combining my interests in music and medicine, and have had the opportunity to lecture on the neurological problems of famous musicians in venues throughout the world.
My career in child neurology became focused on epilepsy based on experiences I had as a resident at Baylor College of Medicine in Houston and then fellow at Boston Children’s Hospital and Harvard Medical School. Challenging patients and a longstanding interest in biochemistry led me to a subspecialty interest in metabolic epilepsy, which has involved combining aspects of inborn errors of metabolism with childhood seizure disorders. It is not so different than combining passions for children and neurology into pediatric neurology, or music and medicine into studying the neurological problems of musical legends.
Publications
Noninvasive classification of physiological and pathological high frequency oscillations in children. View Abstract
SUDEP in inherited metabolic epilepsies. View Abstract
Update on inherited disorders of GABA metabolism. View Abstract
Neuroimaging in Children With Inherited Metabolic Epilepsies. View Abstract
Epilepsy syndromes classification. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
Machine learning on interictal intracranial EEG predicts surgical outcome in drug resistant epilepsy. View Abstract
Spikes on ripples are better interictal biomarkers of epilepsy than spikes or ripples. View Abstract
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism. View Abstract
Inherited metabolic epilepsies-established diseases, new approaches. View Abstract
Creativity and its link to epilepsy. View Abstract
Editorial: Seizures in brain tumors. View Abstract
Overlap of spike and ripple propagation onset predicts surgical outcome in epilepsy. View Abstract
Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
In Search of a Common Language: The Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. View Abstract
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. View Abstract
Predictive factors for seizure freedom after epilepsy surgery for pediatric low-grade tumors and focal cortical dysplasia. View Abstract
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. View Abstract
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. View Abstract
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. View Abstract
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. View Abstract
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. View Abstract
The promise of personalized medicine in pediatric epilepsy - The time has come. View Abstract
Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency. View Abstract
Interictal EEG source connectivity to localize the epileptogenic zone in patients with drug-resistant epilepsy: A machine learning approach. View Abstract
Treatable inherited metabolic epilepsies. View Abstract
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. View Abstract
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. View Abstract
Deep Learning-Based Visual Complexity Analysis of Electroencephalography Time-Frequency Images: Can It Localize the Epileptogenic Zone in the Brain? View Abstract
Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS). View Abstract
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. View Abstract
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of ?-aminobutyric acid metabolism. View Abstract
Sleep Spindle Generation Before and After Epilepsy Surgery: A Source Imaging Study in Children with Drug-Resistant Epilepsy. View Abstract
Characterizing, classifying, and collecting spells in paroxysmal disorders - A need as targeted therapies approach for childhood neurological disorders. View Abstract
Eating disorders occur at high rates in adolescents with epilepsy and are associated with psychiatric comorbidities and suicidality. View Abstract
Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy. View Abstract
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. View Abstract
Comment: Amenable Treatable Severe Pediatric Epilepsies. View Abstract
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. View Abstract
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. View Abstract
Electromagnetic source imaging predicts surgical outcome in children with focal cortical dysplasia. View Abstract
Functional connectivity discriminates epileptogenic states and predicts surgical outcome in children with drug resistant epilepsy. View Abstract
Comparison of fMRI language laterality with and without sedation in pediatric epilepsy. View Abstract
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. View Abstract
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. View Abstract
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency. View Abstract
Non-invasive mapping of epileptogenic networks predicts surgical outcome. View Abstract
The presence and severity of epilepsy coincide with reduced ?-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency. View Abstract
Treatment of neurometabolic epilepsies: Overview and recent advances. View Abstract
New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. View Abstract
Fetal anomaly diagnosis and termination of pregnancy. View Abstract
Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. View Abstract
Stereoelectroencephalography followed by combined electrode removal and MRI-guided laser interstitial thermal therapy or open resection: a single-center series in pediatric patients with medically refractory epilepsy. View Abstract
Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease. View Abstract
Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome. View Abstract
Intelligent biomarker panel development for neurometabolic disease. View Abstract
Reply to "Added value of high-resolution electrical source imaging of ictal activity in children with structural focal epilepsy". View Abstract
Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. View Abstract
Virtual implantation using conventional scalp EEG delineates seizure onset and predicts surgical outcome in children with epilepsy. View Abstract
Autonomic risks in Alternating Hemiplegia of Childhood. View Abstract
Single-stage resection of bottom-of-a-sulcus dysplasia involving eloquent cortex using navigated transcranial magnetic stimulation and intraoperative modalities. View Abstract
Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. View Abstract
Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. View Abstract
Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol. View Abstract
Proceedings of the International SSADH Deficiency 2020 Conference. View Abstract
Novel Seizure Biomarkers in Continuous Electrocardiograms from Pediatric Epilepsy Patients. View Abstract
Mapping Propagation of Interictal Spikes, Ripples, and Fast Ripples in Intracranial EEG of Children with Refractory Epilepsy. View Abstract
Mapping Functional Connectivity of Epileptogenic Networks through Virtual Implantation. View Abstract
Electric Source Imaging on Intracranial EEG Localizes Spatiotemporal Propagation of Interictal Spikes in Children with Epilepsy. View Abstract
A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. View Abstract
Comparison of the real-world effectiveness of vertical versus lateral functional hemispherotomy techniques for pediatric drug-resistant epilepsy: A post hoc analysis of the HOPS study. View Abstract
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. View Abstract
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. View Abstract
Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. View Abstract
Changes in the Functional Brain Network of Children Undergoing Repeated Epilepsy Surgery: An EEG Source Connectivity Study. View Abstract
Remembrance of Things Past: A Critical Step in Changing our Future. View Abstract
Childhood-onset hereditary spastic paraplegia and its treatable mimics. View Abstract
Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification. View Abstract
Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. View Abstract
A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. View Abstract
Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. View Abstract
Presurgical accuracy of dipole clustering in MRI-negative pediatric patients with epilepsy: Validation against intracranial EEG and resection. View Abstract
Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. View Abstract
Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. View Abstract
Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. View Abstract
Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity. View Abstract
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. View Abstract
Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. View Abstract
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. View Abstract
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. View Abstract
Child neurology, COVID-19, and crisis in society. View Abstract
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. View Abstract
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. View Abstract
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. View Abstract
How the jazz medium can inform interprofessional health care teams in improving patient care. View Abstract
Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. View Abstract
Reply to Russo and Trabacca. View Abstract
Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature. View Abstract
EEG features of brain injury during extracorporeal membrane oxygenation in children. View Abstract
The President, Past President, Executive Director, and the Board of the Child Neurology Society Denounce Racism and Inequality. View Abstract
Management of Infantile Spasms During the COVID-19 Pandemic. View Abstract
Crisis Standard of Care: Management of Infantile Spasms during COVID-19. View Abstract
Epileptic Activity Intrinsically Generated in the Human Cerebellum. View Abstract
Practical Bioethics during the Exceptional Circumstances of a Pandemic. View Abstract
Mortality in infantile spasms: A hospital-based study. View Abstract
Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. View Abstract
Ictal and interictal source imaging on intracranial EEG predicts epilepsy surgery outcome in children with focal cortical dysplasia. View Abstract
Noninvasive Localization of High-Frequency Oscillations in Children with Epilepsy: Validation against Intracranial Gold-Standard. View Abstract
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. View Abstract
Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy. View Abstract
GABA Transaminase Deficiency With Survival Into Adulthood. View Abstract
Age-related phenotype and biomarker changes in SSADH deficiency. View Abstract
Non-invasive Seizure Localization with Ictal Single-Photon Emission Computed Tomography is Impacted by Preictal/Early Ictal Network Dynamics. View Abstract
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. View Abstract
Surgical resection of ripple onset predicts outcome in pediatric epilepsy. View Abstract
Magnetoencephalographic Mapping of Epileptic Spike Population Using Distributed Source Analysis: Comparison With Intracranial Electroencephalographic Spikes. View Abstract
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. View Abstract
GABA: no longer the faithful neurotransmitter. View Abstract
Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. View Abstract
Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? View Abstract
White matter spongiosis with vigabatrin therapy for infantile spasms. View Abstract
Seizure clustering during presurgical electroencephalographic monitoring in children. View Abstract
Epilepsy Syndromes in Childhood. View Abstract
Commonalities in epileptogenic processes from different acute brain insults: Do they translate? View Abstract
Response to clobazam in continuous spike-wave during sleep. View Abstract
Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. View Abstract
Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. View Abstract
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. View Abstract
Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy. View Abstract
Phenotype of GABA-transaminase deficiency. View Abstract
Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. View Abstract
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. View Abstract
Aberrant mTOR signaling and disrupted autophagy: The missing link in potential vigabatrin-associated ocular toxicity? View Abstract
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. View Abstract
Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. View Abstract
Time to electroencephalography is independently associated with outcome in critically ill neonates and children. View Abstract
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. View Abstract
Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. View Abstract
Texting Rhythm With Temporal Predominance. View Abstract
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. View Abstract
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. View Abstract
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. View Abstract
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. View Abstract
American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. View Abstract
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. View Abstract
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. View Abstract
Automated seizure detection systems and their effectiveness for each type of seizure. View Abstract
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. View Abstract
Real-time multi-channel monitoring of burst-suppression using neural network technology during pediatric status epilepticus treatment. View Abstract
SCN8A encephalopathy: Research progress and prospects. View Abstract
Amenable Treatable Severe Pediatric Epilepsies. View Abstract
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. View Abstract
SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. View Abstract
Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. View Abstract
From gene discovery to precision intervention in epilepsy: almost the end of the beginning. View Abstract
American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. View Abstract
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. View Abstract
Utility of initial EEG in first complex febrile seizure. View Abstract
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. View Abstract
Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. View Abstract
Gene sleuthing in pyridoxine-dependent epilepsy. View Abstract
The genetics of the epilepsies. View Abstract
Clinical Use of CSF Neurotransmitters. View Abstract
Neuroimaging features of Cornelia de Lange syndrome. View Abstract
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. View Abstract
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. View Abstract
Genetic forms of epilepsies and other paroxysmal disorders. View Abstract
