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Heather Elisa Olson, M.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol. 2019 Mar 27. PMID: 31147226.
    Citations:    
  2. Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain. 2019 Mar 01; 142(3):542-559. PMID: 30668673.
    Citations:    Fields:    
  3. Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. Pediatr Neurol. 2019 Feb 23. PMID: 30928302.
    Citations:    
  4. Dale T, Downs J, Olson H, Bergin AM, Smith S, Leonard H. Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder. Epilepsy Res. 2019 03; 151:31-39. PMID: 30771550.
    Citations:    
  5. Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 Mar; 60(3):406-418. PMID: 30682224.
    Citations:    Fields:    
  6. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. 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. PMID: 30290155.
    Citations:    Fields:    
  7. Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, Mullins JGL, Pilz DT, Fry AE. Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. Brain Sci. 2018 Aug 07; 8(8). PMID: 30087272.
    Citations:    
  8. Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. 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. PMID: 29656858.
    Citations:    Fields:    Translation:Humans
  9. Axeen EJT, Olson HE. Neonatal epilepsy genetics. Semin Fetal Neonatal Med. 2018 06; 23(3):197-203. PMID: 29426807.
    Citations:    Fields:    Translation:Humans
  10. Olson H, Rudloe T, Loddenkemper T, Harper MB, Kimia AA. Should patients with complex febrile seizure be admitted for further management? Am J Emerg Med. 2018 Aug; 36(8):1386-1390. PMID: 29317153.
    Citations:    Fields:    
  11. Sacharow SJ, Dudenhausen EE, Lomelino CL, Rodan L, El Achkar CM, Olson HE, Genetti CA, Agrawal PB, McKenna R, Kilberg MS. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. PMID: 29279279.
    Citations: 1     Fields:    
  12. Yang E, Storey A, Olson HE, Soul J, Estroff JA, Trenor CC, Cooper BK, Smith ER, Orbach DB. 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. PMID: 28965104.
    Citations:    Fields:    Translation:Humans
  13. Yang E, Storey A, Olson HE, Soul J, Estroff JA, Trenor CC, Cooper BK, Smith ER, Orbach DB. 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. PMID: 28965107.
    Citations:    Fields:    Translation:Humans
  14. Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 05; 176(5):1099-1107. PMID: 28944563.
    Citations:    Fields:    
  15. Lim Z, Wong K, Olson HE, Bergin AM, Downs J, Leonard H. Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. Epilepsia. 2017 08; 58(8):1415-1422. PMID: 28605011.
    Citations: 2     Fields:    Translation:Humans
  16. Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar; 81(3):419-429. PMID: 28133863.
    Citations: 4     Fields:    Translation:Humans
  17. Smith LA, Ullmann JF, Olson HE, Achkar CM, Truglio G, Kelly M, Rosen-Sheidley B, Poduri A. A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. PMID: 28056630.
    Citations:    Fields:    Translation:HumansAnimals
  18. Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. PMID: 27282546.
    Citations: 1     Fields:    Translation:Humans
  19. Aravamuthan BR, Sánchez Fernández I, Zurawski J, Olson H, Gorman M, Takeoka M. Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015 Oct; 2(5):e150. PMID: 26445726.
    Citations:    
  20. Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66. PMID: 26291284.
    Citations: 31     Fields:    Translation:Humans
  21. El Achkar CM, Olson HE, Poduri A, Pearl PL. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. PMID: 26008807.
    Citations: 8     Fields:    Translation:HumansAnimals
  22. Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A. 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. PMID: 25914188.
    Citations: 14     Fields:    Translation:Humans
  23. Benson LA, Olson H, Gorman MP. Evaluation and treatment of autoimmune neurologic disorders in the pediatric intensive care unit. Semin Pediatr Neurol. 2014 Dec; 21(4):284-90. PMID: 25727510.
    Citations: 1     Fields:    Translation:Humans
  24. Olson HE, Poduri A, Pearl PL. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79. PMID: 25192505.
    Citations: 6     Fields:    Translation:HumansAnimals
  25. Thome-Souza S, Kadish NE, Ramgopal S, Sánchez Fernández I, Bergin AM, Bolton J, Harini C, Libenson M, Olson H, Peters J, Poduri A, Rotenberg A, Takeoka M, Kothare SV, Kapur K, Bourgeois BF, Loddenkemper T. Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia. 2014 Aug; 55(8):1235-44. PMID: 25070475.
    Citations: 2     Fields:    Translation:Humans
  26. Orbach D, Storey A, Morash D, Estroff J, Smith E, Trenor C, Olson H. 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. PMID: 25064985.
    Citations:    
  27. Olson H, 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 WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. PMID: 24811917.
    Citations: 33     Fields:    Translation:Humans
  28. Olson HE, Lechpammer M, Prabhu SP, Ciarlini PD, Poduri A, Gooty VD, Anjum MW, Gorman MP, Loddenkemper T. Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. Epilepsia. 2013 Oct; 54(10):1753-60. PMID: 23980696.
    Citations: 6     Fields:    Translation:Humans
  29. Olson HE, Shen Y, Poduri A, Gorman MP, Dies KA, Robbins M, Hundley R, Wu B, Sahin M. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50. PMID: 22266072.
    Citations: 4     Fields:    Translation:HumansCells
  30. Kramer U, Chi CS, Lin KL, Specchio N, Sahin M, Olson H, Kluger G, van Baalen A. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30. PMID: 21967356.
    Citations: 4     Fields:    Translation:Humans
  31. Kramer U, Chi CS, Lin KL, Specchio N, Sahin M, Olson H, Nabbout R, Kluger G, Lin JJ, van Baalen A. Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia. 2011 Nov; 52(11):1956-65. PMID: 21883180.
    Citations: 23     Fields:    Translation:Humans
  32. Olson HE, Loddenkemper T, Vendrame M, Poduri A, Takeoka M, Bergin AM, Libenson MH, Duffy FH, Rotenberg A, Coulter D, Bourgeois BF, Kothare SV. Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011 Feb; 20(2):344-8. PMID: 21233024.
    Citations: 5     Fields:    Translation:Humans
  33. Olson HE, Rooney GE, Gross L, Nesbitt JJ, Galvin KE, Knight A, Chen B, Yaszemski MJ, Windebank AJ. 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. PMID: 19191513.
    Citations: 50     Fields:    Translation:AnimalsCells
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.