RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy

被引：7

作者：

Aeby, Alec ^{[1
]}

Prigogine, Cynthia ^{[1
]}

Vilain, Catheline ^{[2
]}

Malfilatre, Genevieve ^{[3
]}

Jaeken, Jaak ^{[4
]}

Lederer, Damien ^{[5
]}

Van Bogaert, Patrick ^{[1
]}

机构：

[1] ULB Hop Erasme, Pediat Neurol, 808 Route Lennik, B-1070 Brussels, Belgium

[2] ULB Hop Erasme, Clin Genet, Brussels, Belgium

[3] CHU Tivoli La Louviere, NICU, La Louviere, Belgium

[4] Univ Leuven, Dept Pediat, Ctr Metab Dis, Leuven, Belgium

[5] IPG, Ctr Human Genet, Charleroi, Gosselies, Belgium

来源：

EPILEPTIC DISORDERS | 2016年 / 18卷 / 01期

关键词：

RFT1; congenital disorder of glycosylation (CDG) syndrome; N-glycosylation; epilepsy; EEG; early onset epileptic encephalopathy (EOEE); EARLY MYOCLONIC ENCEPHALOPATHY; OHTAHARA-SYNDROME; CONGENITAL DISORDERS; RFT1-CDG; PROTEIN; BRAIN;

D O I：

10.1684/epd.2016.0802

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

RFT1-congenital disorder of glycosylation (CDG) syndrome, a recessive N-glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non-specific epilepsy. The aim of this report is to describe the electroclinical presentation of epilepsy associated with this condition.

引用

页码：92 / 96

页数：5

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