Syndromic disorders with epilepsy in patients with MECP2 mutations

被引：0

作者：

Grimmer, Anja ^{[1
]}

Kerling, Frank ^{[2
]}

机构：

[1] Ev Krankenhaus Konigin Elisabeth Herzberge, Epilepsie Zentrum Berlin Brandenburg, Herzbergstr 79, D-10365 Berlin, Germany

[2] Krankenhaus Rummelsberg GmbH, Schwarzenbruck, Germany

来源：

ZEITSCHRIFT FUR EPILEPTOLOGIE | 2022年 / 35卷 / 03期

关键词：

Intellectual disability; Rett syndrome; MECP2 duplication syndrome; Intellectual developmental disorder; Epilepsy therapy; RETT-SYNDROME; DUPLICATION SYNDROME; PATTERN; GIRLS;

D O I：

10.1007/s10309-022-00508-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The X-linked MECP2 gene is involved in two disorders that are associated with an intellectual developmental disorder and further neurological symptoms often, e.g. epilepsy. In Rett syndrome, there is a loss of function of the MECP2 gene and in duplication syndrome, there is an oversupply of the MeCP2 protein. Clinical criteria are available for the diagnosis of Rett syndrome, and the phenotypic presentation of MECP2 duplication syndrome is highly variable. Epilepsy can be difficult to treat in both syndromes, and no specific treatment recommendation exists. Various approaches in research (pharmacological and genetic) give hope for possible causative treatment in the future.

引用

页码：250 / 254

页数：5

共 50 条

[41] The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome [J].

Hammer, S ;

Dorrani, N ;

Dragich, J ;

Kudo, S ;

Schanen, C .

MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS, 2002, 8 (02) :94-98

[42] Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome [J].

Schanen, C ;

Houwink, EJF ;

Dorrani, N ;

Lane, J ;

Everett, R ;

Feng, A ;

Cantor, RM ;

Percy, A .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 126A (02) :129-140

[43] Parental origin of de novo MECP2 mutations in Rett syndrome [J].

Muriel Girard ;

Philippe Couvert ;

Alain Carrié ;

Marc Tardieu ;

Jamel Chelly ;

Cherif Beldjord ;

Thierry Bienvenu .

European Journal of Human Genetics, 2001, 9 :231-236

[44] Parental origin of de novo MECP2 mutations in Rett syndrome [J].

Girard, M ;

Couvert, P ;

Carrié, A ;

Tardieu, M ;

Chelly, J ;

Beldjord, C ;

Bienvenu, T .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (03) :231-236

[45] Brief Report: MECP2 Mutations in People Without Rett Syndrome [J].

Bernhard Suter ;

Diane Treadwell-Deering ;

Huda Y. Zoghbi ;

Daniel G. Glaze ;

Jeffrey L. Neul .

Journal of Autism and Developmental Disorders, 2014, 44 :703-711

[46] Role of MeCP2 in neurological disorders: current status and future perspectives [J].

Ausio, Juan .

EPIGENOMICS, 2018, 10 (01) :5-8

[47] The MECP2 Duplication Syndrome [J].

Ramocki, Melissa B. ;

Tavyev, Y. Jane ;

Peters, Sarika U. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (05) :1079-1088

[48] MeCP2: structure and function [J].

Adkins, Nicholas L. ;

Georgel, Philippe T. .

BIOCHEMISTRY AND CELL BIOLOGY, 2011, 89 (01) :1-11

[49] MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region [J].

Vacca, M ;

Filippini, F ;

Budillon, A ;

Rossi, V ;

Della Ragione, F ;

De Bonis, ML ;

Mercadante, G ;

Manzati, E ;

Gualandi, F ;

Bigoni, S ;

Trabanelli, C ;

Pini, G ;

Calzolari, E ;

Ferlini, A ;

Meloni, I ;

Hayek, G ;

Zappella, M ;

Renieri, A ;

D'Urso, M ;

D'Esposito, M ;

Macdonald, F ;

Kerr, A ;

Dhanjal, S ;

Hulten, M .

BRAIN & DEVELOPMENT, 2001, 23 :S246-S250

[50] Rett Syndrome and MeCP2 [J].

Liyanage, Vichithra R. B. ;

Rastegar, Mojgan .

NEUROMOLECULAR MEDICINE, 2014, 16 (02) :231-264

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