EDUCATION

Undergraduate Degree

  • Harvard University , 1994 , Cambridge , MA

Medical School

  • University of Pennsylvania , 1998 , Philadelphia , PA

Internship

Pediatrics
  • Boston Children's Hospital , 2000 , Boston , MA

Residency

Child Neurology
  • Children's Hospital of Philadelphia , 2003 , Philadelphia , PA

Fellowship

Electrophysiology/Pediatric Epilepsy
  • Boston Children's Hospital , 2005 , Boston , MA

PROFESSIONAL HISTORY

Dr. Annapurna Poduri is a clinician-scientist focused on understanding the genetic causes of human epilepsy. She is a pediatric neurologist and the director of the Programs in Neurogenetics and Epilepsy Genetics at Boston Children’s Hospital. Dr. Poduri’s role is to evaluate the contribution of epilepsy and its genetics to sudden death.

 

Dr. Poduri serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

CERTIFICATIONS

  • American Board of Psychiatry and Neurology, Child and Adolescent Neurology
  • American Board of Psychiatry and Neurology, Clinical Neurophysiology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 Jul; 62(7):e103-e109. View abstract
  2. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 May 24. View abstract
  3. KCNQ2-DEE: developmental or epileptic encephalopathy? Ann Clin Transl Neurol. 2021 03; 8(3):666-676. View abstract
  4. Genetic Factors Underlying Sudden Infant Death Syndrome. Appl Clin Genet. 2021; 14:61-76. View abstract
  5. 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
  6. 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
  7. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. J Med Genet. 2021 Jan 04. View abstract
  8. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. View abstract
  9. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
  10. Gene tests in adults with epilepsy and intellectual disability. Nat Rev Neurol. 2020 Oct; 16(10):527-528. View abstract
  11. 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
  12. 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
  13. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View abstract
  14. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View abstract
  15. Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. Brain. 2020 07 01; 143(7):2039-2057. View abstract
  16. 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
  17. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. View abstract
  18. 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
  19. Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab. Epilepsy Behav Rep. 2020; 14:100360. View abstract
  20. 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
  21. Mortality in infantile spasms: A hospital-based study. Epilepsia. 2020 04; 61(4):702-713. View abstract
  22. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 03; 61(3):387-399. View abstract
  23. 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
  24. 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
  25. 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
  26. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia. 2020 02; 61(2):249-258. View abstract
  27. Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):14S-22S. View abstract
  28. 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
  29. The Benchmarks: Progress and Emerging Priorities in Epilepsy Research. Epilepsy Curr. 2020 Jan-Feb; 20(1_suppl):3S-4S. View abstract
  30. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Ann Neurol. 2019 12; 86(6):821-831. View abstract
  31. Duplication 2p16 is associated with perisylvian polymicrogyria. . 2019 12; 179(12):2343-2356. View abstract
  32. Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Ann Neurol. 2019 12; 86(6):899-912. View abstract
  33. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View abstract
  34. Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain. 2019 10 01; 142(10):3009-3027. View abstract
  35. 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
  36. Correction: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Aug; 21(8):1896. View abstract
  37. Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments. Ann Neurol. 2019 09; 86(3):332-343. View abstract
  38. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Res. 2019 09; 155:106161. View abstract
  39. Correction to: The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Jul; 21(7):1671. View abstract
  40. 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
  41. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019 05 02; 104(5):948-956. View abstract
  42. 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
  43. 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
  44. 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
  45. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View abstract
  46. Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study. Neurology. 2019 Jan 04. View abstract
  47. High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology. Nat Commun. 2018 12 03; 9(1):5142. View abstract
  48. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. . 2018 12; 176(12):2554-2560. View abstract
  49. 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
  50. 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
  51. 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
  52. An Open-Source Husbandry Repository. Zebrafish. 2018 12; 15(6):656-658. View abstract
  53. 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
  54. Return of individual results in epilepsy genomic research: A view from the field. Epilepsia. 2018 09; 59(9):1635-1642. View abstract
  55. The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 02; 21(2):398-408. View abstract
  56. Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies. JAMA Pediatr. 2018 08 01; 172(8):779-780. View abstract
  57. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018 07; 50(7):1048-1053. View abstract
  58. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 06; 83(6):1133-1146. View abstract
