MECP2 Duplication Syndrome

被引：112
|
作者：
Van Esch, H. [1 ]
机构：
[1] Univ Hosp Leuven, Ctr Human Genet, Herestraat 49, BE-3000 Leuven, Belgium
来源：
MOLECULAR SYNDROMOLOGY | 2011年 / 2卷 / 3-5期
关键词：
Array comparative genomic hybridization; Duplication; Epilepsy; Hypotonia; Intellectual disability; MECP2; Recurrent infections; Spasticity; X chromosome; Xq28;
D O I：
10.1159/000329580
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome. Copyright (C) 2011 S. Karger AG, Basel
引用
收藏
页码：128 / 136
页数：9
相关论文
共 50 条
  • [41] Electroclinical Features in MECP2 Duplication Syndrome: Pediatric Case Series
    Lorenzo, Jocelyn
    Dolce, Alison
    Lowden, Andrea
    JOURNAL OF CHILD NEUROLOGY, 2021, 36 (12) : 1086 - 1094
  • [42] Multi-omics in MECP2 duplication syndrome patients and carriers
    Pascual-Alonso, Ainhoa
    Xiol, Clara
    Smirnov, Dmitrii
    Kopajtich, Rober
    Prokisch, Holger
    Armstrong, Judith
    EUROPEAN JOURNAL OF NEUROSCIENCE, 2024, 60 (02) : 4004 - 4018
  • [43] Increased susceptibility to influenza A in a mouse model of MeCP2 duplication syndrome
    Cronk, James
    Kim, Taeg
    Moser, Emily
    Sharma, Ashish
    Braciale, Thomas
    Kipnis, Jonathan
    JOURNAL OF IMMUNOLOGY, 2015, 194
  • [44] Design and Rationale of the ATTUNE Study in Patients with MECP2 Duplication Syndrome
    Coquery, C. M.
    Watanabe, T.
    Norris, D.
    Pehlivan, D.
    Neul, J.
    Marsh, E.
    Chen, C.
    Lewis, S.
    Yarborough, M.
    Mathews, J.
    Yarlas, A.
    Stanton, S.
    ANNALS OF NEUROLOGY, 2025, 96 : S97 - S98
  • [45] Electroclinical Features in MECP2 Duplication Syndrome: Pediatric case series
    Lorenzo, Jocelyn
    Lowden, Andrea
    NEUROLOGY, 2021, 96 (15)
  • [46] Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome
    Peters, Sarika U.
    Byiers, Breanne J.
    Symons, Frank J.
    JOURNAL OF CHILD NEUROLOGY, 2016, 31 (02) : 159 - 163
  • [47] Deep brain stimulation for the management of seizures in MECP2 duplication syndrome
    Nascimento, Fabio A.
    Faghfoury, Hanna
    Krings, Timo
    Ali, Anfal
    Fridhandler, Jonathan D.
    Lozano, Andres
    Wennberg, Richard
    Andrade, Danielle M.
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2014, 23 (05): : 405 - 407
  • [48] DEEP BRAIN STIMULATION FOR THE MANAGEMENT OF SEIZURES IN MECP2 DUPLICATION SYNDROME
    Nascimento, F. A.
    Faghfoury, H.
    Krings, T.
    Ali, A.
    Fridhandler, J. D.
    Lozano, A.
    Wennberg, R.
    Andrade, D. M.
    EPILEPSIA, 2013, 54 : 296 - 296
  • [49] MONKEY MODEL OF MECP2 DUPLICATION SYNDROME AIDS AUTISM RESEARCH
    不详
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (05) : 1112 - 1113
  • [50] Anesthetic Management for a Patient With MECP2 Duplication Syndrome: A Case Report
    Choi, Yuen-Ling Janice
    Wong, Tsz-Kin Marcus
    Ng, Kwok Keung Daniel
    A & A PRACTICE, 2020, 14 (06): : e01202
12345