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

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