Current Environment: Production

Medical Services

Specialties

Programs & 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

Certifications

  • American Board of Psychiatry and Neurology
  • American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
  • American Board of Psychiatry and Neurology (Clinical Neurophysiology)

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.

Media

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Publications

  1. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract

  2. Genome Sequencing After Exome Sequencing in Pediatric Epilepsy. JAMA Neurol. 2024 Dec 01; 81(12):1316-1318. View Abstract

  3. Frontal Lobe Epilepsy: Bermuda's Triangle. Epilepsy Curr. 2024 Sep 28; 15357597241280055. View Abstract

  4. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. medRxiv. 2024 Sep 20. View Abstract

  5. N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward. Epilepsia. 2024 Nov; 65(11):3119-3137. View Abstract

  6. Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy. medRxiv. 2024 Aug 09. View Abstract

  7. Machine learning enables high-throughput, low-replicate screening for novel anti-seizure targets and compounds using combined movement and calcium fluorescence in larval zebrafish. bioRxiv. 2024 Aug 05. View Abstract

  8. De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. Am J Hum Genet. 2024 Aug 08; 111(8):1588-1604. View Abstract

  9. Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. medRxiv. 2024 Jul 22. View Abstract

  10. Response to Horta et al. Genet Med. 2024 Nov; 26(11):101215. View Abstract

  11. Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 2024 Jul 19; 27(7):110172. View Abstract

  12. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatr Neurol. 2024 Aug; 157:79-86. View Abstract

  13. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jun 06; 111(6):1239. View Abstract

  14. 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 Abstract

  15. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ Genom Med. 2024 Apr 06; 9(1):27. View Abstract

  16. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Apr 04; 111(4):805. View Abstract

  17. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism. Epilepsia. 2024 May; 65(5):1428-1438. View Abstract

  18. Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. bioRxiv. 2024 Feb 08. View Abstract

  19. Seizures and Sudden Death Beyond SUDEP. Neurology. 2024 Feb 13; 102(3):e208119. View Abstract

  20. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118. View Abstract

  21. Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Ann Clin Transl Neurol. 2024 02; 11(2):251-262. View Abstract

  22. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024 Feb; 10(1):e200117. View Abstract

  23. Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy. Epilepsy Behav. 2023 Dec; 149:109517. View Abstract

  24. Clinical and functional consequences of GRIA variants in patients with neurological diseases. Cell Mol Life Sci. 2023 Nov 03; 80(11):345. View Abstract

  25. Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. Nat Genet. 2023 Nov; 55(11):1920-1928. View Abstract

  26. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. Dev Med Child Neurol. 2024 Apr; 66(4):456-468. View Abstract

  27. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023 09; 22(9):812-825. View Abstract

  28. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. JAMA Neurol. 2023 09 01; 80(9):980-988. View Abstract

  29. Toward representative genomic research: the children's rare disease cohorts experience. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040231181406. View Abstract

  30. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. View Abstract

  31. The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. Front Med (Lausanne). 2023; 10:1166188. View Abstract

  32. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA Neurol. 2023 06 01; 80(6):578-587. View Abstract

  33. Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy. Epilepsia. 2023 07; 64(7):e143-e147. View Abstract

  34. Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies. Epilepsia. 2023 07; 64(7):1821-1832. View Abstract

  35. Brain somatic mosaicism in epilepsy: Bringing results back to the clinic. Neurobiol Dis. 2023 06 01; 181:106104. View Abstract

  36. Global neurology: It's time to take notice. Ann Clin Transl Neurol. 2023 05; 10(5):842-845. View Abstract

  37. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 12 01; 79(12):1287-1295. View Abstract

  38. Re: Technical Report for Updated 2022 Recommendations for Reducing Infant Deaths in the Sleep Environment. Pediatrics. 2022 12 01; 150(6). View Abstract

  39. Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. Adv Genet (Hoboken). 2023 Mar; 4(1):2200012. View Abstract

  40. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology. 2023 01 31; 100(5):e528-e542. View Abstract

  41. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. Pediatr Neurol. 2023 01; 138:71-80. View Abstract

  42. Current practice in diagnostic genetic testing of the epilepsies Epileptic Disord. 2022 10 01; 24(5):765-786. View Abstract

  43. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 09 14; 145(9):2991-3009. View Abstract

  44. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain. 2022 08 27; 145(8):2704-2720. View Abstract

  45. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View Abstract

  46. Underrepresentation of the term cerebral palsy in clinical genetics databases. Am J Med Genet A. 2022 12; 188(12):3555-3557. View Abstract

  47. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. J Med Genet. 2022 Jul 05. View Abstract

  48. Child Neurology: Initial Presentation of PCDH19-Related Epilepsy With New-Onset Refractory Status Epilepticus and Treatment With Anakinra. Neurology. 2022 08 02; 99(5):208-211. View Abstract

