Heather Olson

Heather Olson, MD

Assistant in Neurology, Boston Children's Hospital; Assistant Professor of Neurology, Harvard Medical School.

Research Focus

Clinical research in epilepsy genetics and CDKL5 deficiency disorder.

Brief Research Description

Dr. Olson’s research focuses on phenotype-genotype correlations in early life epilepsy, and in particular for CDKL5 deficiency disorder. She runs a multidisciplinary clinic and clinical research program for this genetic disorder, in collaboration with the International Foundation for CDKL5 research (IFCR) and other Centers of Excellence. Work includes evaluation of phenotype-genotype associations, clinical biomarkers, and clinical trial readiness. She also leads industry sponsored clinical trials and continues to be an active member of Boston Children's Hospital Epilepsy Genetics Program.

Key Publications (PMCIDs)

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, Swanson LC, Riley KD, Bazin GA, Angione K, Niestroj LM, Lal D, Juarez-Colunga E, Benke TA.
Epilepsia 2019;60(8):1733-42.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
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.
Ann Neurol 2017;81(3):419-29. PMCID: PMC5366084.

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA.
Pediatr Neurol 2019;97:18-25.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marcais 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, DDD Study, Donadieu J, Narayanan V, Ramsey KM, C4RCD Research Group, Nava C, Riviere 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.
Am J Hum Genet 2018;102(5):995-1007. PMCID: PMC5986694.

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