Dr. Olson’s research is in the area of Epilepsy Genetics including understanding the genetic causes of early life epilepsy syndromes and phenotype-genotype associations.  She works closely with colleagues in the Epilepsy Genetics Program including mentor Annapurna Poduri, M.D. M.P.H., Beth Sheidley, M.S. C.G.C., Lacey Smith, M.S. C.G.C., Christelle Moufawad El Achkar, M.D., McKenna Kelley, Rebecca Pinsky and others.  She is also director of the CDKL5 Center of Excellence, a combined clinical and research program. A summary of ongoing projects includes the following:

  • Genetics of Ohtahara Syndrome and Infantile Spasms, including through whole exome sequencing
  • CDKL5 clinic based research project, in collaboration with two other Centers of Excellence and the International Foundation for CDKL5 research
  • Genotype-phenotype correlations in candidate and known epilepsy genes, and collaboration with basic scientists for related functional analysis of variants
  • Evaluation of clinical genetic testing approaches in Epilepsy, including copy number variation, gene panels and whole exome sequencing
  • Pilot study evaluating for genetic causes of Febrile Infection Related Epilepsy Syndrome (FIRES)
  • Clinical trial for ganaxolone in PCDH19 related epilepsy, registry for PCDH19 related epilepsy


Dr. Olson completed medical school training at Mayo Medical School, including one additional year to complete a certificate program in clinical research while doing neuroscience research in the laboratory of Anthony Windebank, MD.  She completed all of her post-graduate medical training in Boston including training in Pediatric Neurology, Epilepsy and Clinical Neurophysiology and Epilepsy Genetics.  Since joining the faculty at Boston Children’s Hospital in 2013, she works as a clinician and clinical researcher with a focus on Neurogenetic disorders and Epilepsy.  Additionally she sees patients along with colleagues Drs. Benson and Gorman in their joint Inflammatory Epilepsy Program. Her research is in the field of Epilepsy Genetics, particularly genetics of early onset epileptic encephalopathies and infantile spasms.  Additionally, she is working towards a Master of Science degree in Epidemiology through the Harvard T.H. Chan School of Public Health, with a focus on Genetic Epidemiology and Statistical Genetics.  She is grateful for current and past research support that she has received through NINDS (K12), the International Foundation for CDKL5 Research, Child Neurology Foundation (Infantile Spasms Award), the Dravet Syndrome Foundation, Aaron’s Ohtahara, the PCDH19 Alliance, and the RE Children’s Project.  Her hope is that as the genetics of epilepsy is better understood, targeted therapies will lead to an improvement in care and quality of life.


Publications powered by Harvard Catalyst Profiles

  1. 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
  2. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 09 16; 13(1):40. View abstract
  3. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2021 Aug 25. View abstract
  4. Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. J Child Neurol. 2021 10; 36(11):998-1006. View abstract
  5. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 11; 63(11):1308-1315. View abstract
  6. Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD). Stem Cell Res. 2021 05; 53:102276. View abstract
  7. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Am J Med Genet A. 2021 05; 185(5):1614-1618. View abstract
  8. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. View abstract
  9. Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. Brain. 2020 07 01; 143(7):2039-2057. View abstract
  10. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 03; 61(3):387-399. View abstract
  11. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia. 2020 02; 61(2):249-258. View abstract
  12. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 08; 60(8):1733-1742. View abstract
  13. Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol. 2019 08; 97:38-42. View abstract
  14. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain. 2019 03 01; 142(3):542-559. View abstract
  15. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. Pediatr Neurol. 2019 08; 97:18-25. View abstract
  16. Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder. Epilepsy Res. 2019 03; 151:31-39. View abstract
  17. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View abstract
  18. 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
  19. Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. Brain Sci. 2018 Aug 07; 8(8). View abstract
  20. 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
  21. Neonatal epilepsy genetics. Semin Fetal Neonatal Med. 2018 06; 23(3):197-203. View abstract
  22. Should patients with complex febrile seizure be admitted for further management? Am J Emerg Med. 2018 08; 36(8):1386-1390. View abstract
  23. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View abstract
  24. Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part I: review of experience at Boston Children's Hospital. J Neurointerv Surg. 2018 May; 10(5):467-470. View abstract
  25. Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part II: synthesis of the literature and patient management. J Neurointerv Surg. 2018 May; 10(5):471-475. View abstract
  26. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107. View abstract
  27. Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. Epilepsia. 2017 08; 58(8):1415-1422. View abstract
  28. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. View abstract
  29. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. View abstract
  30. BRAT1 mutations present with a spectrum of clinical severity. . 2016 09; 170(9):2265-73. View abstract
  31. Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015 Oct; 2(5):e150. View abstract
  32. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66. View abstract
  33. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View abstract
  34. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. . 2015 Sep; 167A(9):2017-25. View abstract
  35. Evaluation and treatment of autoimmune neurologic disorders in the pediatric intensive care unit. Semin Pediatr Neurol. 2014 Dec; 21(4):284-90. View abstract
  36. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View abstract
  37. Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia. 2014 Aug; 55(8):1235-44. View abstract
  38. E-066 pathogenesis of dural sinus malformations as demonstrated by fetal imaging: a decision-making crucible for parents and clinicians. J Neurointerv Surg. 2014 Jul; 6 Suppl 1:A69-70. View abstract
  39. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
  40. Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. Epilepsia. 2013 Oct; 54(10):1753-60. View abstract
  41. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50. View abstract
  42. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30. View abstract
  43. Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia. 2011 Nov; 52(11):1956-65. View abstract
  44. Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011 Feb; 20(2):344-8. View abstract
  45. Neural stem cell- and Schwann cell-loaded biodegradable polymer scaffolds support axonal regeneration in the transected spinal cord. Tissue Eng Part A. 2009 Jul; 15(7):1797-805. View abstract