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

[31] Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2 [J].

Giacometti, Emanuela ;

Luikenhuis, Sandra ;

Beard, Caroline ;

Jaenisch, Rudolf .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (06) :1931-1936

[32] Molecular characterization of Spanish patients with MECP2 duplication syndrome [J].

Pascual-Alonso, Ainhoa ;

Blasco, Laura ;

Vidal, Silvia ;

Gean, Esther ;

Rubio, Patricia ;

O'Callaghan, Mar ;

Martinez-Monseny, Antonio F. ;

Castells, Alba Aina ;

Xiol, Clara ;

Catala, Vicenc ;

Brandi, Nuria ;

Pacheco, Paola ;

Ros, Carlota ;

del Campo, Miguel ;

Guillen, Encarna ;

Ibanez, Salva ;

Sanchez, Maria J. ;

Lapunzina, Pablo ;

Nevado, Julian ;

Santos, Fernando ;

Lloveras, Elisabet ;

Ortigoza-Escobar, Juan D. ;

Tejada, Maria, I ;

Maortua, Hiart ;

Martinez, Francisco ;

Orellana, Carmen ;

Rosello, Monica ;

Mesas, Maria A. ;

Obon, Maria ;

Plaja, Alberto ;

Fernandez-Ramos, Joaquin A. ;

Tizzano, Eduardo ;

Marin, Rosario ;

Pena-Segura, Jose L. ;

Alcantara, Soledad ;

Armstrong, Judith .

CLINICAL GENETICS, 2020, 97 (04) :610-620

[33] MeCP2 phosphorylation in the brain: from transcription to behavior [J].

Damen, Daniela ;

Heumann, Rolf .

BIOLOGICAL CHEMISTRY, 2013, 394 (12) :1595-1605

[34] Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2 [J].

Gianakopoulos, Peter J. ;

Zhang, Yuzhi ;

Pencea, Nela ;

Orlic-Milacic, Marija ;

Mittal, Kirti ;

Windpassinger, Christian ;

White, Sara-Jane ;

Kroisel, Peter M. ;

Chow, Eva W. C. ;

Saunders, Carol J. ;

Minassian, Berge A. ;

Vincent, John B. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2012, 159B (02) :210-216

[35] Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2 [J].

Ortega-Alarcon, David ;

Claveria-Gimeno, Rafael ;

Vega, Sonia ;

Kalani, Ladan ;

Jorge-Torres, Olga C. ;

Esteller, Manel ;

Ausio, Juan ;

Abian, Olga ;

Velazquez-Campoy, Adrian .

NUCLEIC ACIDS RESEARCH, 2024, 52 (07) :3636-3653

[36] Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations [J].

Das, Dhanjit Kumar ;

Raha, Sarbani ;

Sanghavi, Daksha ;

Maitra, Anurupa ;

Udani, Vrajesh .

GENE, 2013, 515 (01) :78-83

[37] MeCP2 in the enteric nervous system [J].

Wahba, G. ;

Schock, S. C. ;

Claridge, E. ;

Bettolli, M. ;

Grynspan, D. ;

Humphreys, P. ;

Staines, W. A. .

NEUROGASTROENTEROLOGY AND MOTILITY, 2015, 27 (08) :1156-1161

[38] LEDGF interacts with the NID domain of MeCP2 and modulates MeCP2 condensates [J].

Lesire, Saskia ;

Lata, Rodrigo ;

Hoogvliets, Yannick ;

Herrebosch, Kune ;

van de Velde, Paulien ;

Speleers, Anouk ;

Christ, Frauke ;

Van Belle, Siska ;

Debyser, Zeger .

STRUCTURE, 2025, 33 (01) :78-90.e6

[39] MeCP2 mutations: progress towards understanding and treating Rett syndrome [J].

Ruth R. Shah ;

Adrian P. Bird .

Genome Medicine, 9

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

Suter, Bernhard ;

Treadwell-Deering, Diane ;

Zoghbi, Huda Y. ;

Glaze, Daniel G. ;

Neul, Jeffrey L. .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2014, 44 (03) :703-711

← 1 2 3 4 5 →