Annapurna Poduri, MD, MPH
Neurologist, Department of Neurology
Professor of Neurology, Harvard Medical School
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Annapurna Poduri, MD, MPH
Neurologist, Department of Neurology
Professor of Neurology, Harvard Medical School
Medical Services
Languages
English
French
Education
Undergraduate School
Harvard University
1994
Cambridge
MA
Medical School
University of Pennsylvania School of Medicine
1998
Philadelphia
PA
Internship
Pediatrics
Boston Combined Residency Program (BCRP)
1999
Boston
MA
Residency
Pediatrics
Boston Combined Residency Program (BCRP)
2000
Boston
MA
Residency
Child Neurology
Children's Hospital of Philadelphia
2003
Philadelphia
PA
Fellowship
Clinical Electrophysiology
Boston Children's Hospital
2004
Boston
MA
Fellowship
Neurogenetics
Boston Children's Hospital
2005
Boston
MA
Graduate School
Harvard School of Public Health
2007
Boston
MA
Media
Hope in the midst of epilepsy: The work of Boston Children's Annapurna Poduri
Diving deep on epilepsy genetics with Dr. Annapurna Poduri
Certifications
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
American Board of Psychiatry and Neurology (Clinical Neurophysiology)
American Board of Psychiatry and Neurology
Professional History
A physician-scientist focusing on epilepsy genetics, Dr. Poduri unifies neuroscience and genetics research, clinical child neurology, and education and mentoring activities into a translational approach to neurogenetics. In concert with diverse teams and a broad network of collaborators, she brings important clinical questions to the research arena and research findings back to children with neurological disorders to improve outcomes while training the next generation of physicians and scientists.
In 2011, Dr. Poduri launched the BCH Epilepsy Genetics Program, the first such program in the US, with Beth Sheidley, MS, CGC. Dr. Poduri also co-directed the BCH Neurogenetics Program, served as Associate Chief for Academic Development in Neurology, and held the Diamond-Blackfan Chair in Neuroscience Research. She has served on several boards and committees, including with the American Epilepsy Society and the International League Against Epilepsy. In 2024, Dr. Poduri was recruited to the National Institutes of Health to serve as Deputy Director of the National Institute of Neurological Disorders and Stroke. In 2025, she returned to BCH, where she serves as Associate Director of the Translational Research Program Translational Investigator Service and Investigator in the F.M. Kirby Neurobiology Center and in Robert’s Program on Sudden Unexpected Death in Pediatrics.
Approach to Care
am committed to bringing impactful science to the practice of medicine, specifically to diagnosing, understanding, and treating genetic forms of epilepsy and neurodevelopmental disorders. I believe that every individual with a neurological condition deserves a compassionate and scientific approach to care, addressing both short-term needs and long-term goals. We have a unique opportunity at Boston Children's Hospital to integrate research into the care of our patients--bringing the cutting edge of child neurology to our patients. While we strive to achieve the best outcomes for our patients here at BCH, we also have the opportunity to create a model that can be used across the region and nationally.
Publications
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Genome Sequencing After Exome Sequencing in Pediatric Epilepsy. View Abstract
Frontal Lobe Epilepsy: Bermuda's Triangle. View Abstract
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. View Abstract
N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward. View Abstract
Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy. View Abstract
Machine learning enables high-throughput, low-replicate screening for novel anti-seizure targets and compounds using combined movement and calcium fluorescence in larval zebrafish. View Abstract
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
Response to Horta et al. View Abstract
Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. View Abstract
Cerebral Palsy Phenotypes in Genetic Epilepsies. View Abstract
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. View Abstract
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. View Abstract
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. View Abstract
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. View Abstract
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism. View Abstract
Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. View Abstract
Seizures and Sudden Death Beyond SUDEP. View Abstract
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. View Abstract
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. View Abstract
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. View Abstract
Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy. View Abstract
Clinical and functional consequences of GRIA variants in patients with neurological diseases. View Abstract
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. View Abstract
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. View Abstract
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. View Abstract
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. View Abstract
Toward representative genomic research: the children's rare disease cohorts experience. View Abstract
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. View Abstract
The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. View Abstract
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. View Abstract
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy. View Abstract
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies. View Abstract
Brain somatic mosaicism in epilepsy: Bringing results back to the clinic. View Abstract
Global neurology: It's time to take notice. View Abstract
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. View Abstract
Re: Technical Report for Updated 2022 Recommendations for Reducing Infant Deaths in the Sleep Environment. View Abstract
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. View Abstract
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. View Abstract
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. View Abstract
Current practice in diagnostic genetic testing of the epilepsies View Abstract
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. View Abstract
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. View Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. View Abstract
Underrepresentation of the term cerebral palsy in clinical genetics databases. View Abstract
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. View Abstract
Child Neurology: Initial Presentation of PCDH19-Related Epilepsy With New-Onset Refractory Status Epilepticus and Treatment With Anakinra. View Abstract
Assessing the landscape of STXBP1-related disorders in 534 individuals. View Abstract