  49. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2022 06 03; 145(5):1668-1683. View Abstract

  50. Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish. Neurobiol Dis. 2022 07; 169:105738. View Abstract

  51. Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability. Brain. 2022 04 18; 145(2):416-417. View Abstract

  52. Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long-term treatment response. Epilepsia. 2022 05; 63(5):1164-1176. View Abstract

  53. PIGN encephalopathy: Characterizing the epileptology. Epilepsia. 2022 04; 63(4):974-991. View Abstract

  54. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract

  55. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 03; 43(3):403-419. View Abstract

  56. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. View Abstract

  57. Genetic testing for the epilepsies: A systematic review. Epilepsia. 2022 02; 63(2):375-387. View Abstract

  58. Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet syndrome and recurrent status epilepticus. Epileptic Disord. 2021 Dec 01; 23(6):954-956. View Abstract

  59. Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. Lancet Neurol. 2021 11; 20(11):943-955. View Abstract

  60. Precision Therapy for Epilepsy Related to Brain Malformations. Neurotherapeutics. 2021 07; 18(3):1548-1563. View Abstract

  61. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 09 16; 13(1):40. View Abstract

  62. The 2021 Epilepsy Research Benchmarks-Respecting Core Principles, Reflecting Evolving Community Priorities. Epilepsy Curr. 2021 Oct; 21(5):389-393. View Abstract

  63. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109. View Abstract

  64. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 11; 63(11):1308-1315. View Abstract

  65. KCNQ2-DEE: developmental or epileptic encephalopathy? Ann Clin Transl Neurol. 2021 03; 8(3):666-676. View Abstract

  66. Genetic Factors Underlying Sudden Infant Death Syndrome. Appl Clin Genet. 2021; 14:61-76. View Abstract

  67. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View Abstract

  68. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. Genet Med. 2021 05; 23(5):900-908. View Abstract

  69. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. J Med Genet. 2022 03; 59(3):262-269. View Abstract

  70. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. View Abstract

  71. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract

  72. Gene tests in adults with epilepsy and intellectual disability. Nat Rev Neurol. 2020 10; 16(10):527-528. View Abstract

  73. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2020 10 01; 107(4):683-697. View Abstract

  74. A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Eur J Med Genet. 2020 Sep; 63(9):104002. View Abstract

  75. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Abstract

  76. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Abstract

  77. Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. Brain. 2020 07 01; 143(7):2039-2057. View Abstract

  78. Experiencing Positive Health, as a Family, While Living With a Rare Complex Disease: Bringing Participatory Medicine Through Collaborative Decision Making Into the Real World. J Particip Med. 2020 Jun 22; 12(2):e17602. View Abstract

  79. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. View Abstract

  80. Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force. Epileptic Disord. 2020 Apr 01; 22(2):127-141. View Abstract

  81. Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab. Epilepsy Behav Rep. 2020; 14:100360. View Abstract

  82. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med. 2020 03 17; 12(1):28. View Abstract

  83. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View Abstract

  84. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 03; 61(3):387-399. View Abstract

  85. Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):31S-39S. View Abstract

  86. Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):5S-13S. View Abstract

  87. Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):23S-30S. View Abstract

  88. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia. 2020 02; 61(2):249-258. View Abstract

  89. Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):14S-22S. View Abstract

  90. The Benchmarks: Progress and Emerging Priorities in Epilepsy Research. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):3S-4S. View Abstract

  91. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. Dev Med Child Neurol. 2020 09; 62(9):1096-1099. View Abstract

  92. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Ann Neurol. 2019 12; 86(6):821-831. View Abstract

  93. Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356. View Abstract

  94. Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol. 2019 12; 86(6):899-912. View Abstract

  95. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Abstract

  96. Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain. 2019 10 01; 142(10):3009-3027. View Abstract

  97. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. Hum Mol Genet. 2019 09 01; 28(17):2952-2964. View Abstract

  98. Correction: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Aug; 21(8):1896. View Abstract

  99. Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments. Ann Neurol. 2019 09; 86(3):332-343. View Abstract

  100. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Res. 2019 09; 155:106161. View Abstract

  101. Correction to: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Jul; 21(7):1671. View Abstract

  102. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 06 06; 104(6):1060-1072. View Abstract

  103. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019 05 02; 104(5):948-956. View Abstract

  104. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. View Abstract

  105. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541. View Abstract

  106. Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. Cold Spring Harb Mol Case Stud. 2019 02; 5(1). View Abstract

  107. Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study. Neurology. 2019 Jan 28; 92(5):e418-e428. View Abstract

