Heather Olson, MD

Director, Epilepsy Genetics Program; Neurologist, Department of Neurology

Associate Professor, Department of Neurology, Harvard Medical School

Phone 617-355-7970

Fax 617-730-4850

NPI 1013174804

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Heather Olson, MD

Director, Epilepsy Genetics Program; Neurologist, Department of Neurology

Associate Professor, Department of Neurology, Harvard Medical School

Medical Services

Languages

English

Education

Medical School

Mayo Medical School

2006

Rochester

Undergraduate School

Colby College

2001

Waterville

Residency

Pediatrics

Boston Combined Residency Program (BCRP)

2008

Boston

Residency

Pediatric Neurology

Boston Children's Hospital

2011

Boston

Fellowship

Epilepsy; Clinical Neurophysiology

Boston Children's Hospital

2012

Boston

Fellowship

Neurogenetics; Epilepsy Genetics

Boston Children's Hospital

2013

Boston

Graduate School

MS, Epidemiology

Harvard T.H. Chan School of Public Health

2016

Boston

Certifications

American Board of Psychiatry and Neurology (Child and Adolescent Neurology)

American Board of Psychiatry and Neurology (Epilepsy)

Professional History

I am a child neurologist with expertise in Epilepsy, Clinical Neurophysiology, Neurogenetics, and Fetal/Neonatal Neurology. I am medical director of Epilepsy Genetics, and I am director and co-founder of the CDKL5 Clinic at Boston Children’s Hospital. I additionally see general neurology patients with our amazing nurse practitioners at the Peabody Satellite.

I have extensive experience in clinical care and research for populations of patients with infantile-onset developmental and epileptic encephalopathies, and I lead a clinical research team at Boston Children’s Hospital. I completed a career development award from National Institute of Neurological Disorders and Stroke titled “Diagnosis and genotype-phenotype correlations in early life epilepsy and CDKL5 Deficiency Disorder.” My locally, nationally and internationally collaborative research aims to advance clinical and translational research in CDKL5 Deficiency Disorder and other infantile-onset epilepsy syndromes.

I have experience in observational clinical studies, clinical trials, and translational research. My recent work has helped to characterize genotype-phenotype correlations in infantile-onset epilepsies, and to establish Natural History and outcome measures for this population. I have served as principal investigator for industry-sponsored clinical trials and I wrote my own investigator initiated trial with support from the National Institute of Neurological Disorders and Stroke Clinical Trials Methodology Course.

Approach to Care

I am grateful for the values instilled in me through my medical education at the Mayo Clinic. These include their primary value “The needs of the patient come first” and logo of three interlocking shields representing a model of care based on integrated excellence in clinical practice, education and research.

Being a physician is a blessing and a privilege, and child neurology is a special field. The resilience of children and families gives me strength. I strive to do my best every day for the needs of my patients today and the hope of contributing to better treatments for the future. I am thankful to my patients, their families and my own, and excellent colleagues for all that they do to help me achieve my goals and your goals.

Publications

Cell Population-resolved Multiomics Atlas of the Developing Lung. View Abstract

The natural history of CDKL5 deficiency disorder into adulthood. View Abstract

Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study. View Abstract

Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons. View Abstract

Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report. View Abstract

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. View Abstract

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder. View Abstract

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database. View Abstract

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial. View Abstract

CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description. View Abstract

Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience. View Abstract

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study. View Abstract

Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up. View Abstract

CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. View Abstract

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder. View Abstract

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. View Abstract

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. View Abstract

Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy. View Abstract

Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies. View Abstract

Comparison of evoked potentials across four related developmental encephalopathies. View Abstract

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies. View Abstract

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. View Abstract

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. View Abstract

Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder. View Abstract

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder. View Abstract

Assessing the landscape of STXBP1-related disorders in 534 individuals. View Abstract

CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment. View Abstract

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. View Abstract

CDKL5 deficiency disorder: clinical features, diagnosis, and management. View Abstract

Towards understanding genetic risk in febrile seizures: innate immunity and neuronal excitability. View Abstract

PIGN encephalopathy: Characterizing the epileptology. View Abstract

Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet syndrome and recurrent status epilepticus. View Abstract

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. View Abstract

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. View Abstract

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure. View Abstract

Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD). View Abstract

Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. View Abstract

Characterization of the GABRB2-Associated Neurodevelopmental Disorders. View Abstract

Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. View Abstract

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. View Abstract

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. View Abstract

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. View Abstract

Severity Assessment in CDKL5 Deficiency Disorder. View Abstract

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. View Abstract

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. View Abstract

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder. View Abstract

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. View Abstract

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. View Abstract

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. View Abstract

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. View Abstract

Neonatal epilepsy genetics. View Abstract

Should patients with complex febrile seizure be admitted for further management? View Abstract

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. View Abstract

Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part II: synthesis of the literature and patient management. View Abstract

Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part I: review of experience at Boston Children's Hospital. View Abstract

A randomized controlled trial of levodopa in patients with Angelman syndrome. View Abstract

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. View Abstract

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. View Abstract

A Model Program for Translational Medicine in Epilepsy Genetics. View Abstract

BRAT1 mutations present with a spectrum of clinical severity. View Abstract

Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. View Abstract

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. View Abstract

The genetics of the epilepsies. View Abstract

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. View Abstract

Evaluation and treatment of autoimmune neurologic disorders in the pediatric intensive care unit. View Abstract

Genetic forms of epilepsies and other paroxysmal disorders. View Abstract

Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. View Abstract

E-066 pathogenesis of dural sinus malformations as demonstrated by fetal imaging: a decision-making crucible for parents and clinicians. View Abstract

Copy number variation plays an important role in clinical epilepsy. View Abstract

Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. View Abstract

Micro-duplications of 1q32.1 associated with neurodevelopmental delay. View Abstract

Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? View Abstract

Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. View Abstract

Rufinamide for the treatment of epileptic spasms. View Abstract

Neural stem cell- and Schwann cell-loaded biodegradable polymer scaffolds support axonal regeneration in the transected spinal cord. View Abstract

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