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学科主题: 临床医学
题名:
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
作者: Saneto, Russell P.2; Lee, Inn-Chi1,3; Koenig, Mary Kay5; Bao, Xinhua6; Weng, Shao-Wen1,4; Naviaux, Robert K.7,8; Wong, Lee-Jun C.1
关键词: POLG ; Idiosyncratic hepatotoxicity ; Valproic acid ; Alpers-Huttenlocher syndrome ; Seizures
刊名: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
发表日期: 2010-04-01
DOI: 10.1016/j.seizure.2010.01.002
卷: 19, 期:3, 页:140-146
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: EPILEPSIA PARTIALIS CONTINUA ; MITOCHONDRIAL DISEASE ; POLYMERASE-GAMMA ; ALPERS-SYNDROME ; STATUS EPILEPTICUS ; MUTATIONS ; DEGENERATION ; CHILDHOOD ; DEPLETION ; CHILDREN
英文摘要:

Purpose: To review our clinical experience and determine if there are appropriate signs and symptoms to consider POLG sequencing prior to valproic acid (VPA) dosing in patients with seizures.

Methods: Four patients who developed VPA-induced hepatotoxicity were examined for POLG sequence variations. A subsequent chart review was used to describe clinical course prior to and after VPA dosing.

Results: Four patients of multiple different ethnicities, age 3-18 years, developed VPA-induced hepatotoxicity. All were given VPA due to intractable partial seizures. Three of the patients had developed epilepsia partialis continua. The time from VPA exposure to liver failure was between 2 and 3 months. Liver failure was reversible in one patient. Molecular studies revealed homozygous p.R597W or p.A467T mutations in two patients. The other two patients showed compound heterozygous mutations, p.A467T/p.Q68X and p.L83P/p.G8885. Clinical findings and POLG mutations were diagnostic of Alpers-Huttenlocher syndrome.

Conclusion: Our cases underscore several important findings: POLG mutations have been observed in every ethnic group studied to date; early predominance of epileptiform discharges over the occipital region is common in POLG-inducecl epilepsy; the EEG and MRI findings varying between patients and stages of the disease; and VPA dosing at any stage of Alpers-Huttenlocher syndrome can precipitate liver failure. Our data support an emerging proposal that POLG gene testing should be considered in any child or adolescent who presents or develops intractable seizures with or without status epilepticus or epilepsia partialis continua, particularly when there is a history of psychomotor regression. (C) 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

语种: 英语
项目资助者: Mitochondrial Research Guild of Seattle Children&prime ; s Hospital
WOS记录号: WOS:000276621500002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55914
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Baylor Coll Med, Houston, TX 77030 USA
2.Univ Washington, Seattle Childrens Hosp, Div Pediat Neurol, Seattle, WA 98105 USA
3.Chung Shan Med Univ, Dept Pediat, Sch Med, Taichung, Taiwan
4.Chang Gung Univ, Coll Med, Kaohsiung Med Ctr, Chang Gung Mem Hosp,Dept Internal Med, Kaohsiung, Taiwan
5.Univ Texas Med Sch, Div Child & Adolescent Neurol, Houston, TX 77030 USA
6.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
7.Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA
8.Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA

Recommended Citation:
Saneto, Russell P.,Lee, Inn-Chi,Koenig, Mary Kay,et al. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders[J]. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY,2010,19(3):140-146.
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