Phillip Pearl | Medical Services
Specialties
Programs & Services
Languages
- English
Phillip Pearl | 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
Phillip Pearl | 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)
Phillip Pearl | 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 210 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. 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 of Child Neurology and former President of the Child Neurology Society.
Phillip Pearl | Publications
Inherited metabolic epilepsies-established diseases, new approaches. Epilepsia Open. 2024 Dec 27. View Inherited metabolic epilepsies-established diseases, new approaches. Abstract
Creativity and its link to epilepsy. Epilepsia Open. 2024 Nov 26. View Creativity and its link to epilepsy. Abstract
Editorial: Seizures in brain tumors. Front Surg. 2024; 11:1504572. View Editorial: Seizures in brain tumors. Abstract
Overlap of spike and ripple propagation onset predicts surgical outcome in epilepsy. Ann Clin Transl Neurol. 2024 Oct; 11(10):2530-2547. View Overlap of spike and ripple propagation onset predicts surgical outcome in epilepsy. Abstract
Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society. Neurology. 2024 Sep 10; 103(5):e209746. View Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society. Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. Abstract
In Search of a Common Language: The Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2024 Jul 01; 41(5):405-409. View In Search of a Common Language: The Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. Abstract
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. Front Genet. 2024; 15:1405468. View Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis. Abstract
Predictive factors for seizure freedom after epilepsy surgery for pediatric low-grade tumors and focal cortical dysplasia. Epilepsy Behav Rep. 2024; 27:100680. View Predictive factors for seizure freedom after epilepsy surgery for pediatric low-grade tumors and focal cortical dysplasia. Abstract
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024 Jun; 11(6):1643-1647. View The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Abstract
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. J Neurodev Disord. 2024 Apr 24; 16(1):21. View Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. Abstract
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. Stem Cell Res. 2024 Jun; 77:103424. View Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. Abstract
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2024 05; 47(3):476-493. View Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. Abstract
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024 May; 142(1):108363. View Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Abstract
The promise of personalized medicine in pediatric epilepsy - The time has come. Eur J Paediatr Neurol. 2024 Jan; 48:A3. View The promise of personalized medicine in pediatric epilepsy - The time has come. Abstract
Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency. Clin Neurophysiol. 2024 May; 161:52-58. View Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency. Abstract
Interictal EEG source connectivity to localize the epileptogenic zone in patients with drug-resistant epilepsy: A machine learning approach. Epilepsia. 2024 Apr; 65(4):944-960. View Interictal EEG source connectivity to localize the epileptogenic zone in patients with drug-resistant epilepsy: A machine learning approach. Abstract
Treatable inherited metabolic epilepsies. Epilepsy Behav. 2024 Feb; 151:109621. View Treatable inherited metabolic epilepsies. Abstract
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. J Sleep Res. 2024 Aug; 33(4):e14105. View Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. Abstract
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386. View ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Abstract
Deep Learning-Based Visual Complexity Analysis of Electroencephalography Time-Frequency Images: Can It Localize the Epileptogenic Zone in the Brain? Algorithms. 2023 Dec; 16(12). View Deep Learning-Based Visual Complexity Analysis of Electroencephalography Time-Frequency Images: Can It Localize the Epileptogenic Zone in the Brain? Abstract
Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS). Epilepsia. 2024 Jan; 65(1):46-56. View Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS). Abstract
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Hum Genet. 2023 Dec; 142(12):1755-1776. View Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Abstract
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of ?-aminobutyric acid metabolism. Brain Commun. 2023; 5(6):fcad291. View Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of ?-aminobutyric acid metabolism. Abstract
Sleep Spindle Generation Before and After Epilepsy Surgery: A Source Imaging Study in Children with Drug-Resistant Epilepsy. Brain Topogr. 2024 01; 37(1):88-101. View Sleep Spindle Generation Before and After Epilepsy Surgery: A Source Imaging Study in Children with Drug-Resistant Epilepsy. Abstract
Characterizing, classifying, and collecting spells in paroxysmal disorders - A need as targeted therapies approach for childhood neurological disorders. Eur J Paediatr Neurol. 2023 Sep; 46:A2. View Characterizing, classifying, and collecting spells in paroxysmal disorders - A need as targeted therapies approach for childhood neurological disorders. Abstract
Eating disorders occur at high rates in adolescents with epilepsy and are associated with psychiatric comorbidities and suicidality. Epilepsia. 2023 11; 64(11):2982-2992. View Eating disorders occur at high rates in adolescents with epilepsy and are associated with psychiatric comorbidities and suicidality. Abstract
Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy. Brain. 2023 09 01; 146(9):3898-3912. View Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy. Abstract
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Mol Genet Metab. 2023 11; 140(3):107690. View Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Abstract
Comment: Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2023 10; 47:101073. View Comment: Amenable Treatable Severe Pediatric Epilepsies. Abstract
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. Res Sq. 2023 Jul 10. View Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants. 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. Mol Genet Metab. 2023 Aug; 139(4):107647. View Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Abstract
Electromagnetic source imaging predicts surgical outcome in children with focal cortical dysplasia. Clin Neurophysiol. 2023 09; 153:88-101. View Electromagnetic source imaging predicts surgical outcome in children with focal cortical dysplasia. Abstract
Functional connectivity discriminates epileptogenic states and predicts surgical outcome in children with drug resistant epilepsy. Sci Rep. 2023 06 14; 13(1):9622. View Functional connectivity discriminates epileptogenic states and predicts surgical outcome in children with drug resistant epilepsy. Abstract
Comparison of fMRI language laterality with and without sedation in pediatric epilepsy. Neuroimage Clin. 2023; 38:103448. View Comparison of fMRI language laterality with and without sedation in pediatric epilepsy. Abstract
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Mol Genet Metab. 2023 07; 139(3):107624. View Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Abstract
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2023 09; 46(5):992-1003. View Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. Abstract
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency. Dev Med Child Neurol. 2023 12; 65(12):1596-1606. View Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency. Abstract
Non-invasive mapping of epileptogenic networks predicts surgical outcome. Brain. 2023 05 02; 146(5):1916-1931. View Non-invasive mapping of epileptogenic networks predicts surgical outcome. Abstract
The presence and severity of epilepsy coincide with reduced ?-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency. Epilepsia. 2023 06; 64(6):1516-1526. View The presence and severity of epilepsy coincide with reduced ?-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency. Abstract
Treatment of neurometabolic epilepsies: Overview and recent advances. Epilepsy Behav. 2023 05; 142:109181. View Treatment of neurometabolic epilepsies: Overview and recent advances. Abstract
New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Neurology. 2023 07 18; 101(3):124-133. View New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Abstract
Fetal anomaly diagnosis and termination of pregnancy. Dev Med Child Neurol. 2023 07; 65(7):900-907. View Fetal anomaly diagnosis and termination of pregnancy. Abstract
Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. Seizure. 2023 Mar; 106:58-67. View Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. 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. J Neurosurg Pediatr. 2023 03 01; 31(3):206-211. View 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. Abstract
Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease. Neurology. 2022 Dec 05; 99(23):1025-1026. View Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease. Abstract
Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome. Neurosurgery. 2022 10 01; 91(4):583-589. View Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome. Abstract
Intelligent biomarker panel development for neurometabolic disease. Dev Med Child Neurol. 2022 12; 64(12):1441-1442. View Intelligent biomarker panel development for neurometabolic disease. Abstract
Reply to "Added value of high-resolution electrical source imaging of ictal activity in children with structural focal epilepsy". Clin Neurophysiol. 2022 08; 140:254-255. View Reply to "Added value of high-resolution electrical source imaging of ictal activity in children with structural focal epilepsy". Abstract
Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. Eur J Paediatr Neurol. 2022 07; 39:A3. View Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies. Abstract
Virtual implantation using conventional scalp EEG delineates seizure onset and predicts surgical outcome in children with epilepsy. Clin Neurophysiol. 2022 07; 139:49-57. View Virtual implantation using conventional scalp EEG delineates seizure onset and predicts surgical outcome in children with epilepsy. Abstract
Autonomic risks in Alternating Hemiplegia of Childhood. Eur J Paediatr Neurol. 2022 05; 38:A3. View Autonomic risks in Alternating Hemiplegia of Childhood. Abstract
Single-stage resection of bottom-of-a-sulcus dysplasia involving eloquent cortex using navigated transcranial magnetic stimulation and intraoperative modalities. Childs Nerv Syst. 2022 07; 38(7):1365-1370. View Single-stage resection of bottom-of-a-sulcus dysplasia involving eloquent cortex using navigated transcranial magnetic stimulation and intraoperative modalities. Abstract
Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. Diagnostics (Basel). 2022 Apr 18; 12(4). View Novel User-Friendly Application for MRI Segmentation of Brain Resection following Epilepsy Surgery. Abstract
Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Int J Mol Sci. 2022 Feb 26; 23(5). View Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Abstract
Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol. J Child Neurol. 2022 01; 37(1):5-11. View Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol. Abstract
Proceedings of the International SSADH Deficiency 2020 Conference. J Child Neurol. 2021 11; 36(13-14):1151-1152. View Proceedings of the International SSADH Deficiency 2020 Conference. Abstract
Novel Seizure Biomarkers in Continuous Electrocardiograms from Pediatric Epilepsy Patients. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:382-385. View Novel Seizure Biomarkers in Continuous Electrocardiograms from Pediatric Epilepsy Patients. Abstract
Mapping Propagation of Interictal Spikes, Ripples, and Fast Ripples in Intracranial EEG of Children with Refractory Epilepsy. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:194-197. View Mapping Propagation of Interictal Spikes, Ripples, and Fast Ripples in Intracranial EEG of Children with Refractory Epilepsy. Abstract
Mapping Functional Connectivity of Epileptogenic Networks through Virtual Implantation. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:408-411. View Mapping Functional Connectivity of Epileptogenic Networks through Virtual Implantation. Abstract
Electric Source Imaging on Intracranial EEG Localizes Spatiotemporal Propagation of Interictal Spikes in Children with Epilepsy. Annu Int Conf IEEE Eng Med Biol Soc. 2021 11; 2021:2668-2671. View Electric Source Imaging on Intracranial EEG Localizes Spatiotemporal Propagation of Interictal Spikes in Children with Epilepsy. Abstract
A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. J Clin Neurophysiol. 2021 Nov 01; 38(6):509-515. View A Standardized Electrode Nomenclature for Stereoelectroencephalography Applications. 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. Epilepsia. 2021 11; 62(11):2707-2718. View 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. Abstract
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. J Child Neurol. 2021 11; 36(13-14):1223-1230. View Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. Abstract
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021 09 07; 13(9):e14712. View Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. Abstract
Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. Ann Neurol. 2021 10; 90(4):537-538. View Introducing the Child Neurology Society Leadership, Diversity, Equity, and Inclusion Task Force. Abstract
Changes in the Functional Brain Network of Children Undergoing Repeated Epilepsy Surgery: An EEG Source Connectivity Study. Diagnostics (Basel). 2021 Jul 09; 11(7). View Changes in the Functional Brain Network of Children Undergoing Repeated Epilepsy Surgery: An EEG Source Connectivity Study. Abstract
Remembrance of Things Past: A Critical Step in Changing our Future. Ann Neurol. 2021 10; 90(4):521-523. View Remembrance of Things Past: A Critical Step in Changing our Future. Abstract
Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec; 137(4):436-444. View Childhood-onset hereditary spastic paraplegia and its treatable mimics. Abstract
Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification. J Clin Neurophysiol. 2023 Feb 01; 40(2):130-135. View Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification. Abstract
Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. J Child Neurol. 2021 11; 36(13-14):1169-1176. View Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. Abstract
A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1189-1199. View A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. Abstract
Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. Clin Neurophysiol. 2021 07; 132(7):1622-1635. View Source imaging of seizure onset predicts surgical outcome in pediatric epilepsy. Abstract
Presurgical accuracy of dipole clustering in MRI-negative pediatric patients with epilepsy: Validation against intracranial EEG and resection. Clin Neurophysiol. 2022 09; 141:126-138. View Presurgical accuracy of dipole clustering in MRI-negative pediatric patients with epilepsy: Validation against intracranial EEG and resection. Abstract
Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. Ann Neurol. 2021 05; 89(5):911-925. View Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery. Abstract
Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. J Child Neurol. 2021 11; 36(13-14):1210-1217. View Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. Abstract
Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. Epilepsia. 2021 05; 62(5):1064-1073. View Hemispherectomy Outcome Prediction Scale: Development and validation of a seizure freedom prediction tool. Abstract
Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity. J Child Neurol. 2021 11; 36(13-14):1200-1209. View Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity. Abstract
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1162-1168. View Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. Abstract
Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. J Child Neurol. 2021 06; 36(7):575-582. View Hippocampal Involvement With Vigabatrin-Related MRI Signal Abnormalities in Patients With Infantile Spasms: A Novel Finding. Abstract
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021 11; 36(13-14):1153-1161. View Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. Abstract
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 01; 44(1):178-192. View Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. Abstract
Child neurology, COVID-19, and crisis in society. Dev Med Child Neurol. 2020 10; 62(10):1113. View Child neurology, COVID-19, and crisis in society. Abstract
