HeatherEOlsonMD

PubMed

• Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience.
  Aristides Hadjinicolaou, Christina Briscoe Abath, Avantika Singh, Stephanie Donatelli, Catherine L Salussolia, Alexander Li Cohen, Jie He, Nishtha Gupta, Sabrina Merch...> ;Epilepsia. 2024 Apr 1
• 1 citations
  Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.
  Heather E Olson, Sam Amin, Nadia Bahi-Buisson, Orrin Devinsky, Eric D Marsh, Elia Pestana-Knight, Rajsekar R Rajaraman, Alex A Aimetti, Eva Rybak, Fanhui Kong, Ian Mil...> ;Epilepsia. 2024 Jan 1
• 2 citations
  CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
  Carolyn Daniels, Caitlin Greene, Lacey Smith, Elia Pestana-Knight, Scott Demarest, Bo Zhang, Timothy A Benke, Annapurna Poduri, Heather E Olson> ;Developmental Medicine and Child Neurology. 2024 Apr 1
• The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
  Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, Helen Leonard, Peter Jacoby, Eric D Marsh, Bernhard Suter, Elia Pestana-Knight, Heather E Olson, Dana Price, Judith...> ;Epilepsy Research. 2023 Nov 1
• 3 citations
  Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
  Heather E Olson, Scott Demarest, Elia Pestana-Knight, Ahsan N Moosa, Xiaoming Zhang, José R Pérez-Pérez, Judy Weisenberg, Erin O'Connor Prange, Eric D Marsh, Rajsekar ...> ;Epilepsia. 2023 Jul 1
• 2 citations
  Comparison of evoked potentials across four related developmental encephalopathies.
  Joni N Saby, Sarika U Peters, Timothy A Benke, Shannon M Standridge, Lindsay C Swanson, David N Lieberman, Heather E Olson, Alexandra P Key, Alan K Percy, Jeffrey L Ne...> ;Journal of Neurodevelopmental Disorders. 2023 Mar 4
• 2 citations
  Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
  Laura Keehan, Isabel Haviland, Yoel Gofin, Lindsay C Swanson, Christelle Moufawad El Achkar, John Schreiber, Grace E VanNoy, Emily O'Heir, Anne O'Donnell-Luria, Richar...> ;American Journal of Medical Genetics. Part A. 2022 Dec 1
• 6 citations
  Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
  Carolyn I Daniels, Caitlin A Greene, Jacqueline Drew, Jamie A Love-Nichols, Lindsay C Swanson, Lacey Smith, Duyu A Nie, Timothy Benke, Beth R Sheidley, Bo Zhang, Annap...> ;Pediatric Neurology. 2023 Jan 1
• 23 citations
  Assessing the landscape of STXBP1-related disorders in 534 individuals.
  Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Katherine Helbig, Jing Gan, Shiva Ganesan, Michael C Kaufman, Colin A Ellis, David Le...> ;Brain. 2022 Jun 3
• 29 citations
  CDKL5 deficiency disorder: clinical features, diagnosis, and management.
  Helen Leonard, Jenny Downs, Tim A Benke, Lindsay Swanson, Heather Olson, Scott Demarest> ;The Lancet. Neurology. 2022 Jun 1
• 8 citations
  CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.
  William Hong, Elia Pestana-Knight, Judith L Weisenberg, Scott Demarest, Eric D Marsh, Heather E Olson, Isabel Haviland> ;CNS Drugs. 2022 Jun 1
• 37 citations
  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.
  Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross, Scott T Demarest, Heather E Olson, Nicola Specchio, Thomas R Fleming, Alex A Aimetti, ...> ;The Lancet. Neurology. 2022 May 1
• Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability.
  Heather E Olson, Annapurna Poduri> ;Brain. 2022 Apr 18
• 1 citations
  Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.
  Joni N Saby, Patrick J Mulcahey, Alexis E Zavez, Sarika U Peters, Shannon M Standridge, Lindsay C Swanson, David N Lieberman, Heather E Olson, Alexandra P Key, Alan K ...> ;Brain Communications. 2022 Jan 1
• 12 citations
  International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
  Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F Chin, Angus J Clarke, J Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Elia M P...> ;Frontiers in Neurology. 2022 Jan 1
• 5 citations
  Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet syndrome and recurrent status epilepticus.
  Sara K. Trowbridge, Annapurna Poduri, Heather E. Olson> ;Epileptic Disorders. 2021 Oct 19
• 19 citations
  Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
  Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zha...> ;Journal of Neurodevelopmental Disorders. 2021 Sep 16
• 44 citations
  Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
  Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch,...> ;Brain. 2021 Aug 25
• 12 citations
  Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder.
  Jacinta Saldaris, Judith L.Z. Weisenberg, Elia Pestana-Knight, Eric D. Marsh, Bernhard Suter, Rajsekar Rajaraman, Gena Heidary, Heather E. Olson, Orrin Devinsky, Dana ...> ;Journal of Child Neurology. 2021 Aug 11
• 10 citations
  Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
  Heather E. Olson, Julia G Costantini, Lindsay C. Swanson, Walter E. Kaufmann, Tim A. Benke, Anne B. Fulton, Ronald M. Hansen, Annapurna Poduri, Gena Heidary> ;Developmental Medicine and Child Neurology. 2021 May 24
• 5 citations
  Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
  Pin-Fang Chen, Teresa Chen, Taylor E. Forman, Amanda C. Swanson, Benjamin O'Kelly, Sean Dwyer, Elizabeth D. Buttermore, Robin J. Kleiman, Sheridan Js Carrington, Danie...> ;Stem Cell Research. 2021 May 1
• 1 citations
  Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus.
  Muhamed Hadzipasic, Madeline B Karsten, Heather E. Olson, Lance H. Rodan, Hart G.W. Lidov, Sanjay P. Prabhu, Karen Wright, Katie Pricola Fehnel> ;American Journal of Medical Genetics. Part A. 2021 Feb 25
• 10 citations
  Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
  Christelle Moufawad El Achkar, Merle Harrer, Lacey Smith, McKenna Kelly, Sumaiya Iqbal, Snezana Maljevic, Cristina Elena Niturad, Lisenka E.L.M. Vissers, Annapurna Pod...> ;Annals of Neurology. 2021 Mar 1
• 52 citations
  Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
  Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael I. Ghanty, Katrine M. Johannesen, Christina Fenger, Stephanie Schorge, David Baez-Nieto, Haoran Wang, Andre...> ;Epilepsia. 2020 Feb 23
• 71 citations
  Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort
  Anne Rochtus, Heather E. Olson, Lacey Smith, Louisa G. Keith, Christelle Moufawad El Achkar, Alan Taylor, Sonal Mahida, Meredith Park, McKenna Kelly, Catherine Shain, ...> ;Epilepsia. 2020 Jan 19
• Join now to see all