MEDICAL SERVICES
EDUCATION
Undergraduate Degree
- 科尔比学院,2001年,沃特维尔,我
医学院
- 梅奥医学院,2006年,明尼苏达州罗切斯特
Residency
儿科
- 波士顿合并居住计划(BCRP),2008年,马萨诸塞州波士顿
Residency
Pediatric Neurology
- 波士顿儿童医院,2011年,马萨诸塞州波士顿
奖学金
Epilepsy; Clinical Neurophysiology
- 波士顿儿童’s Hospital , 2012 , Boston , MA
奖学金
神经遗传学;癫痫遗传学
- 欧宝彩票平台波士顿儿童医院,2013年,马萨诸塞州波士顿
Philosophy of Care
我感谢通过Mayo诊所的医学教育灌输给我的价值观。其中包括其主要价值“患者的需求先出现”和三个互锁盾牌的徽标,这些徽标代表了基于临床实践,教育和研究综合卓越的护理模型。
成为医生是一种祝福和特权,儿童神经病学是一个特殊领域。儿童和家庭的韧性赋予了我力量。我努力每天尽力满足病人的需求,并希望为未来做好更好的治疗做出贡献。我感谢我的病人,他们的家人和我自己的人和出色的同事,以帮助我实现目标和目标。
PROFESSIONAL HISTORY
在梅奥医学院的医学院培训后,我在波士顿进行了所有研究生培训,然后在波士顿儿童医院接受教职。欧宝彩票平台我的临床重点是癫痫和神经遗传学/癫痫遗传学。我通过神经病学中的许多程序看到患者,包括胎儿神经病学计划,重点是神经遗传疾病和癫痫。此外,我在我们的联合炎症性癫痫计划中看到了患者与Benson博士和Gorman博士。我是临床医生和临床研究人员。我的研究是在癫痫遗传学领域,尤其是早期发作性癫痫性脑病和婴儿痉挛的遗传学。此外,我正在通过哈佛T.H.致力于流行病学理学硕士学位。陈公共卫生学院,重点是遗传流行病学。
Dr. Olson serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visitbostonchildrens.org/precisionmed.
认证
- 美国精神病学委员会,儿童和青少年神经病学
- American Board of Psychiatry and Neurology, Epilepsy
PUBLICATIONS
- 通过研究性新药物机制在患有DRAVET综合征和复发状态癫痫持续状态的男孩中,通过芬氟拉明的早期诊断和实验治疗。癫痫疾病。2021年10月19日。View abstract
- Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord. 2021 09 16; 13(1):40.View abstract
- SCN8A-related d Genotype-phenotype相关性isorders reveal prognostic and therapeutic implications. Brain. 2021 Aug 25.View abstract
- Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. J Child Neurol. 2021 Oct; 36(11):998-1006.View abstract
- CDKL5缺乏障碍中的脑视觉障碍:视力作为结果度量。开发儿童神经。2021年11月;63(11):1308-1315。View abstract
- 来自三名男性和三名CDKL5缺乏障碍(CDD)的人类诱导多能干细胞(IPSC)的生成和表征。干细胞res。2021 05;53:102276。View abstract
- 髓母细胞瘤在多脑膜脑脑多肠脑脑化的环境中。Am J Med Genet A. 2021 05;185(5):1614-1618。View abstract
- Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586.View abstract
- Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice. Brain. 2020 07 01; 143(7):2039-2057.View abstract
- Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 03; 61(3):387-399.View abstract
- 癫痫中的遗传诊断:动态外显子分析在小儿队列中的影响。癫痫病。2020 02;61(2):249-258。View abstract
- 缺CDKL5 disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 08; 60(8):1733-1742.View abstract
- Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol. 2019 08; 97:38-42.View abstract
- PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain. 2019 03 01; 142(3):542-559.View abstract
- 细胞周期蛋白依赖性激酶样5缺乏障碍:临床评论。pediatr neurol。2019 08;97:18-25。View abstract
- 儿童难治性癫痫的大麻:针对CDKL5缺乏障碍的评论。癫痫病。2019 03;151:31-39。View abstract
- Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418.View abstract
- 复发性的DE NOVO PACS2杂合错义变体会导致新生儿发育发育性癫痫性脑病,面部畸形和小脑失去障碍。Am J Hum Genet。2018 10 04;103(4):631。View abstract
- Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. Brain Sci. 2018 Aug 07; 8(8).View abstract
- 复发性的DE NOVO PACS2杂合错义变体会导致新生儿发育发育性癫痫性脑病,面部畸形和小脑失去障碍。Am J Hum Genet。2018 05 03; 102(5):995-1007.View abstract
- 新生儿癫痫遗传学。光胎胎儿新生儿医学。2018 06;23(3):197-203。View abstract
- Should patients with complex febrile seizure be admitted for further management? Am J Emerg Med. 2018 08; 36(8):1386-1390.View abstract
- 天冬型合成酶缺乏症的兄弟姐妹中新型变体的表征。mol Genet Metab。2018 03;123(3):317-325。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. J Neurointerv Surg. 2018 May; 10(5):467-470.View abstract
- 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.View abstract
- 左旋多巴的随机对照试验在Angelman综合征患者中。Am J Med Genet A. 2018 05;176(5):1099-1107。View abstract
- 使用生酮饮食来管理CDKL5疾病中的难治性癫痫:&GT100患者的经验。癫痫病。2017 08;58(8):1415-1422。View abstract
- 早期发作性癫痫性脑病中的遗传学和基因型 - 表型相关性,并抑制爆发。Ann Neurol。2017年3月;81(3):419-429。View abstract
- A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436.View abstract
- BRAT1 mutations present with a spectrum of clinical severity. . 2016 09; 170(9):2265-73.View abstract
- Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015 Oct; 2(5):e150.View abstract
- SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66.View abstract
- The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39.View abstract
- Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. . 2015 Sep; 167A(9):2017-25.View abstract
- Evaluation and treatment of autoimmune neurologic disorders in the pediatric intensive care unit. Semin Pediatr Neurol. 2014 Dec; 21(4):284-90.View abstract
- Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79.View abstract
- Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia. 2014 Aug; 55(8):1235-44.View abstract
- 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.View abstract
- Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.View abstract
- BIEN诊断标准Rasmussen脑炎的临床应用和评估。癫痫病。2013年10月;54(10):1753-60。View abstract
- 与神经发育延迟相关的1q32.1的微构想。Eur J Med Genet。2012年2月;55(2):145-50。View abstract
- Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30.View abstract
- Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia. 2011 Nov; 52(11):1956-65.View abstract
- Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011 Feb; 20(2):344-8.View abstract
- 神经干细胞和雪旺氏细胞负载的可生物降解的聚合物支架支持跨脊髓中的轴突再生。Tissue Eng Part A. 2009 Jul;15(7):1797-805。View abstract