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Using a large international sample to investigate epilepsy in Rett syndrome
Bao, Xinhua1; Downs, Jenny2,3,4; Wong, Kingsley2; Williams, Simon5; Leonard, Helen2
刊名DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
2013-06-01
DOI10.1111/dmcn.12093
55期:6页:553-558
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
资助者Nature Science Foundation of Beijing, China ; NHMRC ; Nature Science Foundation of Beijing, China ; NHMRC
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]SEIZURES ; FEATURES ; MECP2
英文摘要

Aim The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. Method Information on 685 females with RTT recruited to the international Rett syndrome database (InterRett) with a pathogenic MECP2 mutation was obtained from family and clinician questionnaires. Individuals with RTT were aged 1year 4months to 54years 2months (mean 11y 1mo; SD 9y 4mo). Results Among them, 61% had epilepsy, with half diagnosed by the age of 5years. Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset. The highest rate of active epilepsy (54%) was in those aged 12 to 17years. Compared with those with a p.R133C mutation, active seizures were more likely to be reported in those with a large deletion (odds ratio 3.71; 95% confidence interval 1.1312.17) or p.T158M (odds ratio 2.92; 95% confidence interval 1.048.20). Commonly used medicines included valproate (47%), carbamazepine (39%), lamotrigine (30%), levetiracetam (24%), and topiramate (19%). Interpretation Genotype influences the age at onset and severity of epilepsy in RTT. Large sample sizes as available through InterRett assist in understanding the complexity of epilepsy in RTT in relation to genotype.

语种英语
所属项目编号7092102 ; 353514 ; 572568
资助者Nature Science Foundation of Beijing, China ; NHMRC ; Nature Science Foundation of Beijing, China ; NHMRC
WOS记录号WOS:000318235800016
引用统计
被引频次:32[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59262
专题北京大学第一临床医学院_儿科
作者单位1.Curtin Univ Technol, Sch Physiotherapy, Perth, WA, Australia
2.Peking Univ, Hosp 1, Dept Paediat, Beijing 100871, Peoples R China
3.Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6872, Australia
4.Curtin Univ Technol, Curtin Hlth Innovat Res Inst, Perth, WA, Australia
5.Princess Margaret Hosp Children, Dept Neurol, Perth, WA, Australia
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GB/T 7714
Bao, Xinhua,Downs, Jenny,Wong, Kingsley,et al. Using a large international sample to investigate epilepsy in Rett syndrome[J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY,2013,55(6):553-558.
APA Bao, Xinhua,Downs, Jenny,Wong, Kingsley,Williams, Simon,&Leonard, Helen.(2013).Using a large international sample to investigate epilepsy in Rett syndrome.DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY,55(6),553-558.
MLA Bao, Xinhua,et al."Using a large international sample to investigate epilepsy in Rett syndrome".DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 55.6(2013):553-558.
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