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish. View Abstract
Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability. View Abstract
Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long-term treatment response. View Abstract
PIGN encephalopathy: Characterizing the epileptology. View Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. View Abstract
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. View Abstract
Genetic Determinants of Sudden Unexpected Death in Pediatrics. View Abstract
Genetic testing for the epilepsies: A systematic review. View Abstract
Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet syndrome and recurrent status epilepticus. View Abstract
Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. View Abstract
Precision Therapy for Epilepsy Related to Brain Malformations. View Abstract
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. View Abstract
The 2021 Epilepsy Research Benchmarks-Respecting Core Principles, Reflecting Evolving Community Priorities. View Abstract
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. View Abstract
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. View Abstract
KCNQ2-DEE: developmental or epileptic encephalopathy? View Abstract
Genetic Factors Underlying Sudden Infant Death Syndrome. View Abstract
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. View Abstract
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. View Abstract
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. View Abstract
Characterization of the GABRB2-Associated Neurodevelopmental Disorders. View Abstract
Polymicrogyria is Associated With Pathogenic Variants in PTEN. View Abstract
Gene tests in adults with epilepsy and intellectual disability. View Abstract
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. View Abstract
A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. View Abstract
Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. View Abstract
Experiencing Positive Health, as a Family, While Living With a Rare Complex Disease: Bringing Participatory Medicine Through Collaborative Decision Making Into the Real World. View Abstract
The role of sodium channels in sudden unexpected death in pediatrics. View Abstract
Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force. View Abstract
Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab. View Abstract
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. View Abstract
Mortality in infantile spasms: A hospital-based study. View Abstract
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. View Abstract
Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span. View Abstract
Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions. View Abstract
Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects. View Abstract
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. View Abstract
Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression. View Abstract
The Benchmarks: Progress and Emerging Priorities in Epilepsy Research. View Abstract
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. View Abstract
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. View Abstract
Duplication 2p16 is associated with perisylvian polymicrogyria. View Abstract
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. View Abstract
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. View Abstract
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. View Abstract
Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. View Abstract
Correction: The landscape of epilepsy-related GATOR1 variants. View Abstract
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments. View Abstract
Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. View Abstract
Correction to: The landscape of epilepsy-related GATOR1 variants. View Abstract
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. View Abstract
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. View Abstract
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. View Abstract
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. View Abstract
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. View Abstract
Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study. View Abstract
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. View Abstract
High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology. View Abstract
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. View Abstract
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. View Abstract
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. View Abstract
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. View Abstract
An Open-Source Husbandry Repository. View Abstract
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. View Abstract
Return of individual results in epilepsy genomic research: A view from the field. View Abstract
The landscape of epilepsy-related GATOR1 variants. View Abstract
Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies. View Abstract
De novo variants in neurodevelopmental disorders with epilepsy. View Abstract
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. View Abstract
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. View Abstract
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. View Abstract
Clinical Application of Epilepsy Genetics in Africa: Is Now the Time? View Abstract
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. View Abstract
HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion. View Abstract
SCN1A variants associated with sudden infant death syndrome. View Abstract
Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. View Abstract
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. View Abstract
White matter spongiosis with vigabatrin therapy for infantile spasms. View Abstract
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. View Abstract
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. View Abstract
Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies. View Abstract
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. View Abstract
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. View Abstract
A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. View Abstract
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. View Abstract
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. View Abstract
A randomized controlled trial of levodopa in patients with Angelman syndrome. View Abstract
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. View Abstract
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. View Abstract
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. View Abstract
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. View Abstract
A Model Program for Translational Medicine in Epilepsy Genetics. View Abstract
When Should Genetic Testing Be Performed in Epilepsy Patients? View Abstract
Tracking the Fate of Cells in Health and Disease. View Abstract
De novo GABRG2 mutations associated with epileptic encephalopathies. View Abstract