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Orphanet J Rare Dis. 2020 09 23; 15(1):261. View Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Abstract
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 11 10; 95(19):e2675-e2682. View Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Abstract
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes (Basel). 2020 09 02; 11(9). View A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Abstract
How the jazz medium can inform interprofessional health care teams in improving patient care. Med Teach. 2020 12; 42(12):1337-1342. View How the jazz medium can inform interprofessional health care teams in improving patient care. Abstract
Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. Neurol Clin Pract. 2020 Aug; 10(4):356-361. View Pediatric and adult neurologist perspectives on the challenges of sustaining a transfer clinic. Abstract
Reply to Russo and Trabacca. Pediatr Neurol. 2020 11; 112:1. View Reply to Russo and Trabacca. Abstract
Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature. World Neurosurg. 2020 10; 142:450-455. View Corpus Callosotomy for Refractory Epilepsy in Aicardi Syndrome: Case Report and Focused Review of the Literature. Abstract
EEG features of brain injury during extracorporeal membrane oxygenation in children. Neurology. 2020 09 08; 95(10):e1372-e1380. View EEG features of brain injury during extracorporeal membrane oxygenation in children. Abstract
The President, Past President, Executive Director, and the Board of the Child Neurology Society Denounce Racism and Inequality. Ann Neurol. 2020 08; 88(2):209-210. View The President, Past President, Executive Director, and the Board of the Child Neurology Society Denounce Racism and Inequality. Abstract
Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol. 2020 10; 35(12):828-834. View Management of Infantile Spasms During the COVID-19 Pandemic. Abstract
Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217. View Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Abstract
Epileptic Activity Intrinsically Generated in the Human Cerebellum. Ann Neurol. 2020 08; 88(2):418-422. View Epileptic Activity Intrinsically Generated in the Human Cerebellum. Abstract
Practical Bioethics during the Exceptional Circumstances of a Pandemic. Pediatr Neurol. 2020 07; 108:3-4. View Practical Bioethics during the Exceptional Circumstances of a Pandemic. Abstract
Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View Mortality in infantile spasms: A hospital-based study. Abstract
Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. Ann Clin Transl Neurol. 2020 03; 7(3):329-342. View Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery. Abstract
Ictal and interictal source imaging on intracranial EEG predicts epilepsy surgery outcome in children with focal cortical dysplasia. Clin Neurophysiol. 2020 03; 131(3):734-743. View Ictal and interictal source imaging on intracranial EEG predicts epilepsy surgery outcome in children with focal cortical dysplasia. Abstract
Noninvasive Localization of High-Frequency Oscillations in Children with Epilepsy: Validation against Intracranial Gold-Standard. Annu Int Conf IEEE Eng Med Biol Soc. 2019 Jul; 2019:1555-1558. View Noninvasive Localization of High-Frequency Oscillations in Children with Epilepsy: Validation against Intracranial Gold-Standard. Abstract
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Mol Genet Genomic Med. 2019 05; 7(5):e629. View Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Abstract
Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy. Clin Neurophysiol. 2019 04; 130(4):491-504. View Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy. Abstract
GABA Transaminase Deficiency With Survival Into Adulthood. J Child Neurol. 2019 03; 34(4):216-220. View GABA Transaminase Deficiency With Survival Into Adulthood. Abstract
Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019 01; 6(1):114-120. View Age-related phenotype and biomarker changes in SSADH deficiency. Abstract
Non-invasive Seizure Localization with Ictal Single-Photon Emission Computed Tomography is Impacted by Preictal/Early Ictal Network Dynamics. IEEE Trans Biomed Eng. 2018 Nov 09. View Non-invasive Seizure Localization with Ictal Single-Photon Emission Computed Tomography is Impacted by Preictal/Early Ictal Network Dynamics. Abstract
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 10 04; 103(4):631. View A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Abstract
Surgical resection of ripple onset predicts outcome in pediatric epilepsy. Ann Neurol. 2018 09; 84(3):331-346. View Surgical resection of ripple onset predicts outcome in pediatric epilepsy. Abstract
Magnetoencephalographic Mapping of Epileptic Spike Population Using Distributed Source Analysis: Comparison With Intracranial Electroencephalographic Spikes. J Clin Neurophysiol. 2018 Jul; 35(4):339-345. View Magnetoencephalographic Mapping of Epileptic Spike Population Using Distributed Source Analysis: Comparison With Intracranial Electroencephalographic Spikes. Abstract
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007. View A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Abstract
GABA: no longer the faithful neurotransmitter. Dev Med Child Neurol. 2018 08; 60(8):734. View GABA: no longer the faithful neurotransmitter. Abstract
Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. Abstract
Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Pediatr Neurol. 2018 06; 83:25-31. View Magnetoencephalographic Spike Analysis in Patients With Focal Cortical Dysplasia: What Defines a "Dipole Cluster"? Abstract
White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. View White matter spongiosis with vigabatrin therapy for infantile spasms. Abstract