  59. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. View abstract
  60. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. Pediatr Neurol. 2018 10; 87:48-56. View abstract
  61. Clinical Application of Epilepsy Genetics in Africa: Is Now the Time? Front Neurol. 2018; 9:276. View abstract
  62. 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
  63. 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
  64. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. View abstract
  65. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms. J Child Neurol. 2018 05; 33(6):405-412. View abstract
  66. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. PLoS One. 2018; 13(3):e0193599. View abstract
  67. White matter spongiosis with vigabatrin therapy for infantile spasms. Epilepsia. 2018 04; 59(4):e40-e44. View abstract
  68. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia. 2018 03; 59(3):679-689. View abstract
  69. 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
  70. 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
  71. 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
  72. 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
  73. 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
  74. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology. 2018 01 02; 90(1):e55-e66. View abstract
  75. 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
  76. A randomized controlled trial of levodopa in patients with Angelman syndrome. . 2018 05; 176(5):1099-1107. View abstract
  77. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 05; 101(4):516-524. View abstract
  78. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. View abstract
  79. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. View abstract
  80. Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. Epilepsy Behav Case Rep. 2019; 11:125-128. View abstract
  81. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. View abstract
  82. When Should Genetic Testing Be Performed in Epilepsy Patients? Epilepsy Curr. 2017 Jan-Feb; 17(1):16-22. View abstract
  83. Tracking the Fate of Cells in Health and Disease. N Engl J Med. 2016 Dec 22; 375(25):2494-2496. View abstract
  84. De novo GABRG2 mutations associated with epileptic encephalopathies. Brain. 2017 01; 140(1):49-67. View abstract
  85. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View abstract
  86. 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
  87. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. View abstract
  88. Correction: Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. PLoS One. 2016; 11(7):e0159472. View abstract
  89. Microarray Noninvasive Neuronal Seizure Recordings from Intact Larval Zebrafish. PLoS One. 2016; 11(6):e0156498. View abstract
  90. The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition. Neuroscientist. 2016 12; 22(6):555-562. View abstract
  91. Effectiveness of once-daily high-dose ACTH for infantile spasms. Epilepsy Behav. 2016 06; 59:4-8. View abstract
  92. Comments from the Editor(s). Epilepsia. 2016 Feb; 57(2):336-7. View abstract
  93. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30. View abstract
  94. Disorders of Microtubule Function in Neurons: Imaging Correlates. AJNR Am J Neuroradiol. 2016 Mar; 37(3):528-35. View abstract
  95. The Expanding SCN8A-Related Epilepsy Phenotype. Epilepsy Curr. 2015 Nov-Dec; 15(6):333-4. View abstract
  96. Comparison of Drug Utilization Patterns in Observational Data: Antiepileptic Drugs in Pediatric Patients. Paediatr Drugs. 2015 Oct; 17(5):401-10. View abstract
  97. Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun. 2015 Sep 03; 6:8038. View abstract
  98. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. Epilepsy Behav. 2015 Oct; 51:321-7. View abstract
  99. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66. View abstract
  100. Juvenile myoclonic epilepsy and narcolepsy: A series of three cases. Epilepsy Behav. 2015 Oct; 51:163-5. View abstract
  101. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View abstract
  102. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015 Sep; 56(9):e114-20. View abstract
  103. Megalencephaly and Macrocephaly. Semin Neurol. 2015 Jun; 35(3):277-87. View abstract
  104. Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy. Epilepsy Curr. 2015 May-Jun; 15(3):122-3. View abstract
  105. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. . 2015 Sep; 167A(9):2017-25. View abstract
  106. 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
  107. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View abstract
  108. 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
  109. HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy. Epilepsy Curr. 2014 Nov-Dec; 14(6):348-9. View abstract
  110. Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. Ann Neurol. 2014 Oct; 76(4):581-93. View abstract
  111. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View abstract
  112. A channel for precision diagnosis and treatment in genetic epilepsy. Ann Neurol. 2014 Sep; 76(3):323-4. View abstract
  113. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View abstract
  114. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2014 Sep 11; 8(5):1280-9. View abstract
  115. Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia. 2014 Aug; 55(8):1235-44. View abstract
  116. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
  117. Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. Am J Med Genet C Semin Med Genet. 2014 Jun; 166C(2):156-72. View abstract
  118. Surgery for intractable epilepsy due to unilateral brain disease: a retrospective study comparing hemispherectomy techniques. Pediatr Neurol. 2014 Sep; 51(3):336-43. View abstract
  119. DEPDC5 does it all: shared genetics for diverse epilepsy syndromes. Ann Neurol. 2014 May; 75(5):631-3. View abstract
  120. Genetic testing in the epilepsies-developments and dilemmas. Nat Rev Neurol. 2014 May; 10(5):293-9. View abstract
