Heather E Olson

Heather E Olson

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Heather E Olson

Heather E Olson

Publications by authors named "Heather E Olson"

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

Epilepsia 2020 Feb 19;61(2):249-258. Epub 2020 Jan 19.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1111/epi.16427DOI Listing
February 2020

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

Pediatr Neurol 2019 08 23;97:18-25. Epub 2019 Feb 23.

Children's Hospital Colorado, University of Colorado, School of Medicine, Aurora, Colorado; Department of Pediatrics, University of Colorado, School of Medicine, Aurora, Colorado; Department of Pharmacology, University of Colorado, School of Medicine, Aurora, Colorado; Department of Neurology, University of Colorado, School of Medicine, Aurora, Colorado; Department of Otolaryngology, University of Colorado, School of Medicine, Aurora, Colorado.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.015DOI Listing
August 2019

Severity Assessment in CDKL5 Deficiency Disorder.

Pediatr Neurol 2019 08 27;97:38-42. Epub 2019 Mar 27.

Children's Hospital Colorado and University of Colorado School of Medicine Aurora, Colorado; Department of Pediatrics, Aurora, Colorado; Department of Pharmacology, Aurora, Colorado; Department of Neurology, Aurora, Colorado; Department of Otolaryngology, Aurora, Colorado. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659999PMC
August 2019

Neonatal epilepsy genetics.

Semin Fetal Neonatal Med 2018 06 31;23(3):197-203. Epub 2018 Jan 31.

Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy, Boston Children's Hospital, Boston, MA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S1744165X183001
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http://dx.doi.org/10.1016/j.siny.2018.01.003DOI Listing
June 2018

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 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

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

Mol Genet Metab 2018 03 20;123(3):317-325. Epub 2017 Dec 20.

Department of Biochemistry & Molecular Biology, Genetics Institute, University of Florida College of Medicine, 1200 Newell Drive, FL 32608, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832599PMC
March 2018

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

Epilepsia 2017 08 12;58(8):1415-1422. Epub 2017 Jun 12.

Telethon Kids Institute, University of Western Australia, West Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/epi.13813DOI Listing
August 2017

A Model Program for Translational Medicine in Epilepsy Genetics.

J Child Neurol 2017 03 6;32(4):429-436. Epub 2017 Jan 6.

1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816685654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625332PMC
March 2017

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

Am J Med Genet A 2015 Sep 25;167A(9):2017-25. Epub 2015 Apr 25.

Epilepsy Genetics Program, Division of Epilepsy & Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.37132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722031PMC
September 2015

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

Neurology 2015 Sep 19;85(11):958-66. Epub 2015 Aug 19.

From the Departments of Neurology (K.B.H., M.T.M., V.R.-C., J.L.F., A.S.H., I.E.S.) and Radiology (S.M.), The Royal Children's Hospital, Melbourne; Department of Paediatrics (K.B.H., M.T.M., S.M., A.S.H., I.E.S.), The University of Melbourne; Murdoch Childrens Research Institute (K.B.H., M.T.M., J.L.F., A.S.H.), Melbourne; Epilepsy Research Centre (J.M.M., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Paediatrics, University of Washington, Seattle; Epilepsy Genetics Program (D.T., H.E.O., A.P.), Department of Neurology, Harvard Medical School, Boston Children's Hospital, MA; TY Nelson Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Sydney; Department of Neurology (D.C.), Women's and Children's Hospital, Adelaide; Neurosciences Children's Health Queensland (S.C.), Lady Cilento Children's Hospital, Brisbane; and Florey Institute of Neuroscience and Mental Health (S.M., A.S.H., I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567464PMC
September 2015

The genetics of the epilepsies.

Curr Neurol Neurosci Rep 2015 Jul;15(7):39

Division of Epilepsy, Department of Neurology, Boston Children's Hospital, and Harvard Medical School, Fegan 9, 300 Longwood Ave, Boston, MA, 02115, USA,

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http://link.springer.com/10.1007/s11910-015-0559-8
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http://dx.doi.org/10.1007/s11910-015-0559-8DOI Listing
July 2015

Genetic forms of epilepsies and other paroxysmal disorders.

Semin Neurol 2014 Jul 5;34(3):266-79. Epub 2014 Sep 5.

Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0034-1386765
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http://dx.doi.org/10.1055/s-0034-1386765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834292PMC
July 2014

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

Epilepsia 2013 Oct 23;54(10):1753-60. Epub 2013 Aug 23.

Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, U.S.A; Harvard Medical School, Boston, Massachusetts, U.S.A.

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http://dx.doi.org/10.1111/epi.12334DOI Listing
October 2013