Seizure clustering during presurgical electroencephalographic monitoring in children. Epilepsy Behav. 2018 03; 80:291-295. View Seizure clustering during presurgical electroencephalographic monitoring in children. Abstract
Epilepsy Syndromes in Childhood. Continuum (Minneap Minn). 2018 02; 24(1, Child Neurology):186-209. View Epilepsy Syndromes in Childhood. Abstract
Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Epilepsia. 2018 01; 59(1):37-66. View Commonalities in epileptogenic processes from different acute brain insults: Do they translate? Abstract
Response to clobazam in continuous spike-wave during sleep. Dev Med Child Neurol. 2018 03; 60(3):283-289. View Response to clobazam in continuous spike-wave during sleep. Abstract
Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. J Clin Neurophysiol. 2017 Sep; 34(5):421-426. View Continuous EEG in Pediatric Critical Care: Yield and Efficiency of Seizure Detection. Abstract
Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. J Child Neurol. 2017 Sep; 32(10):880-885. View Electrographic Seizures in Preterm Neonates in the Neonatal Intensive Care Unit. Abstract
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Abstract
Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy. J Child Neurol. 2017 07; 32(8):774-788. View Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy. Abstract
Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View Phenotype of GABA-transaminase deficiency. Abstract
Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. View Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Abstract
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2017; 36:93-98. View Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. Abstract
Aberrant mTOR signaling and disrupted autophagy: The missing link in potential vigabatrin-associated ocular toxicity? Clin Pharmacol Ther. 2017 04; 101(4):458-461. View Aberrant mTOR signaling and disrupted autophagy: The missing link in potential vigabatrin-associated ocular toxicity? Abstract
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia. 2017 03; 58(3):436-445. View Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Abstract
Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Front Neurol. 2017; 8:14. View Current and Emerging Potential of Magnetoencephalography in the Detection and Localization of High-Frequency Oscillations in Epilepsy. Abstract
Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Epilepsia. 2017 03; 58(3):420-428. View Time to electroencephalography is independently associated with outcome in critically ill neonates and children. Abstract
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017 01 18; 12(1):12. View Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Abstract
Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. J Vis Exp. 2016 12 06; (118). View Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy. Abstract
Texting Rhythm With Temporal Predominance. J Clin Neurophysiol. 2016 Dec; 33(6):570. View Texting Rhythm With Temporal Predominance. 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. Epilepsy Res. 2017 01; 129:59-66. View 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. Abstract
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017; 34:111-115. View Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. Abstract
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. J Inherit Metab Dis. 2016 11; 39(6):795-800. View Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. Abstract
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016 Oct; 2(5):e96. View KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. Abstract
American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. J Clin Neurophysiol. 2016 Aug; 33(4):320-3. View American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Abstract
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Abstract
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. JIMD Rep. 2016; 30:81-87. View Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. Abstract
Automated seizure detection systems and their effectiveness for each type of seizure. Seizure. 2016 Aug; 40:88-101. View Automated seizure detection systems and their effectiveness for each type of seizure. Abstract
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Neurochem Int. 2016 10; 99:72-84. View Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Abstract
Real-time multi-channel monitoring of burst-suppression using neural network technology during pediatric status epilepticus treatment. Clin Neurophysiol. 2016 08; 127(8):2820-2831. View Real-time multi-channel monitoring of burst-suppression using neural network technology during pediatric status epilepticus treatment. Abstract
SCN8A encephalopathy: Research progress and prospects. Epilepsia. 2016 07; 57(7):1027-35. View SCN8A encephalopathy: Research progress and prospects. Abstract
Amenable Treatable Severe Pediatric Epilepsies. Semin Pediatr Neurol. 2016 05; 23(2):158-66. View Amenable Treatable Severe Pediatric Epilepsies. Abstract
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. Abstract
SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. Abstract
Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016 06; 31(7):938-41. View Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. Abstract
From gene discovery to precision intervention in epilepsy: almost the end of the beginning. Dev Med Child Neurol. 2016 Apr; 58(4):330-1. View From gene discovery to precision intervention in epilepsy: almost the end of the beginning. Abstract
American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Neurodiagn J. 2016; 56(4):266-275. View American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography. Abstract
