Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
Neurology Research

Research Overview

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

Research Background

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.

Links:

Clinician Profile Page

Neurogenetics Webpage

 

Epilepsy Genetics Program

Brain Development and Genetics Program

Advanced Fetal Care Center Websites

Education

Medical School

Mayo Medical School
2006 Rochester NY US

Undergraduate School

Colby College
2001 Waterville ME US

Residency

Pediatrics Boston Combined Residency Program (BCRP)
2008 Boston MA US

Residency

Pediatric Neurology Boston Children's Hospital
2011 Boston MA US

Fellowship

Epilepsy; Clinical Neurophysiology Boston Children's Hospital
2012 Boston MA US

Fellowship

Neurogenetics; Epilepsy Genetics Boston Children's Hospital
2013 Boston MA US

Publications

  1. The natural history of CDKL5 deficiency disorder into adulthood. medRxiv. 2025 Jan 13. View Abstract
  2. Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study. J Clin Sleep Med. 2024 Dec 01; 20(12):1887-1893. View Abstract
  3. Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons. bioRxiv. 2024 Nov 11. View Abstract
  4. Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report. Res Sq. 2024 Sep 10. View Abstract
  5. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 Jan; 197(1):e63843. View Abstract
  6. Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder. Epilepsia. 2024 Oct; 65(10):3064-3075. View Abstract
  7. Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database. CNS Drugs. 2024 Sep; 38(9):719-732. View Abstract
  8. Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial. Eur J Paediatr Neurol. 2024 Jul; 51:140-146. View Abstract
  9. CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description. Am J Intellect Dev Disabil. 2024 Mar 01; 129(2):101-109. View Abstract
  10. Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience. Epilepsia. 2024 Apr; 65(4):984-994. View Abstract
  11. Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study. Epilepsy Res. 2024 Feb; 200:107287. View Abstract
  12. Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up. Epilepsia. 2024 Jan; 65(1):37-45. View Abstract
  13. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. Dev Med Child Neurol. 2024 Apr; 66(4):456-468. View Abstract
  14. The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder. Epilepsy Res. 2023 11; 197:107231. View Abstract
  15. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. View Abstract
  16. Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. Orphanet J Rare Dis. 2023 06 12; 18(1):149. View Abstract
  17. Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy. Epilepsia. 2023 07; 64(7):e143-e147. View Abstract
  18. Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies. Epilepsia. 2023 07; 64(7):1821-1832. View Abstract
  19. Comparison of evoked potentials across four related developmental encephalopathies. J Neurodev Disord. 2023 03 04; 15(1):10. View Abstract
  20. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. Pediatr Neurol. 2023 01; 138:71-80. View Abstract
  21. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 09 14; 145(9):2991-3009. View Abstract
  22. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524. View Abstract
  23. Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder. Brain Commun. 2022; 4(4):fcac197. View Abstract
  24. International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder. Front Neurol. 2022; 13:874695. View Abstract
  25. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2022 06 03; 145(5):1668-1683. View Abstract
  26. CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment. CNS Drugs. 2022 06; 36(6):591-604. View Abstract
  27. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. Lancet Neurol. 2022 05; 21(5):417-427. View Abstract
  28. CDKL5 deficiency disorder: clinical features, diagnosis, and management. Lancet Neurol. 2022 06; 21(6):563-576. View Abstract
  29. Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability. Brain. 2022 04 18; 145(2):416-417. View Abstract
  30. PIGN encephalopathy: Characterizing the epileptology. Epilepsia. 2022 04; 63(4):974-991. View Abstract
  31. 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
  32. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 09 16; 13(1):40. View Abstract
  33. 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
  34. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. Dev Med Child Neurol. 2021 11; 63(11):1308-1315. View Abstract
  35. 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
  36. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Am J Med Genet A. 2021 05; 185(5):1614-1618. View Abstract
  37. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. View Abstract
  38. Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. Brain. 2020 07 01; 143(7):2039-2057. View Abstract
  39. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 03; 61(3):387-399. View Abstract
  40. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia. 2020 02; 61(2):249-258. View Abstract
  41. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 08; 60(8):1733-1742. View Abstract
  42. Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol. 2019 08; 97:38-42. View Abstract
  43. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain. 2019 03 01; 142(3):542-559. View Abstract
  44. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. Pediatr Neurol. 2019 08; 97:18-25. View Abstract
  45. Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder. Epilepsy Res. 2019 03; 151:31-39. View Abstract
  46. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View Abstract
  47. 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
  48. Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. Brain Sci. 2018 Aug 07; 8(8). View Abstract
  49. 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
  50. Neonatal epilepsy genetics. Semin Fetal Neonatal Med. 2018 06; 23(3):197-203. View Abstract
  51. Should patients with complex febrile seizure be admitted for further management? Am J Emerg Med. 2018 08; 36(8):1386-1390. View Abstract
  52. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View Abstract
  53. 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
  54. 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
  55. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107. View Abstract
  56. 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
  57. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. View Abstract
  58. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. View Abstract
  59. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. View Abstract
  60. Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015 Oct; 2(5):e150. View Abstract
  61. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66. View Abstract
  62. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View Abstract
  63. 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
  64. Evaluation and treatment of autoimmune neurologic disorders in the pediatric intensive care unit. Semin Pediatr Neurol. 2014 Dec; 21(4):284-90. View Abstract
  65. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. View Abstract
  66. Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia. 2014 Aug; 55(8):1235-44. View Abstract
  67. 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
  68. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Abstract
  69. Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. Epilepsia. 2013 Oct; 54(10):1753-60. View Abstract
  70. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50. View Abstract
  71. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30. View Abstract
  72. 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
  73. Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011 Feb; 20(2):344-8. View Abstract
  74. 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

Contact Heather Olson

Print Profile