  108. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View Abstract

  109. High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology. Nat Commun. 2018 12 03; 9(1):5142. View Abstract

  110. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560. View Abstract

  111. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. 2018 11; 39(11):1476-1484. View Abstract

  112. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. View Abstract

  113. 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 Abstract

  114. An Open-Source Husbandry Repository. Zebrafish. 2018 12; 15(6):656-658. View Abstract

  115. Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. 2018 09 05; 99(5):905-913.e7. View Abstract

  116. Return of individual results in epilepsy genomic research: A view from the field. Epilepsia. 2018 09; 59(9):1635-1642. View Abstract

  117. The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 02; 21(2):398-408. View Abstract

  118. Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies. JAMA Pediatr. 2018 08 01; 172(8):779-780. View Abstract

  119. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018 07; 50(7):1048-1053. View Abstract

  120. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 06; 83(6):1133-1146. View Abstract

  121. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. View Abstract

  122. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatr Neurol. 2018 10; 87:48-56. View Abstract

  123. Clinical Application of Epilepsy Genetics in Africa: Is Now the Time? Front Neurol. 2018; 9:276. View Abstract

  124. 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 Abstract

  125. HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion. Pediatrics. 2018 04; 141(Suppl 5):S434-S438. View Abstract

  126. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. View Abstract

  127. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View Abstract

  128. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. PLoS One. 2018; 13(3):e0193599. View Abstract

  129. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. View Abstract

  130. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia. 2018 03; 59(3):679-689. View Abstract

  131. Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. PLoS One. 2018; 13(1):e0191503. View Abstract

  132. Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies. Epilepsy Curr. 2018 Jan-Feb; 18(1):24-26. View Abstract

  133. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766. View Abstract

  134. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet. 2018 01 04; 102(1):44-57. View Abstract

  135. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018 03; 111:91-101. View Abstract

  136. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology. 2018 01 02; 90(1):e55-e66. View Abstract

  137. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PLoS Genet. 2017 Nov; 13(11):e1007104. View Abstract

  138. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107. View Abstract

  139. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 05; 101(4):516-524. View Abstract

  140. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. View Abstract

  141. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. View Abstract

  142. Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. Epilepsy Behav Case Rep. 2019; 11:125-128. View Abstract

  143. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. View Abstract

  144. When Should Genetic Testing Be Performed in Epilepsy Patients? Epilepsy Curr. 2017 Jan-Feb; 17(1):16-22. View Abstract

  145. Tracking the Fate of Cells in Health and Disease. N Engl J Med. 2016 Dec 22; 375(25):2494-2496. View Abstract

  146. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017 01; 140(1):49-67. View Abstract

  147. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View Abstract

  148. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet. 2016 11; 48(11):1349-1358. View Abstract

  149. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. View Abstract

  150. Correction: Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. PLoS One. 2016; 11(7):e0159472. View Abstract

  151. Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. PLoS One. 2016; 11(6):e0156498. View Abstract

  152. The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition. Neuroscientist. 2016 12; 22(6):555-562. View Abstract

  153. Effectiveness of once-daily high-dose ACTH for infantile spasms. Epilepsy Behav. 2016 06; 59:4-8. View Abstract

  154. Comments from the Editor(s). Epilepsia. 2016 Feb; 57(2):336-7. View Abstract

  155. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30. View Abstract

  156. Disorders of Microtubule Function in Neurons: Imaging Correlates. AJNR Am J Neuroradiol. 2016 Mar; 37(3):528-35. View Abstract

  157. The Expanding SCN8A-Related Epilepsy Phenotype. Epilepsy Curr. 2015 Nov-Dec; 15(6):333-4. View Abstract

  158. Comparison of Drug Utilization Patterns in Observational Data: Antiepileptic Drugs in Pediatric Patients. Paediatr Drugs. 2015 Oct; 17(5):401-10. View Abstract

  159. Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun. 2015 Sep 03; 6:8038. View Abstract

  160. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. Epilepsy Behav. 2015 Oct; 51:321-7. View Abstract

  161. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66. View Abstract

  162. Juvenile myoclonic epilepsy and narcolepsy: A series of three cases. Epilepsy Behav. 2015 Oct; 51:163-5. View Abstract

  163. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View Abstract

  164. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015 Sep; 56(9):e114-20. View Abstract

  165. Megalencephaly and Macrocephaly. Semin Neurol. 2015 Jun; 35(3):277-87. View Abstract

  166. Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy. Epilepsy Curr. 2015 May-Jun; 15(3):122-3. View Abstract

  167. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A. 2015 Sep; 167A(9):2017-25. View Abstract

  168. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. View Abstract

  169. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View Abstract

  170. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2015 Feb 03; 10(4):645. View Abstract

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  192. Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report. Forensic Sci Med Pathol. 2013 Sep; 9(3):418-21. View Abstract

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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.

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