  121. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 03; 94(4):547-58. View abstract
  122. Rasmussen's encephalitis presenting as focal cortical dysplasia. Epilepsy Behav Case Rep. 2014; 2:86-9. View abstract
  123. Clobazam: effect on frequency of seizures and safety profile in different subgroups of children with epilepsy. Pediatr Neurol. 2014 Jul; 51(1):60-6. View abstract
  124. Reply: To PMID 24243345. Ann Neurol. 2014 Feb; 75(2):326. View abstract
  125. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82. View abstract
  126. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013 Nov 05; 81(19):1697-703. View abstract
  127. Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. Epilepsia. 2013 Oct; 54(10):1753-60. View abstract
  128. Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis. Neuroimage. 2014 Feb 01; 86:182-93. View abstract
  129. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12; 501(7466):217-21. View abstract
  130. 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
  131. Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 05; 341(6141):1237758. View abstract
  132. The epilepsy phenome/genome project. Clin Trials. 2013 Aug; 10(4):568-86. View abstract
  133. Electrode localization for planning surgical resection of the epileptogenic zone in pediatric epilepsy. Int J Comput Assist Radiol Surg. 2014 Jan; 9(1):91-105. View abstract
  134. Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Aug; 54(8):1368-75. View abstract
  135. Perfusion Imaging of Focal Cortical Dysplasia Using Arterial Spin Labeling: Correlation With Histopathological Vascular Density. J Child Neurol. 2013 Nov; 28(11):1474-1482. View abstract
  136. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013 May; 136(Pt 5):1578-91. View abstract
  137. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia. 2013 May; 54(5):e81-5. View abstract
  138. Focal cortical dysplasia is more common in boys than in girls. Epilepsy Behav. 2013 Apr; 27(1):121-3. View abstract
  139. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View abstract
  140. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96. View abstract
  141. Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. AJNR Am J Neuroradiol. 2013 Apr; 34(4):877-83. View abstract
  142. Hippocampal asymmetry and sudden unexpected death in infancy: a case report. Forensic Sci Med Pathol. 2012 Dec; 8(4):441-6. View abstract
  143. Dacrystic seizures: demographic, semiologic, and etiologic insights from a multicenter study in long-term video-EEG monitoring units. Epilepsia. 2012 Oct; 53(10):1810-9. View abstract
  144. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View abstract
  145. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12; 74(1):41-8. View abstract
  146. Inheritance of febrile seizures in sudden unexplained death in toddlers. Pediatr Neurol. 2012 Apr; 46(4):235-9. View abstract
  147. Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia. Ann Neurol. 2012 Apr; 71(4):539-51. View abstract
  148. Trends in resource utilization by children with neurological impairment in the United States inpatient health care system: a repeat cross-sectional study. PLoS Med. 2012 Jan; 9(1):e1001158. View abstract
  149. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50. View abstract
  150. Expect the unexpected in epilepsy genetics: mutations in an epilepsy gene considered to be benign result in a severe phenotype. Ann Neurol. 2012 Jan; 71(1):1-2. View abstract
  151. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR Am J Neuroradiol. 2011 Jun-Jul; 32(6):1123-9. View abstract
  152. Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases. Epileptic Disord. 2011 Mar; 13(1):18-21. View abstract
  153. Epilepsy genetics--past, present, and future. Curr Opin Genet Dev. 2011 Jun; 21(3):325-32. View abstract
  154. Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011 Feb; 20(2):344-8. View abstract
  155. Cerebral volumetric analysis over time in children with malformations of cortical development: a quantitative investigation. J Child Neurol. 2011 Feb; 26(2):171-8. View abstract
  156. Nocturnal choking episodes: under-recognized and misdiagnosed. Pediatr Neurol. 2010 Nov; 43(5):355-8. View abstract
  157. Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. . 2010 Nov; 152A(11):2736-42. View abstract
  158. Experience with rufinamide in a pediatric population: a single center's experience. Pediatr Neurol. 2010 Sep; 43(3):155-8. View abstract
  159. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. Neurology. 2009 Oct 20; 73(16):1264-72. View abstract
  160. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5. View abstract
  161. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008 Nov; 29(11):E231-41. View abstract
  162. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract
  163. Effect of ACE inhibitors and beta-blockers on homocysteine levels in essential hypertension. J Hum Hypertens. 2008 Apr; 22(4):289-94. View abstract
  164. Oxcarbazepine in children with nocturnal frontal-lobe epilepsy. Pediatr Neurol. 2007 Nov; 37(5):345-9. View abstract
  165. Does albendazole affect seizure remission and computed tomography response in children with neurocysticercosis? A Systematic review and meta-analysis. J Child Neurol. 2007 Feb; 22(2):135-42. View abstract
  166. Focal cortical malformations can show asymmetrically higher uptake on interictal fluorine-18 fluorodeoxyglucose positron emission tomography (PET). J Child Neurol. 2007 Feb; 22(2):232-7. View abstract
  167. A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases. Epilepsia. 2005 Aug; 46(8):1317-21. View abstract
  168. CA3 neuronal degeneration follows chronic entorhinal cortex lesions. Neurosci Lett. 1995 Sep 01; 197(1):1-4. View abstract
  169. Apolipoprotein E4 and beta amyloid in senile plaques and cerebral blood vessels of aged rhesus monkeys. Am J Pathol. 1994 Jun; 144(6):1183-7. View abstract