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016 05; 58:113-5. View Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Abstract
Utility of initial EEG in first complex febrile seizure. Epilepsy Behav. 2015 Nov; 52(Pt A):200-4. View Utility of initial EEG in first complex febrile seizure. Abstract
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015 Sep 08; 85(10):861-5. View Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Abstract
Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Curr Neurol Neurosci Rep. 2015 Aug; 15(8):51. View Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Abstract
Gene sleuthing in pyridoxine-dependent epilepsy. Neurology. 2015 Sep 01; 85(9):748-9. View Gene sleuthing in pyridoxine-dependent epilepsy. Abstract
The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View The genetics of the epilepsies. Abstract
Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View Clinical Use of CSF Neurotransmitters. Abstract
Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol. 2015 Jul; 45(8):1198-205. View Neuroimaging features of Cornelia de Lange syndrome. Abstract
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Dev Med Child Neurol. 2015 Jul; 57(7):611-617. View Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Abstract
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. View Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. Abstract
Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View Genetic forms of epilepsies and other paroxysmal disorders. Abstract
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014 Sep; 29(9):1249-56. View Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. Abstract
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:23-7. View Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. Abstract
Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatr Neurol. 2014 Sep; 51(3):344-7. View Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Abstract
International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health. 2014 Jun; 20(6):559-62. View International telemedicine consultations for neurodevelopmental disabilities. Abstract
Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 2014 Apr 22; 82(16):1392-4. View Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Abstract
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 2014 Mar 18; 82(11):940-4. View Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Abstract
Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. JIMD Rep. 2014; 17:97. View Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis. Abstract
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. View Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Abstract
Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol. 2014 May; 18(3):249-56. View Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Abstract
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. View Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Abstract
Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia. 2013 Sep; 54(9):e135-7. View Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Abstract
Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):196. View Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Abstract
Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat. 2013; 2013:124934. View Metabolic causes of epileptic encephalopathy. Abstract
Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Mol Genet Metab. 2013 Jul; 109(3):255-9. View Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Abstract
Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia. 2013 Jun; 54(6):1074-82. View Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Abstract
Monoamine neurotransmitter deficiencies. Handb Clin Neurol. 2013; 113:1819-25. View Monoamine neurotransmitter deficiencies. Abstract
Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep. 2013; 9:139-142. View Partial Pyridoxine Responsiveness in PNPO Deficiency. Abstract
Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Arch Neurol. 2012 Oct; 69(10):1290-5. View Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Abstract
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2013; 8:133-7. View Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. Abstract
Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 2012 Aug 21; 79(8):819. View Comment: Right-sizing adult neurology training for the child neurologist. Abstract
Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy Behav. 2012 Aug; 24(4):457-61. View Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Abstract
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J Inherit Metab Dis. 2013 May; 36(3):401-10. View Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Abstract
GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology. 2012 Jul 03; 79(1):47-54. View GABAB-ergic motor cortex dysfunction in SSADH deficiency. Abstract
The effect of seizure focus on regional language processing areas. Epilepsia. 2012 Jun; 53(6):1044-50. View The effect of seizure focus on regional language processing areas. Abstract
Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Semin Pediatr Neurol. 2011 Sep; 18(3):203-8. View Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Abstract
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev. 2011 Oct; 33(9):796-805. View Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Abstract
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011 May; 68(5):665-71. View Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Abstract
Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. Biochem Mol Biol Educ. 2011 May-Jun; 39(3):191-5. View Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. Abstract
