Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy

被引：10
|
作者：
Uittenbogaard, Martine [1 ]
Gropman, Andrea [2 ]
Brantner, Christine A. [3 ]
Chiaramello, Anne [1 ]
机构：
[1] George Washington Univ, Sch Med & Hlth Sci, Dept Anat & Regenerat Biol, Washington, DC 20052 USA
[2] Childrens Natl Med Ctr, Div Neurogenet & Dev Pediat, Washington, DC 20010 USA
[3] George Washington Univ, Off Vice President Res, GW Nanofabricat & Imaging Ctr, Washington, DC USA
来源：
CLINICAL CASE REPORTS | 2018年 / 6卷 / 12期
关键词：
compound heterozygous mutations; energy metabolism; epileptic encephalopathy; seizure threshold 2 gene; whole-exome sequencing;
D O I：
10.1002/ccr3.1868
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous Szt2 variants. We provide the first evidence that these Szt2 variants impair mitochondrial energy metabolism. Our results shed light on their pathogenic molecular mechanism and clinical implications for brain development and disease progression.
引用
收藏
页码：2376 / 2384
页数：9
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