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. View Abstract
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. View Abstract
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. View Abstract
Correction: Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. View Abstract
Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. View Abstract
The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition. View Abstract
Effectiveness of once-daily high-dose ACTH for infantile spasms. View Abstract
Comments from the Editor(s). View Abstract
Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. View Abstract
Disorders of Microtubule Function in Neurons: Imaging Correlates. View Abstract
The Expanding SCN8A-Related Epilepsy Phenotype. View Abstract
Comparison of Drug Utilization Patterns in Observational Data: Antiepileptic Drugs in Pediatric Patients. View Abstract
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. View Abstract
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. View Abstract
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. View Abstract
Juvenile myoclonic epilepsy and narcolepsy: A series of three cases. View Abstract
The genetics of the epilepsies. View Abstract
Mutations in KCNT1 cause a spectrum of focal epilepsies. View Abstract
Megalencephaly and Macrocephaly. View Abstract
Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy. View Abstract
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. View Abstract
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. View Abstract
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. View Abstract
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. View Abstract
HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy. View Abstract
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. View Abstract
Genetic forms of epilepsies and other paroxysmal disorders. View Abstract
A channel for precision diagnosis and treatment in genetic epilepsy. View Abstract
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. View Abstract
Somatic mutations in cerebral cortical malformations. View Abstract
Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. View Abstract
Copy number variation plays an important role in clinical epilepsy. View Abstract
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. View Abstract
Surgery for intractable epilepsy due to unilateral brain disease: a retrospective study comparing hemispherectomy techniques. View Abstract
DEPDC5 does it all: shared genetics for diverse epilepsy syndromes. View Abstract
Genetic testing in the epilepsies-developments and dilemmas. View Abstract
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. View Abstract
Rasmussen's encephalitis presenting as focal cortical dysplasia. View Abstract
Clobazam: effect on frequency of seizures and safety profile in different subgroups of children with epilepsy. View Abstract
Reply: To PMID 24243345. View Abstract
SLC25A22 is a novel gene for migrating partial seizures in infancy. View Abstract
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. View Abstract
Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. View Abstract
Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis. View Abstract
De novo mutations in epileptic encephalopathies. View Abstract
Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report. View Abstract
Somatic mutation, genomic variation, and neurological disease. View Abstract
The epilepsy phenome/genome project. View Abstract
Electrode localization for planning surgical resection of the epileptogenic zone in pediatric epilepsy. View Abstract
Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project. View Abstract
Perfusion Imaging of Focal Cortical Dysplasia Using Arterial Spin Labeling: Correlation With Histopathological Vascular Density. View Abstract
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. View Abstract
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. View Abstract
Focal cortical dysplasia is more common in boys than in girls. View Abstract
Using whole-exome sequencing to identify inherited causes of autism. View Abstract
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. View Abstract
Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. View Abstract
Hippocampal asymmetry and sudden unexpected death in infancy: a case report. View Abstract
Dacrystic seizures: demographic, semiologic, and etiologic insights from a multicenter study in long-term video-EEG monitoring units. View Abstract
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. View Abstract
Somatic activation of AKT3 causes hemispheric developmental brain malformations. View Abstract
Inheritance of febrile seizures in sudden unexplained death in toddlers. View Abstract
Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia. View Abstract
Trends in resource utilization by children with neurological impairment in the United States inpatient health care system: a repeat cross-sectional study. View Abstract
Micro-duplications of 1q32.1 associated with neurodevelopmental delay. View Abstract
Expect the unexpected in epilepsy genetics: mutations in an epilepsy gene considered to be benign result in a severe phenotype. View Abstract
Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. View Abstract
Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases. View Abstract
Epilepsy genetics--past, present, and future. View Abstract
Rufinamide for the treatment of epileptic spasms. View Abstract
Cerebral volumetric analysis over time in children with malformations of cortical development: a quantitative investigation. View Abstract
Nocturnal choking episodes: under-recognized and misdiagnosed. View Abstract
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. View Abstract
Experience with rufinamide in a pediatric population: a single center's experience. View Abstract
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. View Abstract
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. View Abstract
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. View Abstract
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. View Abstract
Effect of ACE inhibitors and beta-blockers on homocysteine levels in essential hypertension. View Abstract
Oxcarbazepine in children with nocturnal frontal-lobe epilepsy. View Abstract
Does albendazole affect seizure remission and computed tomography response in children with neurocysticercosis? A Systematic review and meta-analysis. View Abstract
Focal cortical malformations can show asymmetrically higher uptake on interictal fluorine-18 fluorodeoxyglucose positron emission tomography (PET). View Abstract
A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases. View Abstract
CA3 neuronal degeneration follows chronic entorhinal cortex lesions. View Abstract
Apolipoprotein E4 and beta amyloid in senile plaques and cerebral blood vessels of aged rhesus monkeys. View Abstract
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