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal. 2011 Aug 01; 15(3):691-718. View Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Abstract
Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Pediatr Neurol. 2011 Jan; 44(1):1-9. View Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Abstract
Uveitis and white matter abnormalities in pediatric sarcoidosis. Arch Neurol. 2010 Jul; 67(7):890-1. View Uveitis and white matter abnormalities in pediatric sarcoidosis. Abstract
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. J Child Neurol. 2010 Dec; 25(12):1457-61. View Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. Abstract
Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010 Apr; 42(4):255-8. View Neuropathology in succinic semialdehyde dehydrogenase deficiency. Abstract
Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep. 2009 Dec; 32(12):1645-8. View Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Abstract
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 2009 Aug 11; 73(6):423-9. View Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Abstract
Neurological problems of jazz legends. J Child Neurol. 2009 Aug; 24(8):1037-42. View Neurological problems of jazz legends. Abstract
Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Neurology. 2009 May 26; 72(21):1830-6. View Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Abstract
Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology. 2009 Mar 24; 72(12):e56. View Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Abstract
New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis. 2009 Apr; 32(2):204-13. View New treatment paradigms in neonatal metabolic epilepsies. Abstract
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009 Jun; 32(3):343-52. View Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. Abstract
Limitations to plasticity of language network reorganization in localization related epilepsy. Brain. 2009 Feb; 132(Pt 2):347-56. View Limitations to plasticity of language network reorganization in localization related epilepsy. Abstract
Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009 Feb; 50(2):184-94. View Cerebral MRI abnormalities associated with vigabatrin therapy. Abstract
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008 Jul; 13(7):598-605. View Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. Abstract
A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatr Ann. 2008 Jul; 37(7):459-60, 463. View A 2-year-old male with developmental delay, irritability, and failure to thrive. Abstract
Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy Behav. 2008 Jul; 13(1):109-14. View Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Abstract
Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatr Neurol. 2008 Apr; 38(4):248-51. View Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Abstract
Infantile seizures: infants are not just little children. Curr Neurol Neurosci Rep. 2008 Mar; 8(2):139-44. View Infantile seizures: infants are not just little children. Abstract
Ketogenic diet: stoking energy stores and still posing questions. Exp Neurol. 2008 May; 211(1):11-3. View Ketogenic diet: stoking energy stores and still posing questions. Abstract
Atypical language in lesional and nonlesional complex partial epilepsy. Neurology. 2007 Oct 30; 69(18):1761-71. View Atypical language in lesional and nonlesional complex partial epilepsy. Abstract
The pediatric neurotransmitter disorders. J Child Neurol. 2007 May; 22(5):606-16. View The pediatric neurotransmitter disorders. 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. J Inherit Metab Dis. 2007 Jun; 30(3):279-94. View 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. Abstract
Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology. 2007 Feb 27; 68(9):655-9. View Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Abstract
Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; 30(1):2-4. View Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. Abstract
The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Epilepsy Behav. 2007 Feb; 10(1):170-8. View The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Abstract
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Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2006 Feb; 29(1):143-56. View Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. Abstract
Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry. 2005 Dec; 10(12):1059-61. View Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Abstract
Seizure focus affects regional language networks assessed by fMRI. Neurology. 2005 Nov 22; 65(10):1604-11. View Seizure focus affects regional language networks assessed by fMRI. Abstract
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Use of complementary and alternative therapies in epilepsy: cause for concern. Arch Neurol. 2005 Sep; 62(9):1472-5. View Use of complementary and alternative therapies in epilepsy: cause for concern. Abstract
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life. 2005 Sep; 57(9):639-44. View Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. Abstract
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fMRI language task panel improves determination of language dominance. Neurology. 2004 Oct 26; 63(8):1403-8. View fMRI language task panel improves determination of language dominance. Abstract
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Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol. 2004 Apr; 55(4):599; author reply 599. View Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Abstract
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