Information

Related Research Units

Neurology Research
F.M. Kirby Neurobiology Center

Research Overview

Visit the Poduri Laboratory

The Genetics of Epilepsy and Related Neurological Disorders:  We have undertaken a long-term project to understand the genetics of epilepsy. We are currently focusing on malignant migrating partial epilepsy of infancy and other severe early-onset epilepsies, including infantile spasms, Ohtahara Syndrome and Dravet Syndrome.

PCDH19-Related Epilepsy Registry: In collaboration with the PCDH19 Alliance, our group at Boston Children's Hospital has created a registry for individuals with PCDH19-Related Epilepsy. Information will be used to help researchers gain a better understanding of PCDH19-Related Epilepsy and ultimately develop more effective treatment options. Additionally, participants in this Registry may learn more quickly about clinical trials when they become available. 

Developing zebrafish models of epilepsy: We are developing models in the zebrafish system to study novel genes in epilepsy but also as a high-throughput model to be used for the screening of potential targeted therapeutics for genetic epilepsies. One of the chief goals of the program is to bring genetic discovery from the lab back to patients in the form of clinical trials.

Epilepsy Genetics Initiative (EGI):  The EGI is a centralized database created to hold and re-analyze genetic data from individuals with epilepsy who have had whole exome sequencing with the hope that genetically undiagnosed cases of epilepsy will benefit from the rapid growth of knowledge in the genetics of epilepsy.

 

Research Background

Dr. Annapurna Poduri received her BA in Biology from Harvard University, her MD from the University of Pennsylvania School of Medicine, and her MPH from the Harvard School of Public Health.  She completed her pediatric training at Boston Children’s Hospital, child neurology residency at the Children’s Hospital of Philadelphia, and returned to Boston for a fellowship in clinical neurophysiology at Boston Children’s Hospital.  She went on to pursue training in neurogenetics in the clinic and through a post-doctoral fellowship with Dr. Christopher Walsh.  Dr. Poduri began her independent research program at Boston Children’s Hospital in 2013 focusing on the genetics of epilepsy.  She has been awarded the prestigious Dreifuss-Penry Epilepsy Award from the American Academy of Neurology and the Derek Denny-Brown Young Neurological Scholar Award from the American Neurological Association in 2015. Learn more about Epilepsy Genetics at Boston Children’s Hospital.

Selected Publications

  1. Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BFD, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12;74(1):41-48. PMID: 22500628. PMCID: PMC3460551. 
  2. Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in human brain. Cell. 2012 Oct 26. PMID: 23101622. PMCID: PMC3567441.
  3. Poduri A, Evrony GD, Cai X, Walsh CA.  Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 5;341(6141):1237758. PMID: 23828942. PMCID: PMC3909954.
  4. Shain C, Ramgopal S, Parulkar I, Faillil Z, Knowlton R, Poduri A, EPGP Investigators.  Polymicrogyria-associated epilepsy: a multi-center phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Aug;54(8):1368-75. PMID: 23750890. PMCID: PMC3851304.
  5. Epi4K Consortium (includes Poduri A); Epilepsy Phenome/Genome Project (includes Poduri A, Shain C, Yuskaitis CJ). Nature. 2013 Sep 12;501(7466):217-21. PMID: 23934111. PMCID: PMC3773011.
  6. Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec;74(6):873-82. PMID: 24596948. PMCID: PMC4031329.
  7. Olson HE, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan W-H, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu B-L, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun;75(6):943-58. PMID: 24811917.
  8. Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic Mutations in Cerebral Cortical Malformations. N Engl J Med. 2014 Aug 21;371(8):733-743.  PMID: 25140959. PMCID: PMC4274952.
  9. D’Gama AM, Geng Y, Couto JA, Martin, B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, B Barry BJ, Kwiatkowski DJ, Vinters HV, Shendure J, Mathern GW, Walsh CA, Poduri A.  Mammalian Target of Rapamycin Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia.  Ann Neurol. 2015 Apr;77(4):720-5.  PMID: 25599672.
  10. Kinney HC*, Poduri A*, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD (*equal contributors). Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Sep 9. PubMed PMID: 27612489.

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

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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
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