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. View Abstract
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. View Abstract
Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. View Abstract
International telemedicine consultations for neurodevelopmental disabilities. View Abstract
Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. View Abstract
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. View Abstract
Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. View Abstract
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. View Abstract
Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. View Abstract
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. View Abstract
Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. View Abstract
Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. View Abstract
Metabolic causes of epileptic encephalopathy. View Abstract
Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. View Abstract
Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. View Abstract
Monoamine neurotransmitter deficiencies. View Abstract
Partial Pyridoxine Responsiveness in PNPO Deficiency. View Abstract
Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. View Abstract
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. View Abstract
Comment: Right-sizing adult neurology training for the child neurologist. View Abstract
Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. View Abstract
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. View Abstract
GABAB-ergic motor cortex dysfunction in SSADH deficiency. View Abstract
The effect of seizure focus on regional language processing areas. View Abstract
Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. View Abstract
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. View Abstract
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. View Abstract
Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. View Abstract
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. View Abstract
Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. View Abstract
Uveitis and white matter abnormalities in pediatric sarcoidosis. View Abstract
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. View Abstract
Neuropathology in succinic semialdehyde dehydrogenase deficiency. View Abstract
Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. View Abstract
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. View Abstract
Neurological problems of jazz legends. View Abstract
Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. View Abstract
Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. View Abstract
New treatment paradigms in neonatal metabolic epilepsies. View Abstract
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. View Abstract
Limitations to plasticity of language network reorganization in localization related epilepsy. View Abstract
Cerebral MRI abnormalities associated with vigabatrin therapy. View Abstract
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. View Abstract
A 2-year-old male with developmental delay, irritability, and failure to thrive. View Abstract
Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. View Abstract
Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. View Abstract
Infantile seizures: infants are not just little children. View Abstract
Ketogenic diet: stoking energy stores and still posing questions. View Abstract
Atypical language in lesional and nonlesional complex partial epilepsy. View Abstract
The pediatric neurotransmitter disorders. View Abstract
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. View Abstract
Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. View Abstract
Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. View Abstract
The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. View Abstract
Diagnosis and treatment of neurotransmitter disorders. View Abstract
Inherited disorders of GABA metabolism. View Abstract
Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. View Abstract
Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN. View Abstract
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. View Abstract
Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. View Abstract
Seizure focus affects regional language networks assessed by fMRI. View Abstract
Inherited disorders of neurotransmitters in children and adults. View Abstract
Use of complementary and alternative therapies in epilepsy: cause for concern. View Abstract
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. View Abstract
Pediatric sleep disorders. View Abstract
Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. View Abstract
Seizures and metabolic disease. View Abstract
fMRI language task panel improves determination of language dominance. View Abstract
Imaging data in autism: from structure to malfunction. View Abstract
22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. View Abstract
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. View Abstract
Clinical aspects of the disorders of GABA metabolism in children. View Abstract
Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. View Abstract
Pediatric neurotransmitter diseases. View Abstract
A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. View Abstract
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). View Abstract
Landau-Kleffner syndrome. View Abstract
Sleep problems, stimulants, and ADHD: true, true, unrelated? View Abstract
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. View Abstract
The neurobiology of autism: new pieces of the puzzle. View Abstract
Too much energy for rest. Sleep problems in children with ADHD. View Abstract
Magnetic resonance spectroscopy of neurotransmitters in human brain. View Abstract
Succinic semialdehyde dehydrogenase deficiency in children and adults. View Abstract
Murine succinate semialdehyde dehydrogenase deficiency. View Abstract
Language dominance in partial epilepsy patients identified with an fMRI reading task. View Abstract
Sawtooth wave density analysis during REM sleep in normal volunteers. View Abstract
Children, sleep, and behavior: a complex association. View Abstract
Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective study. View Abstract
Childhood sleep disorders: diagnostic and therapeutic approaches. View Abstract
Can stimulant rebound mimic pediatric bipolar disorder? View Abstract
The Landau-Kleffner Syndrome. View Abstract
Medical mimics. Medical and neurological conditions simulating ADHD. View Abstract
Neurologic course of congenital disorders of glycosylation. View Abstract
Stroke after zoster ophthalmicus in a 12-year-old girl with protein C deficiency. View Abstract
Pregnancy outcome in patients treated for Hodgkin's disease. View Abstract
Small bowel obstruction as a late complication of the treatment of Hodgkin's disease. View Abstract
Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic. View Abstract
Tamoxifen withdrawal response. Report of a case. View Abstract
Epithelioid granulomas revisited: long-term follow-up in Hodgkin's disease. View Abstract
Dementia, rigidity and seizures in an adolescent boy. View Abstract
Childhood stroke following intraoral trauma. View Abstract
Acute renal failure, hemolytic anemia, and thrombocytopenia in poststreptococcal glomerulonephritis. View Abstract
Ethiodized oil emulsion 13 in computed tomography of hepatoma. View Abstract
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