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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
Fehr, Stephanie1; Wilson, Meredith2,3,4; Downs, Jenny1,5,6; Williams, Simon7; Murgia, Alessandra8; Sartori, Stefano8; Vecchi, Marilena8; Ho, Gladys2,3,4; Polli, Roberta8; Psoni, Stavroula9; Bao, Xinhua10; de Klerk, Nick1; Leonard, Helen1; Christodoulou, John2,3,4
关键词Cdkl5 Rett Syndrome Dysmorphology Natural History Phenotype
刊名EUROPEAN JOURNAL OF HUMAN GENETICS
2013-03-01
DOI10.1038/ejhg.2012.156
21期:3页:266-273
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity
研究领域[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity
关键词[WOS]KINASE-LIKE 5 ; SEVERE MENTAL-RETARDATION ; RETT-SYNDROME ; EPILEPTIC ENCEPHALOPATHY ; INFANTILE SPASMS ; INTRACTABLE EPILEPSY ; INTERSTITIAL DELETION ; DIAGNOSTIC-CRITERIA ; MUTATIONS ; GENE
英文摘要

The clinical understanding of the CDKL5 disorder remains limited, With most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (Rh). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical Rh T was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant Rh. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant. European Journal of Human Genetics (2013) 21, 266-273; doi:10.1038/ejhg.2012.156; published online 8 August 2012

语种英语
WOS记录号WOS:000315754800006
项目编号572568 ; 570752 ; 2010-0724
资助机构International Rett Syndrome Foundation (IRSF previously IRSA) ; NHMRC ; University of Western Australia ; Fondazione Cariplo
引用统计
被引频次:64[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/400002259/52425
专题北京大学第一临床医学院_儿科
作者单位1.Univ Athens, Athens, Greece
2.Univ Sydney, Discipline Genet Med, Sydney, NSW 2006, Australia
3.Curtin Univ Technol, Sch Physiotherapy, Perth, WA, Australia
4.Univ Padua, Dept Pediat, Padua, Italy
5.Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA 6009, Australia
6.Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia
7.Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
8.Curtin Univ Technol, Curtin Hlth Innovat Res Inst, Perth, WA, Australia
9.Princess Margaret Hosp, Dept Neurol & Rehabil, Perth, WA, Australia
10.Peking Univ, Dept Pediat, Hosp 1, Beijing 100871, Peoples R China
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GB/T 7714
Fehr, Stephanie,Wilson, Meredith,Downs, Jenny,et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy[J]. EUROPEAN JOURNAL OF HUMAN GENETICS,2013,21(3):266-273.
APA Fehr, Stephanie.,Wilson, Meredith.,Downs, Jenny.,Williams, Simon.,Murgia, Alessandra.,...&Christodoulou, John.(2013).The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.EUROPEAN JOURNAL OF HUMAN GENETICS,21(3),266-273.
MLA Fehr, Stephanie,et al."The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy".EUROPEAN JOURNAL OF HUMAN GENETICS 21.3(2013):266-273.
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