CHD2 mutations in Lennox-Gastaut syndrome

被引：45

作者：

Lund, Caroline ^{[1
,2
]}

Brodtkorb, Eylert ^{[3
,4
]}

Oye, Ane-Marte ^{[5
]}

Rosby, Oddveig ^{[5
]}

Selmer, Kaja Kristine ^{[1
,5
]}

机构：

[1] Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Oslo, Norway

[2] Oslo Univ Hosp, SSE, Natl Ctr Epilepsy, Oslo, Norway

[3] St Olavs Hosp, Dept Neurol & Clin Neurophysiol, Trondheim, Norway

[4] Norwegian Univ Sci & Technol, Dept Neurosci, N-7034 Trondheim, Norway

[5] Univ Oslo, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway

来源：

EPILEPSY & BEHAVIOR | 2014年 / 33卷

关键词：

Lennox-Gastaut syndrome; CHD2; Epileptic encephalopathy; Sanger sequencing; DE-NOVO MUTATIONS; EPILEPTIC ENCEPHALOPATHIES; SYNDROME FEATURES; ADULT PATIENTS; MICRODELETION; CHILD;

D O I：

10.1016/j.yebeh.2014.02.005

中图分类号：

B84 [心理学]; C [社会科学总论]; Q98 [人类学];

学科分类号：

03 ; 0303 ; 030303 ; 04 ; 0402 ;

摘要：

Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy with a heterogeneous etiology. In this study, we aimed to explore the role of CHD2 in LGS, as CHD2 mutations have been described recently in various epileptic encephalopathies. We have previously identified one patient with a large deletion affecting the CHD2 gene in a group of 22 patients with LGS or LGS-like epilepsy. In the remaining 17 patients without known etiology, Sanger sequencing revealed a de nova 1-bp duplication in the CHD2 gene in another patient. This mutation leads to a frameshift and, consequently, a premature stop codon 49 bp downstream of the mutation. The patient had prominent myoclonic seizures and photosensitivity, thus, sharing phenotypic features with previously reported patients with CHD2-related epilepsy. In our original material of 22 patients with LGS features, we have now found two (9%) with mutations in the CHD2 gene. Our findings suggest that CHD2 mutations are important in the etiological spectrum of LGS. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：18 / 21

页数：4

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